Stage I: Rule-Out Dashboard
|
|
- Oscar Bates
- 5 years ago
- Views:
Transcription
1 Stage I: Rule-Out Dashboard GENE/GENE PANEL: GLA DISORDER: Fabry disease HGNC ID: 4296 OMIM ID: ACTIONABILITY PENETRANCE 1. Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition? 2. Does the practice guideline or systematic review indicate that the result is actionable in one or more of the following ways? Yes No Patient Management Surveillance or Screening 4. Is there at least one known pathogenic variant with at least moderate penetrance ( 40%) or moderate relative risk ( 2) in any population? SIGNIFICANCE/BURDEN OF DISEASE 5. Is this condition an important health problem? Family Management Circumstances to Avoid ( 1 of above) NEXT STEPS 6. Are Actionability (Q2-3), Penetrance (Q4), and Significance (Q5) all? 3. Is the result actionable in an undiagnosed adult with the genetic condition? (Proceed to Stage II) (Consult Actionability Working Group) Exception granted, proceed to Stage II Exception not granted, STOP 1
2 GENE/GENE PANEL: GLA DISORDER: Fabry disease Topic Narrative Description of Evidence Ref Signif/Burden of Condition 1. What is the nature of the threat to health for an individual carrying a deleterious allele? Prevalence of the genetic disorder Clinical Features (Signs/symptoms) Natural History (Important subgroups & survival/recovery) The incidence of Fabry disease is estimated at 1:50,000 males; for both sexes, the population incidence estimates have ranged from 1:80,000 to 1:117,000. Studies suggest that milder forms of the disease that present later in life and primarily affect the cardiovascular, cerebrovascular, or renal system may be more common and may be underdiagnosed. Fabry disease results from deficient activity of the enzyme α-galactosidase (α-gal A) and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body. The classic form occurs in males with less than 1% α-gal A enzyme activity and usually has onset in childhood or adolescent years (generally ages 4-8 years). The onset of symptoms in the classic form occurs in childhood or adolescence with periodic crises of severe pain in the extremities, appearance of vascular cutaneous lesions, hypohidrosis (diminished sweating response), and corneal and lenticular opacities. Cardiac and/or cerebrovascular disease (e.g., LV-hypertrophy, heart failure, stenosis, atherosclerotic plaques, coronary vasospasm, thrombotic and thromboembolic complications) is present in most males by middle age; mitral insufficiency may be present in childhood and adolescence. Progressive decline in renal function leads to end stage renal disease (ESRD) usually during the third to fifth decade. Patients also have gastrointestinal, auditory, pulmonary, vascular, cranial nerve, and psychological manifestations. Heterozygous females typically have milder symptoms and a later age of onset than males. Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype. Males with a greater than 1% α-gal A activity present later and may have either a cardiac variant phenotype or renal variant phenotype. For those with the cardiac variant, age of presentation is generally in the sixth to eight decade of life with left ventricular hypertrophy (LVH), mitral insufficiency and/or cardiomyopathy with proteinuria but without ESRD. Clinical manifestations of the cardiac variant may be found in women as well as men. The renal variant phenotype is typically associated with ESRD without the skin or pain symptoms associated with classic Fabry disease. Based on registry data, the life expectancy for patients was 58.2 years in males and 75.4 years for females. The most common cause of death among both sexes was cardiovascular disease with most patients dying of cardiovascular disease having previously received renal replacement therapy. Before the availability of dialysis and transplantation, death from kidney failure occurred early in the first decade in classically affected males. Those patients with late-onset atypical variants of the disease are generally asymptomatic most of their lives. Those with the cardiac variant generally present in the sixth to eighth decade of life; many are diagnosed as the result of having hypertrophic cardiomyopathy. For those with the renal variant, age at onset is typically after 25 years. 2. How effective are interventions for preventing the harm? Information on the effectiveness of the recommendations below was not provided unless otherwise stated. Patients should undergo baseline evaluation by a multidisciplinary team. Evaluation should include a complete physical and psychological exam including quality of life, measurement of α- galactosidase A levels, and examination of the following systems: renal, cardiac, neurologic, Patient ear/nose/throat, ophthalmologic, pulmonary, gastrointestinal, and skeletal. (Tier 2) Management Baseline data and all follow up data should be transferred to a central registry. (Tier 2) (1;2) (1-3) (1;3) (3-7) (4;6) In global practice, there is wide variability in the usage of ERT even for hemizygotes, with some (3-8) 2
3 starting therapy at a young age even without symptoms and others waiting until end organ damage is evident. (Tier 2) The decision to initiate ERT should be made according to the clinical judgment of the managing metabolic physician in conjunction with the family of the patient. (Tier 2) Treatment with enzyme replacement therapy (using agalsidase alfa or beta) may reduce the rate of end-organ complications (stroke, cardiac and renal events, death) compared to untreated patients. Evidence for this effect is mixed and weak, and includes patients with advanced-stage disease as well as studies of small size. One RCT (n=82; mean age 46, 12% female) of patients with Fabry with mild-moderate kidney disease showed that treatment with agalsidase beta delayed time to first clinical event (HR: 0.47 (95% CI, 0.21 to 1.03) p = 0.06) with the most significant effect found in patients with baseline GFR rates greater than 55mL/min/1.73 m 2 (HR: 0.19 (95% CI: 0.05 to 0.82) p= 0.025). One prospective study (57 treated patients with agalsidase alfa or beta; mean age 58; 50% female) composed mainly of patients with classic Fabry with chronic kidney disease, LVH, or white matter lesions found no difference in time to first (p=0.69) or second complication (p=0.72) between treated patients and registry control data; however, the odds for developing a complication declined with longer treatment duration for both first (0.81 [ ] per year of ERT) and second complications (0.52 [ ] per year of ERT) regardless of sex. One cohort study of 289 patients with Fabry disease (mean age 44; 58% female) found no difference between treatment status and the probability of having a stroke/tia (HR = 2.08 (95% CI 0.42 to 10.20) p = 0.36 ). A prospective cohort of 40 patients with genetically proven Fabry diseae (mean age 40; 22% female) found no difference in the rate of a end-organ complications between the ERT treated patients and a historical cohort (sex adjusted HR 1.48 (95% CI ) p= (Tier 1) (8) (2;9) Surveillance Family Management Circumstances to Avoid Due to an increased risk of vascular events, management of other vascular risk factors (hypertension, dyslipidemia, diabetes mellitus, increased weight) should be aggressive. (Tier 2) Risk of stroke is elevated in patients with Fabry disease. One cohort study found that among 33 Fabry patients, 24% suffered at least one stroke by the age of 29. In order to reduce stroke risk, aspirin may be offered starting at age 30 for males and age 35 for females. Adequate intake of vitamins B12, B6, C, and folate should be promoted. (Tier 2) Patients should undergo regular surveillance including complete physical and psychological exams and surveillance of the following systems: kidney, cardiac, neurologic, ear/nose/throat, ophthalmologic, pulmonary, gastrointestinal, and skeletal. Type and frequency of surveillance vary across systems and with individual patient symptoms. (Tier 2) A detailed family history should be taken in order to determine at-risk family members and testing offered, because most mutations are familial. Affected family members identified as a result of screening should undergo the same baseline diagnostic and surveillance recommendations detailed above. (Tier 2) Due to the high risk of vascular events patients should be discouraged from smoking. (Tier 2) Given the potential effects on cellular levels of α-galactosidase A, amiodarone (an antiarhythmia drug) has been contraindicated in persons with Fabry disease. However, there is little evidence of a detrimental effect and the relative benefit in patients with cardiac arrhythmia should be considered. (Tier 3) (3;6) (3) (3-7) (8) (3;6) (1) Description of sources of evidence: Tier 1: Evidence from a systematic review, or a meta-analysis or clinical practice guideline clearly based on a systematic review Tier 2: Evidence from clinical practice guidelines or broad-based expert consensus with non-systematic evidence review Tier 3: Evidence from another source with non-systematic review of evidence with primary literature cited Tier 4: Evidence from another source with non-systematic review of evidence with no citations to primary data sources Tier 5: Evidence from a non-systematically identified source 3
4 GENE/GENE PANEL: GLA DISORDER: Fabry disease Topic Narrative Description of Evidence Ref 3. What is the chance that this threat will materialize? Mode of Inheritance Prevalence of Genetic Mutations X-linked Based on 6 studies in newborn screening populations in Europe and Taiwan, the pooled prevalence of newborns with a variant in the GLA gene, which includes variants of undetermined significance, is about 0.04%.(Tier 1) Efforts to establish genotype-phenotype correlations have been limited because most families with Fabry disease are reported to have a private mutation. (10) (1) Across three major Fabry disease registries the following histories were found at baseline: (11) Penetrance OR Relative Risk (include high risk racial or ethnic subgroups) Males (mean age 35-39) Cardiac hypertrophy: 42-59% Chronic kidney disease stage 2: 47-56% Proteinuria: 54-62% Stroke: 7-16% Pain: 79-81% Gastrointestinal symptoms: 55-81% Females (mean age 40-44) Cardiac hypertrophy: 26-35% Chronic kidney disease stage 2: 54-65% Proteinuria: 24-41% Stroke: 4-16% Pain: 56-65% Gastrointestinal symptoms: 50-70% (Tier 5) Expressivity NA Fabry disease encompasses a spectrum of phenotypes ranging from the severe classic phenotype to atypical forms that often lack many of the classical characteristics of the disease (e.g., skin lesion, sweating abnormalities). 4. What is the nature of the intervention? Nature of Intervention Patient management involves non-invasive, multiple organ system medical screening and potentially the use of enzyme replacement therapy. 5. Would the underlying risk or condition escape detection prior to harm in the setting of recommended care? Chance to Escape Clinical Detection It is unlikely that those with the classic form of Fabry disease would be missed in clinical care; however, for female patients and those with late-onset variants, renal and cardiac manifestations, may present with stroke or ESRD as their initial manifestation. Recent studies have found that nearly half of Fabry patients (46%) experience their first stroke before being diagnosed. (1) (6) 4
5 Final Consensus Scores Gene(s) Outcome/intervention pair Severity Likelihood Effectiveness Nature of the Intervention Total Score GLA End stage organ disease/ert (classic 2 3E 1A 2 8EA males) End stage organ disease/ert (late on-set 2 3E 1A 2 8EA males) End stage organ disease/ert (females) 2 3E 1A 2 8EA Stroke prevention/aspirin (Classic males) 2 2E 0B 3 7EB Stroke prevention/aspirin (late on-set 2 2E 0B 3 7EB males) Stroke prevention/aspirin (females) 2 2E 0B 3 7EB To see the scoring key, please go to: Date of Search ( ): Reference List 1. Mehta A, Hughes DA. Fabry Disease. GeneReviews. University of Washington; El Dib RP, Nascimento P, Pastores GM. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev 2013;2:CD Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006 Sep;8(9): Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, et al. Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. Nephrol Dial Transplant 2013 Mar;28(3): Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns 2013 Oct;22(5): Kes VB, Cesarik M, Zavoreo I, Soldo-Butkovic S, Kes P, Basic-Jukic N, et al. Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease. Acta Clin Croat 2013 Sep;52(3): Salviati A, Burlina AP, Borsini W. Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy. Neurol Sci 2010 Jun;31(3): Wang RY, Bodamer OA, Watson MS, Wilcox WR. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med 2011 May;13(5): Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MG, Hollak CE. Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages. J Inherit Metab Dis 2014 May;37(3):
6 10. van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE, et al. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet 2014 Jan;51(1): Sirrs S, Clarke JT, Bichet DG, Casey R, Lemoine K, Flowerdew G, et al. Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative. Mol Genet Metab 2010 Apr;99(4):
YES NO UNKNOWN PENETRANCE ACTIONABILITY SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS. YES (Proceed to Stage II) YES ( 1 of above)
Stage I: Rule-Out Dashboard GENE/GENE PANEL: ATP7B DISORDER: Wilson Disease HGNC ID: 870 OMIM ID: 277900 ACTIONABILITY 1. Is there a qualifying resource, such as a practice guideline or systematic review,
More informationYES NO UNKNOWN. Stage I: Rule-Out Dashboard ACTIONABILITY PENETRANCE SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS. YES ( 1 of above)
Stage I: Rule-Out Dashboard GENE/GENE PANEL: SMAD4, BMPR1A DISORDER: Juvenile Polyposis Syndrome HGNC ID: 6670, 1076 OMIM ID: 174900, 175050 ACTIONABILITY PENETRANCE 1. Is there a qualifying resource,
More informationMedication Policy Manual. Topic: Fabrazyme, agalsidase beta Date of Origin: February 17, 2015
Medication Policy Manual Policy No: dru391 Topic: Fabrazyme, agalsidase beta Date of Origin: February 17, 2015 Committee Approval Date: March 13, 2015 Next Review Date: March 2016 Effective Date: July
More informationACTIONABILITY PENETRANCE SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS. YES ( 1 of above) YES (Proceed to Stage II)
Stage I: Rule-Out Dashboard GENE/GENE PANEL: TNNT2, LMNA HGNC ID: 11949, 6636 ACTIONABILITY 1. Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition?
More informationStage I: Rule-Out Dashboard Secondary Findings in Adults
Stage I: Rule-Out Dashboard GENE/GENE PANEL: DNM2 DISORDER: DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy HGNC ID: 2974 OMIM ID: 606482 ACTIONABILITY PENETRANCE 1. Is there a qualifying resource,
More informationFABRY DISEASE: Phenotypic Spectrum Genotype/Phenotype Correlations Enzyme Replacement Therapy (ERT) R. J. Desnick, Ph.D., M.D.
FABRY DISEASE: Phenotypic Spectrum Genotype/Phenotype Correlations Enzyme Replacement Therapy (ERT) R. J. Desnick, Ph.D., M.D. Director, International Center for Fabry Disease Dean for Genetic & Genomic
More informationYES NO UNKNOWN. Stage I: Rule-Out Dashboard Secondary Findings in Adults ACTIONABILITY PENETRANCE SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS
Stage I: Rule-Out Dashboard HGNC ID: 11949, 6636, 2928 OMIM ID: 191045, 150330, 302045 ACTIONABILITY PENETRANCE 1. Is there a qualifying resource, such as a practice guideline or systematic review, for
More informationYES NO UNKNOWN. Stage I: Rule-Out Dashboard Secondary Findings in Adults ACTIONABILITY PENETRANCE SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS
Stage I: Rule-Out Dashboard HGNC ID: 6998 OMIM ID: 134610 ACTIONABILITY PENETRANCE 1. Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition? 2. Does
More informationStage I: Binning Dashboard
Stage I: Binning Dashboard P[ GENE/GENE PANEL: KCNQ1, KCNH2, SCN5A DISORDER: Romano-Ward Long QT Syndrome HGNC ID: 6294, 6251, 10593 OMIM ID: 192500, 613688, 603830 ACTIONABILITY PENETRANCE 1. Is there
More informationPENETRANCE ACTIONABILITY SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS. YES ( 1 of above) YES (Proceed to Stage II)
Stage I: Binning Dashboard GENE/GENE PANEL: APC ACTIONABILITY 1. Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition? 2. Does the practice guideline
More informationA Unique Disease Uniquely Experienced
A Unique Disease Uniquely Experienced Understanding Fabry disease a serious, progressive disorder with complex pathology 1 Fabry disease is an X-linked lysosomal storage disorder. 1 Caused by a deficiency
More informationFabry Disease and the Kidneys
Department of Human Genetics Division of Medical Genetics Lysosomal Storage Disease Center www.genetics.emory.edu Fabry Disease and the Kidneys What is Fabry Disease? Fabry disease (FD) is an X-linked
More informationGalafold (migalastat) or Fabrazyme (agalsidase beta) Prior Authorization Criteria:
Request for Prior Authorization for Fabry Disease Medications Website Form www.highmarkhealthoptions.com Submit request via: Fax - 1-855-476-4158 All requests for Galafold (migalastat) or Fabrazyme (agalsidase
More informationCardiomyopathy in Fabry s disease
Cardiomyopathy in Fabry s disease Herzinsuffizienzlunch Basel, 11.09.2018 Christiane Gruner Kardiologie, UniversitätsSpital Zürich Content Background / epidemiology Differential diagnosis Clinical presentations
More informationFabry Disease: A rare condition emerging from the darkness
Fabry Disease: A rare condition emerging from the darkness Running Title: Fabry Disease: A rare condition emerging from the darkness Professor Perry Elliott MBBS; MD; FRCP; FESC; FACC Chair of Cardiovascular
More informationYES NO UNKNOWN. Stage I: Rule-Out Dashboard ACTIONABILITY PENETRANCE SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS. YES ( 1 of above)
Stage I: Rule-Out Dashboard GENE/GENE PANEL: ENG, ACVRL1, SMAD4, GDF2 DISORDER: Hereditary Hemorrhagic Telangiectasia HGNC ID: 3349, 175, 6770, 4217 OMIM ID: 187300, 600376, 175050, 615506 ACTIONABILITY
More informationAssessment report. for
Assessment report for FABRAZYME agalsidase beta Assessment report on the shortage of Fabrazyme Overview of Shortage Period: Spontaneous Reports from June 2009 through 15 September and Registry Data from
More informationFabry Disease in Latin America: Data from the Fabry Registry
JIMD Reports DOI 10.1007/8904_2012_165 RESEARCH REPORT Fabry Disease in Latin America: Data from the Fabry Registry J. Villalobos J.M. Politei A.M. Martins G. Cabrera H. Amartino R. Lemay S. Ospina S.
More informationYin-Hsiu Chien, 1 Ni-Chung Lee, 1 Shu-Chuan Chiang, 1 Robert J Desnick, 2 and Wuh-Liang Hwu 1
Fabry Disease: Incidence of the Common Later-Onset α-galactosidase A IVS4+919G A Mutation in Taiwanese Newborns Superiority of DNA-Based to Enzyme-Based Newborn Screening for Common Mutations Yin-Hsiu
More informationHeart disease. Other symptoms too? FABRY DISEASE IN PATIENTS WITH UNEXPLAINED HEART CONDITIONS
Heart disease Other symptoms too? FABRY DISEASE IN PATIENTS WITH UNEXPLAINED HEART CONDITIONS You have been given this brochure because your heart condition may be linked to Fabry disease, which is a rare,
More informationYES NO UNKNOWN. Stage I: Rule-Out Dashboard Secondary Findings in Adults ACTIONABILITY PENETRANCE SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS
Stage I: Rule-Out Dashboard GENE/GENE PANEL: TTR DISORDER: Hereditary transthyretin-related amyloidosis HGNC ID: 12405 OMIM ID: 105210 ACTIONABILITY PENETRANCE 1. Is there a qualifying resource, such as
More informationFabry disease: when to suspect it and how to treat it
Fabry disease: when to suspect it and how to treat it Catalina Martín Cleary Alberto Ortiz Arduán, MD, PhD IIS-Fundacion Jimenez Diaz, UAM IRSIN, REDINREN Madrid, Spain Conflict of interest Consultant:
More informationFabry RADAR 2007 The Fabry Registry Aggregate Data Annual Report
Fabry RADAR 2007 The Fabry Registry Aggregate Data Annual Report A program supported by Genzyme Fabr/GL/P341/05/07 2007 Genzyme Corporation. All rights reserved. Table of Contents I. II. III. IV. V. VI.
More informationScreening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation
Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation Ana Baptista, Pedro Magalhães, Sílvia Leão, Sofia Carvalho, Pedro Mateus, Ilídio Moreira Centro Hospitalar
More informationHeterozygous Fabry Disease Females Are Not Just Carriers, But Suffer From
Heterozygous Fabry Disease Females Are Not Just Carriers, But Suffer From Significant Burden of Disease And Impaired Quality of Life Raymond Wang, M.D. Children s Hospital of Orange County Division of
More informationPENETRANCE ACTIONABILITY SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS. YES (Proceed to Stage II) YES ( 1 of above)
Stage I: Rule-Out Dashboard GENE/GENE PANEL: TSC1, TSC2 DISORDER: Tuberous Sclerosis Complex (TSC) HGNC ID: 12362, 12363 OMIM ID: 191100, 613254 ACTIONABILITY 1. Is there a qualifying resource, such as
More informationYES NO UNKNOWN. Stage I: Rule-Out Dashboard Secondary Findings in Adults ACTIONABILITY PENETRANCE SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS
Stage I: Rule-Out Dashboard GENE/GENE PANEL: LMNA, EMD, FHL1 DISORDER: Emery-Dreifuss Muscular Dystrophy (AD, XL) HGNC ID: 6636, 3331, 3702 OMIM ID: 181350, 310300, 300696 ACTIONABILITY PENETRANCE 1. Is
More informationYES NO UNKNOWN. Stage I: Rule-Out Dashboard Secondary Findings in Adults ACTIONABILITY PENETRANCE SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS
Stage I: Rule-Out Dashboard HGNC ID: 9585 OMIM ID: 109400 ACTIONABILITY PENETRANCE 1. Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition? 2. Does
More informationClinical Appearance and Management of Fabry Nephropathy in Greece
BANTAO Journal 2010; 8 (2): 75-80 BJ BANTAO Journal Original article Clinical Appearance and Management of Fabry Nephropathy in Greece Andrikos K. Emilios 1, Iatrou E. Christos 2, Boletis N. John 3, Diamandopoulos
More informationPedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females
Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females B.E. Gutiérrez-Amavizca 1,2, R. Orozco-Castellanos 3,4, J. R. Padilla-Gutiérrez 5,
More informationEnzyme replacement therapy in Fabry disease, towards individualized treatment Arends, M.
UvA-DARE (Digital Academic Repository) Enzyme replacement therapy in Fabry disease, towards individualized treatment Arends, M. Link to publication Citation for published version (APA): Arends, M. (2017).
More informationThis presentation contains forward looking statements within the meaning of the Private Securities Litigation Reform Act of 1995 relating to business,
American Society of Nephrology (ASN) Migalastat Monotherapy Phase 3 Data N November b 15 15, 2014 Safe Harbor This presentation contains forward looking statements within the meaning of the Private Securities
More informationGALAFOLD (migalastat) oral capsule
GALAFOLD (migalastat) oral capsule Coverage for services, procedures, medical devices and drugs are dependent upon benefit eligibility as outlined in the member's specific benefit plan. This Pharmacy Coverage
More informationHemizygous Fabry disease associated with IgA nephropathy: A case report
1 Hemizygous Fabry disease associated with IgA nephropathy: A case report Fabry disease and IgA nephropathy Homare Shimohata 1, 3, Keigyou Yoh 1, Kenji Takada 2, Hiroaki Tanaka 2, Joichi Usui 1, Kouichi
More informationPrevalence of anemia and cardiovascular diseases in chronic kidney disease patients: a single tertiary care centre study
International Journal of Advances in Medicine Sathyan S et al. Int J Adv Med. 2017 Feb;4(1):247-251 http://www.ijmedicine.com pissn 2349-3925 eissn 2349-3933 Original Research Article DOI: http://dx.doi.org/10.18203/2349-3933.ijam20170120
More informationFigure S1. LVMi Change over 18 months on Migalastat and ERT
Figure S1. LVMi Change over 18 months on Migalastat and ERT Mean change to month 18 in mitt patients (all randomized, treated patients with amenable mutations); LVMi decreased significantly (95% CI does
More information2011 HCM Guideline Data Supplements
Data Supplement 1. Genetics Table Study Name/Author (Citation) Aim of Study Quality of life and psychological distress quality of life and in mutation psychological carriers: a crosssectional distress
More informationGENETICS 101. An overview of human genetics and practical applications from an adult medical genetics clinic
GENETICS 101 An overview of human genetics and practical applications from an adult medical genetics clinic Historical timeline of genetics Discuss basics of genetics Discuss tools used in clinic Discuss
More informationAnderson Fabry disease: Ten year outcome of enzyme replacement therapy in a renal transplant patient
CASE REPORT Port J Nephrol Hypert 2016; 30(2): 000-000 Advance Access publication 24 April 2016 Anderson Fabry disease: Ten year outcome of enzyme replacement therapy in a renal transplant patient Department
More informationClinical Diversity in Patients with Anderson-Fabry Disease with the R301Q Mutation
doi: 10.2169/internalmedicine.0959-18 Intern Med Advance Publication http://internmed.jp CASE REPORT Clinical Diversity in Patients with Anderson-Fabry Disease with the R301Q Mutation Saori Yamamoto 1,
More informationFabry disease is a rare X-linked metabolic disorder caused by
ARTICLE Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry Torquil Watt, MD 1, Alessandro P. Burlina, MD 2, Chiara Cazzorla,
More informationFabry meets Markov: evaluating biochemistry, disease course and costs in support of health care policy Rombach, S.M.
UvA-DARE (Digital Academic Repository) Fabry meets Markov: evaluating biochemistry, disease course and costs in support of health care policy Rombach, S.M. Link to publication Citation for published version
More informationEffectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years treatment
Kampmann et al. Orphanet Journal of Rare Diseases (205) 0:25 DOI 0.86/s02-05-08-2 RESEARCH Open Access Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 0 years
More information: A Study Examining the Prevalence of Transthyretin Mutations in Subjects Suspected of Having Cardiac Amyloidosis
: A Study Examining the Prevalence of Transthyretin Mutations in Subjects Suspected of Having Cardiac Amyloidosis 02 November 2015 1 Background and Rationale Cardiac amyloidosis is caused by extracellular
More informationWhat Clinicians Need to Know About Genetic Testing for Patients and Families with HCM
What Clinicians Need to Know About Genetic Testing for Patients and Families with HCM Sharon Cresci, MD Assistant Professor of Medicine Assistant Professor of Genetics Cardiovascular Division Washington
More informationFabry Outcome Survey
Fabry Outcome Survey Annual Report 2016 Reporting Period: 17-04-2001 to 05-01-2017 This report has been prepared by Shire Outcome Surveys, on behalf of the FOS Steering Committee Date of preparation: August
More informationAntiplatelet Therapy in Primary CVD Prevention and Stable Coronary Artery Disease. Καρακώστας Γεώργιος Διευθυντής Καρδιολογικής Κλινικής, Γ.Ν.
Antiplatelet Therapy in Primary CVD Prevention and Stable Coronary Artery Disease Καρακώστας Γεώργιος Διευθυντής Καρδιολογικής Κλινικής, Γ.Ν.Κιλκίς Primary CVD Prevention A co-ordinated set of actions,
More informationPlasma lyso-gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy
Clinical and Experimental Nephrology (218) 22:843 849 https://doi.org/1.17/s1157-17-1525-3 ORIGINAL ARTICLE Plasma lyso-gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy
More informationStage I: Binning Dashboard
ACTIONABILITY 1. Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition? Stage I: Binning Dashboard GENE/GENE PANEL: MYBPC3, MYH7, TNNT2, TNNI3, TPM1,
More informationCase # 2 3/27/2017. Disclosure of Relevant Financial Relationships. Clinical history. Clinical history. Laboratory findings
Case # 2 Christopher Larsen, MD Arkana Laboratories Disclosure of Relevant Financial Relationships USCAP requires that all planners (Education Committee) in a position to influence or control the content
More informationQuestioning the Pathogenic Role of the GLA p.ala143thr Mutation in Fabry Disease: Implications for Screening Studies and ERT
JIMD Reports DOI 10.1007/8904_2012_167 RESEARCH REPORT Questioning the Pathogenic Role of the GLA p.ala143thr Mutation in Fabry Disease: Implications for Screening Studies and ERT W. Terryn R. Vanholder
More informationP.K. Tandon, PhD J. Alexander Cole, DSc. Use of Registries for Clinical Evaluation of Rare Diseases
Disclaimer: Presentation slides from the Rare Disease Workshop Series are posted by the Kakkis EveryLife Foundation, for educational purposes only. They are for use by drug development professionals and
More informationThe CARI Guidelines Caring for Australasians with Renal Impairment. Protein Restriction to prevent the progression of diabetic nephropathy GUIDELINES
Protein Restriction to prevent the progression of diabetic nephropathy Date written: September 2004 Final submission: September 2005 Author: Kathy Nicholls GUIDELINES a. A small volume of evidence suggests
More informationMedication Policy Manual. Topic: Lumizyme, alglucosidase alfa Date of Origin: February 17, 2015
Medication Policy Manual Policy No: dru392 Topic: Lumizyme, alglucosidase alfa Date of Origin: February 17, 2015 Committee Approval Date: March 13, 2015 Next Review Date: March 2016 Effective Date: July
More informationThe CARI Guidelines Caring for Australians with Renal Impairment. Cardiovascular Risk Factors
Cardiovascular Risk Factors ROB WALKER (Dunedin, New Zealand) Lipid-lowering therapy in patients with chronic kidney disease Date written: January 2005 Final submission: August 2005 Author: Rob Walker
More informationFabry Disease X-linked genetic, multi-organ disorder. Fabry disease screening program in Hypertrophic p Cardiomyopathy: preliminary results.
Fabry Disease X-linked genetic, multi-organ disorder Fabry disease screening program in Hypertrophic p Cardiomyopathy: y preliminary results. Globotriaosylceramide, GL3 Brain -galactosidase A Eyes Lactosylceramide
More informationDNA Day Illinois 2013 Webinar: Newborn Screening and Family Health History. Tuesday, April 16, 2013
DNA Day Illinois 2013 Webinar: Newborn Screening and Family Health History Tuesday, April 16, 2013 Objectives Recognize the importance & impact of newborn screening Describe the process of newborn screening
More informationUSRDS UNITED STATES RENAL DATA SYSTEM
USRDS UNITED STATES RENAL DATA SYSTEM Chapter 2: Identification and Care of Patients With CKD Over half of patients from the Medicare 5 percent sample have either a diagnosis of chronic kidney disease
More informationChapter 2: Identification and Care of Patients With Chronic Kidney Disease
Chapter 2: Identification and Care of Patients With Chronic Kidney Disease Introduction The examination of care in patients with chronic kidney disease (CKD) is a significant challenge, as most large datasets
More informationFabry Disease: A complex multisystem disorder
Fabry Disease: A complex multisystem disorder Dr. Bertram Henderson Division of Clinical Genetics, UFS/FPA 1 2 Speaker Disclosure The speaker has received sponsorship from Sanofi Genzyme to attend workshops,
More informationComorbidity or medical history Existing diagnoses between 1 January 2007 and 31 December 2011 AF management care AF symptoms Tachycardia
Supplementary Table S1 International Classification of Disease 10 (ICD-10) codes Comorbidity or medical history Existing diagnoses between 1 January 2007 and 31 December 2011 AF management care I48 AF
More informationThe importance of follow-up after a cardiac event: CARDIAC REHABILITATION. Dr. Guy Letcher
The importance of follow-up after a cardiac event: CARDIAC REHABILITATION Dr. Guy Letcher The National Medicare Experience Mortality After Angioplasty 225,915 patients Mortality After Bypass Surgery 357,885
More informationAngiotensin Converting Enzyme inhibitor (ACEi) / Angiotensin Receptor Blocker (ARB) To STOP OR Not in Advanced Renal Disease
Angiotensin Converting Enzyme inhibitor (ACEi) / Angiotensin Receptor Blocker (ARB) To STOP OR Not in Advanced Renal Disease Investigator Meeting 12 th September 2017 - Sheffield Prof Sunil Bhandari Consultant
More informationCatheter-based mitral valve repair MitraClip System
Percutaneous Mitral Valve Repair: Results of the EVEREST II Trial William A. Gray MD Director of Endovascular Services Associate Professor of Clinical Medicine Columbia University Medical Center The Cardiovascular
More informationGenetics of Steroid Resistant Nephrotic syndrome. Velibor Tasic University Children s Hospital Skopje, Macedonia
Genetics of Steroid Resistant Nephrotic syndrome Velibor Tasic University Children s Hospital Skopje, Macedonia Nephrotic syndrome - definition Oedema Massive proteinuria (> 50mg/kg/d or> 40mg/m2/h Hypoalbuminemia
More informationF ab ry or n ot F ab ry
F ab ry or n ot F ab ry from genetics to diagnosis Linda van der Tol F ab ry or n ot F ab ry From genetics to diagnosis Linda van der Tol ISBN/EAN: 978-94-6259-604-7 Cover and lay-out: Ilse Stronks, persoonlijkproefschrift.nl
More informationFabry disease: An underrecognized cause of proteinuria
http://www.kidney-international.org & 2008 International Society of Nephrology the renal consult Fabry disease: An underrecognized cause of proteinuria FC Fervenza 1, R Torra 2 and DJ Lager 3 1 Department
More informationPrecision Medicine and Genetic Counseling : Is Yes always the correct answer?
Precision Medicine and Genetic Counseling : Is Yes always the correct answer? Beverly M. Yashar, MS, PhD, CGC Director, Graduate Program in Genetic Counseling Professor, Department of Human Genetics. (yashar@umich.edu)
More informationThe CARI Guidelines Caring for Australasians with Renal Impairment. Specific management of IgA nephropathy: role of fish oil
Specific management of IgA nephropathy: role of fish oil Date written: July 2005 Final submission: September 2005 Author: Merlin Thomas GUIDELINES Early and prolonged treatment with fish oil may retard
More informationPublished trials point to a detrimental relationship
ANEMIA, CHRONIC KIDNEY DISEASE, AND CARDIOVASCULAR DISEASE: THE CLINICAL TRIALS Steven Fishbane, MD* ABSTRACT Clinical trials have shown a strong detrimental relationship among anemia, chronic kidney disease
More informationReview Article Fabry Disease and Early Stroke
SAGE-Hindawi Access to Research Stroke Research and Treatment Volume 2011, Article ID 615218, 7 pages doi:10.4061/2011/615218 Review Article Fabry Disease and Early Stroke U. Feldt-Rasmussen 1, 2 1 Department
More informationEnzyme replacement therapy in Fabry disease, towards individualized treatment Arends, M.
UvA-DARE (Digital Academic Repository) Enzyme replacement therapy in Fabry disease, towards individualized treatment Arends, M. Link to publication Citation for published version (APA): Arends, M. (2017).
More informationWhat s New in Newborn Screening?
What s New in Newborn Screening? Funded by: Illinois Department of Public Health Information on Newborn Screening Newborn screening in Illinois is mandated and administered by the Illinois Department of
More informationRisk Factors for Ischemic Stroke: Electrocardiographic Findings
Original Articles 232 Risk Factors for Ischemic Stroke: Electrocardiographic Findings Elley H.H. Chiu 1,2, Teng-Yeow Tan 1,3, Ku-Chou Chang 1,3, and Chia-Wei Liou 1,3 Abstract- Background: Standard 12-lead
More informationHighly specialised technologies guidance Published: 22 February 2017 nice.org.uk/guidance/hst4
Migalastat for treating Fabry disease Highly specialised technologies guidance Published: 22 February 2017 nice.org.uk/guidance/hst4 NICE 2018. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and-conditions#notice-ofrights).
More informationDEVELOPING A FOLLOW-UP FRAMEWORK FOR POMPE DISEASE
DEVELOPING A FOLLOW-UP FRAMEWORK FOR POMPE DISEASE Presenter: Sarah Bradley, MS, CGC Genetic Counselor, NYS Newborn Screening Program Authors: S. Bradley, D. Kronn, B. Vogel, M. Caggana, J. Orsini, K.
More informationLong-Term Effect of Antibodies against Infused Alpha- Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)gb3 Reduction and Treatment Outcome
Long-Term Effect of Antibodies against Infused Alpha- Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)gb3 Reduction and Treatment Outcome Saskia M. Rombach 1, Johannes M. F. G. Aerts 2, Ben
More informationEnzyme replacement therapy in Fabry disease, towards individualized treatment Arends, M.
UvA-DARE (Digital Academic Repository) Enzyme replacement therapy in Fabry disease, towards individualized treatment Arends, M. Link to publication Citation for published version (APA): Arends, M. (2017).
More informationChronic Kidney Disease. Dr Mohan B. Biyani A. Professor of Medicine University of Ottawa/Ottawa Hospital
Chronic Kidney Disease Dr Mohan B. Biyani A. Professor of Medicine University of Ottawa/Ottawa Hospital Health Seminar Series Date 12 May 2013 Objectives Normal functioning of Kidneys. Risk factors to
More information23-Jun-15. Albuminuria Renal and Cardiovascular Consequences A history of progress since ,490,000. Kidney Center, UMC Groningen
Kidney function (egfr in ml/min) Albuminuria (mg/hr) Incidentie ESRD (%) 3-Jun- Number of patients worldwide that receives kidney replacement therapy Albuminuria Renal and Cardiovascular Consequences A
More informationFabry Registry Annual Report 2010
Fabry Registry Annual Report 2010 (This report covers data collected through 31 December 2009) FMRB-0009-01 Table of Contents I. Foreword...2 II. Introduction...3 III. SELECTED CURRENT DATA...4 Women
More informationMEDICAL POLICY SUBJECT: COGNITIVE REHABILITATION. POLICY NUMBER: CATEGORY: Therapy/Rehabilitation
MEDICAL POLICY SUBJECT: COGNITIVE REHABILITATION PAGE: 1 OF: 5 If a product excludes coverage for a service, it is not covered, and medical policy criteria do not apply. If a commercial product (including
More informationThe CARI Guidelines Caring for Australasians with Renal Impairment. Specific management of IgA nephropathy: role of steroid therapy GUIDELINES
Specific management of IgA nephropathy: role of steroid therapy Date written: July 2005 Final submission: September 2005 Author: Merlin Thomas GUIDELINES Steroid therapy may protect against progressive
More informationStage I: Rule-Out Dashboard Secondary Findings in Adults
ACTIONABILITY Stage I: Rule-Out Dashboard GENE/GENE PANEL: MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, DISORDER: Familial Hypertrophic Cardiomyopathy (HCM) PRKAG2, MYL2, CSRP3 HGNC ID: 7551, 7577, 11949,
More informationYES NO UNKNOWN. Stage I: Rule-Out Dashboard Secondary Findings in Adults ACTIONABILITY PENETRANCE SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS
Stage I: Rule-Out Dashboard GENE/GENE PANEL: COL5A1, COL5A2 DISORDER: Ehlers-Danlos Syndrome, Classic Type HGNC ID: 2209, 2210 OMIM ID: 130000 ACTIONABILITY PENETRANCE 1. Is there a qualifying resource,
More informationS2 Protein augmentation therapies for inherited disorders 1
Disease category Disorder S2 Protein augmentation therapies for inherited 1 Augmented protein 2 Source of therapeutic protein / peptide Outcome References 3 Membrane transport Coagulation Cystic fibrosis
More informationReducing proteinuria
Date written: May 2005 Final submission: October 2005 Author: Adrian Gillin Reducing proteinuria GUIDELINES a. The beneficial effect of treatment regimens that include angiotensinconverting enzyme inhibitors
More informationYES NO UNKNOWN. Stage I: Rule-Out Dashboard Secondary Findings in Adults ACTIONABILITY PENETRANCE SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS
Stage I: Rule-Out Dashboard GENE/GENE PANEL: GAA DISORDER: Glycogen storage disease II (GSD2) HGNC ID: 4065 OMIM ID: 232300 ACTIONABILITY PENETRANCE 1. Is there a qualifying resource, such as a practice
More informationWhat s New in Newborn Screening?
What s New in Newborn Screening? Funded by: Illinois Department of Public Health Information on Newborn Screening Newborn screening in Illinois is administered by the Illinois Department of Public Health.
More informationHYPERTENSION AND HEART FAILURE
HYPERTENSION AND HEART FAILURE Kenya Cardiac Society Symposium Feb 2017 Dr Jeilan Mohamed No conflict of interests . Geoffrey, 45 yr old hypertensive office worker male from Nairobi, has just watched his
More informationEPIDEMIOLOGY OF ARRHYTHMIAS AND OUTCOMES IN CKD & DIALYSIS KDIGO. Wolfgang C. Winkelmayer, MD, ScD Baylor College of Medicine Houston, Texas
EPIDEMIOLOGY OF ARRHYTHMIAS AND OUTCOMES IN CKD & DIALYSIS Wolfgang C. Winkelmayer, MD, ScD Baylor College of Medicine Houston, Texas Disclosure of Interests AstraZeneca (scientific advisory board) Bayer
More informationALLHAT RENAL DISEASE OUTCOMES IN HYPERTENSIVE PATIENTS STRATIFIED INTO 4 GROUPS BY BASELINE GLOMERULAR FILTRATION RATE (GFR)
1 RENAL DISEASE OUTCOMES IN HYPERTENSIVE PATIENTS STRATIFIED INTO 4 GROUPS BY BASELINE GLOMERULAR FILTRATION RATE (GFR) 6 / 5 / 1006-1 2 Introduction Hypertension is the second most common cause of end-stage
More informationDr. Mehmet Kanbay Department of Medicine Division of Nephrology Istanbul Medeniyet University School of Medicine Istanbul, Turkey.
The uric acid dilemma: causal risk factor for hypertension and CKD or mere bystander? Mehmet Kanbay, Istanbul, Turkey Chairs: Anton H. van den Meiracker, Rotterdam, The Netherlands Claudia R.C. Van Roeyen,
More informationSUPPLEMENTAL MATERIAL
SUPPLEMENTAL MATERIAL 1 Supplemental Table 1. ICD codes Diagnoses, surgical procedures, and pharmacotherapy used for defining the study population, comorbidity, and outcomes Study population Atrial fibrillation
More informationSupplementary Online Content
Supplementary Online Content Inohara T, Manandhar P, Kosinski A, et al. Association of renin-angiotensin inhibitor treatment with mortality and heart failure readmission in patients with transcatheter
More informationAssociation of Type-2 Diabetes and In-Hospital Mortality in Puerto Rican Patients Hospitalized with Decompensated Heart Failure
Association of Type-2 Diabetes and In-Hospital Mortality in Puerto Rican Patients Hospitalized with Decompensated Heart Failure Layla Cavitt, Yanel De Los Santos, Matthew Gates, Juan-Carlos Zevallos, MD,
More informationFabry nephropathy: a review how can we optimize the management of Fabry nephropathy?
Waldek and Feriozzi BMC Nephrology 2014, 15:72 REVIEW Open Access Fabry nephropathy: a review how can we optimize the management of Fabry nephropathy? Stephen Waldek 1* and Sandro Feriozzi 2 Abstract Fabry
More information"Asymptomatic" Hyperparathyroidism: Reasons for Parathyroidectomy
"Asymptomatic" Hyperparathyroidism: Reasons for Parathyroidectomy Rebecca S. Sippel, M.D. Assistant Professor Department of Surgery Section of Endocrine Surgery University of Wisconsin Primary Hyperparathyroidism
More information