Disclosures. Learning Objectives. What is Cystic Fibrosis? Background
|
|
- Emily Evans
- 6 years ago
- Views:
Transcription
1 39 th National Conference on Pediatric Health Care March 19-22, 2018 CHICAGO Disclosures The Vision and the Journey of Cystic Fibrosis: Newborn Screening to Breakthrough Therapy March 20, 2018 Cynthia Brady, DNP, CPNP AC The speaker has no financial interests or relationships regarding the subject matter of this presentation to disclose Learning Objectives Describe the basic defect of cystic fibrosis (CF) Interpret results of CF Newborn Screening Program Understand how the Cystic Fibrosis Foundation supports advances in care and life expectancy Recognize how CF centers use CFF registry data to provide and improve care Appreciate breakthroughs in research for CF Woe to the child that tastes salty when kissed on the brow, for he is cursed and will soon die Northern European Folklore What is Cystic Fibrosis? Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time Background Initially identified in 1938 as cystic fibrosis of the pancreas Incidence of 1/~3,500 births in the United States 1/3,200 Caucasian 1/8,000 Latino 1/15,000 African American 1/30,000 Asian 1:30 carrier status in Caucasian Americans 1
2 Genetics of Cystic Fibrosis CF occurs when a person has two CFTR mutations, one from each parent A child born to two carriers of CF has 25% chance of having CF 50% chance of being a carrier 25% chance of being neither a carrier or having clinical disease Most often in new diagnoses, there is no family history of CF CF Basic Defect Video Video 1 CFTR Mutation Mechanisms of Action How is Cystic Fibrosis Diagnosed? Cystic Fibrosis Infection, Inflammation Blocked ducts, Impaired mucosal defense Altered secretions Ion transport CFTR protein CFTR DNA CF lung disease begins at birth Abnormal CFTR protein and abnormal mucus causes: Obstruction Respiratory tract infection Inflammation Leading to: Structural damage Bronchiectasis Pulmonary insufficiency Eventually causing respiratory failure 1 Clinical Symptoms Chronic, productive cough Excessive sweat, salty taste Failure to thrive or poor weight gain, despite voracious appetite Greasy, foul smelling stools 2 Newborn Screening Pre symptomatic diagnosis In 2016, 624% of total new CF diagnoses and 86% of diagnoses among those less than 6 months old were detected by newborn screening Diagnostic Laboratory Studies CF Diagnosis 1 Quantitative sweat chloride* < 30 meq/l UNLIKELY CF meq/l INTERMEDIATE, INCONCLUSIVE > 60 meq/l POSITIVE DIAGNOSTIC FOR CYSTIC FIBROSIS 2 CFTR molecular testing Blood test to identify CFTR mutations What is Newborn Screening? Blood spot more than 50 metabolic, endocrine, blood, pulmonary/digestive, and immune disorders Hearing loss of hearing in the range where speech is heard Pulse oximetry critical congenital heart disease The term PKU test is not accurate and confuses parents! *Infants < 6 months (Farrell et al, Guidelines for Diagnosis of Cystic Fibrosis in the Era of Newborn Screening J Pediatrics 153:S4, 2008) 2
3 Why Screen for Cystic Fibrosis? 1 Nutrition and Growth Better growth persists into teen years Few cough symptoms, higher FEV 1 and better chest x ray scores at 6 years of age (Lai et al, Pediatrics, 2009;123: ) 2 Cognitive Development Vitamin E deficiency correlated with significantly lower memory skills Early nutritional insult associated with stunted cognitive development 3 Survival Decreased number of deaths in patients screened vs nonscreened Prevents fatal protein calorie malnutrition and electrolyte imbalance in infants; saves lives! (Waters et al, 1999), (Farrell et al, 2005) Why Screen for Cystic Fibrosis? 4 Pulmonary Benefit Variable outcomes: Significantly higher FEV 1 in patients diagnosed by newborn screen Adolescents diagnosed via newborn screening normal pulmonary function 5 Early Specialist Care Careful, frequent comprehensive evaluations by a mul disciplinary team Avoidance of complica ons and preven on of lung disease Careful nutri onal management Improve quality of life Why Screen for Cystic Fibrosis? 6 Parents and Family Members Genetic counseling Prevent misunderstandings Reproductive decision making Identification of carrier parents and other family members Identification of other affected family members Viewed as favorable by families: With an infant identified by newborn screening With an infant identified as being a carrier by newborn screening Why Screen for Cystic Fibrosis? 7 Society Cost effectiveness Lower annual cost per newly diagnosed CF infant via newborn screen vs diagnosed CF patient based on clinical symptoms Helps to eliminate disparities associated with access to services Newborn Screening in Minnesota High throughput lab (~70,000 births/year) Birth hospitals record demographics, collect samples, and send specimen cards to the Minnesota Department of Health Screening complete ~1 week Newborn Screening Step One State Newborn Screening Laboratory All specimens analyzed for Immunoreactive Trypsinogen (IRT) Pancreatic enzyme 3
4 Newborn Screening Step Two State Newborn Screening Laboratory Elevated IRT triggers mutation analysis 2 MUTATIONS: MOST LIKELY CF 1 MUTATION: MOST LIKELY A CARRIER CF Mutation Panel: Newborn Screening Step Three Referral for Sweat Test in an accredited CF center ΔF G>A W1282X 2307insA ΔI507 R560T N1303K Y1092X> G542X R553X 394delTT M1101K G85E G551D Y122X S1255X R117H G>A R347H 3876delA 621+1G>T 2184delA V520F 3905insT 711+1G>T G>A A559T 1078delT G>A S549N 5T/7T/9T S549R R334W R1162X F508C R347P 3659delC G>T I507V A455E kbC>T 2183AA>G I506V Laboratory Screening Algorithm MN Cystic Fibrosis Data 2015 repeat IRT is elevated IRT values >170 and IRT 96 percentile (based on daily curve that excludes IRT values greater than 170) 0 mutations BORDERLINE mutation analysis Run IRT 1 or 2 mutations repeat IRT is normal POSITIVE IRT < 96 percentile (based on daily curve that excludes IRT values greater than 170) NEGATIVE Positive result reported to Primary Care for referral to accredited CF center for sweat test 53% flagged for 2 nd tier molecular testing 68,490 infants screened 274 infants referred by NBS for sweat testing 239 diagnosed as Carriers 25 diagnosed with CF 10 diagnosed with CRMS MDH was notified of 1 false negative POSITIVE NEGATIVE YOU Can Make a Difference If newborn screen is positive for CF Ensure you have received and reviewed NBS report Make sure you understand the screening result and recommended follow up Call health department or accredited CF center if you don t Be informed of information given to families at time of diagnosis to reinforce recommendations made by CF center Help coordinate necessary follow up appointments Communicate result with the family 4
5 Critical Times for Parents Being informed of positive screening result Family history CFTR related metabolic syndrome Range of emotions Waiting for sweat test Genetic counseling appointment at the time of sweat test Step 3: Sweat Chloride Testing Necessary to confirm or rule out CF after a positive screening result for CF Should be performed at a CF Center following CFF guidelines May be done when infant is 3 4 weeks old (> 2 kg) Sweat is collected for 30 minutes Sweat chloride concentration is quantified STEP THREE Sweat test and appointment with Genetic counselor Positive Sweat test (>60) Intermediate sweat Test(30 60) Negative Sweat Test (<30) Quantity not sufficient Baby has Cystic Fibrosis May be milder form of CF Baby is most likely a carrier Repeat in 4 weeks Begin CF Care in CF Center Follow up in CF Center Genetic Counseling Cystic Fibrosis: A Patient s Perspective Cystic Fibrosis Foundation The mission of the Cystic Fibrosis Foundation is to cure cystic fibrosis and to provide all people with the disease the opportunity to lead full, productive lives by funding research and drug development, promoting individualized treatment and ensuring access to high quality, specialized care Video 2 cfforg 5
6 Ensuring access to high quality, specialized care: CF Care Center Accreditation, support for team registry CF Care Model Patient referred to CF Center for initial evaluation Multi disciplinary team concept: CF physician/nurse Practitioner Nurse Coordinator Social worker Dietician Physical therapist/respiratory therapist Genetic counselor Psychologist Pharmacist Research Coordinator Courtesy childrensmnorg Patient Registry National data Data to identify health trends, effective treatments, and potential research opportunities Research Quality Track guidelines Collective data Center data Patient data CF Foundation: Evidence Based Guidelines Panel of multi disciplinary experts Review literature published in peer reviewed journals CF Chronic therapies Pseudomonas Pre school care CFTR modulator drugs Registry Report: All Centers Improving Care for Children with CF 1 Nutrition and Growth Reduce the proportion of children in nutritional failure by increasing use of nutritional status classification Self management goals Appropriate interventions in order to increase BMI percentiles Monitor growth parameters (height, weight, BMI) 2 Lung Function Maintain lung function by diagnosing problems early and treating quickly Monitor lung function with pulmonary function tests (PFTs) including FEV 1 6
7 Lung Function Improvement Project Adherence to Four Interventions Proven in Large Prospective Trials Pulmozyme, Hypertonic saline and Tobi and Azithromycin in Pseudomonas Positive Patients Registry Report: All Centers FEV 1 vs BMI Statistically significant improvement in prescribing Pulmozyme, hypertonic saline, and Tobi (p=0011) Hypertonic saline and Tobi positively improved mean FEV1 (p=0018 and p=0011) Moderate correlation between improved adherence and improved mean FEV 1 (R=0533) Registry Report: Care Center Children s Hospitals and Clinics Minneapolis, MN * Adjusted for attained age of patients, gender, pancreatic sufficiency, race/ethnicity, socioeconomic status, and age of diagnosis This data was reported to the CF Foundation's Patient Registry January 1, 2013 through December 31, 2013 Individual Registry Report Median Life Expectancy 7
8 Life Expectancy with Current Treatments cfforg Nutrition Exocrine Pancreatic Insufficiency is the most common GI complication related to CF Thick, sticky mucus obstructs pancreatic ducts and prevents enzymes from reaching gut and digesting food properly Affects approximately 85% of patients Symptoms Steatorrhea Malabsorption/Malnutrition, failure to thrive Fat soluble vitamin deficiencies Treatment Digestive Enzymes Digest carbohydrate, protein, and fat Current Therapies Mucociliary Clearance Video 3 Dornase alpha Placebo rhdnase Category Before After Before After Severity of bronchiectasis 008 ± ± ± ± 029 Peribronchial thickening 042 ± ± ± ± 048 Air trapping 042 ± ± ± ± 029 Infection/Inflammation Patients with CF are more likely to develop bacterial infections due to increased mucus burden (acute or chronic exacerbations) Treatment o Antibiotics Inhaled Aztreonam Tobramycin Oral Cipro, Levofloxacin, Cephalexin, TMP/SMX IV Tobramycin, Ceftazadime, Vancomycin Meropenem Ciprofloxacin, levofloxacin Chronic Azithromycin 8
9 Advances in Research (Treating the Basic Defect) Video 4 CFTR Gating Mutations CFTR protein is imbedded in epithelial cell membranes and is shaped like a tunnel Gated to allow passage of chloride into/out of the cell Gating mutations prevent the normal movement of chloride into the cell due to defective, closed gate Ivacaftor is a CFTR potentiator that binds to the channel itself, increasing the frequency of gate opening Ivacaftor is approved for use in 33 mutations Video 5 Absolute Change from Baseline Through Wk 48 in Percent Predicted FEV 1 B Ramsey et al NEJM 365: (2011) Change from Baseline in Sweat Chloride Levels B Ramsey et al NEJM 365: (2011) 9
10 Personalized Medicine Personalized medicine Based on a patient s mutations Theratyping new FDA process Matching Mutations to CFTR Modulators in the Lab by testing modulator response in a cell CFTR modulators currently approved by the FDA 1 Ivacaftor approved 2012 with clinical trails for 10 mutations 22 more mutation were approved in 2017 with theratyping 2 Lumacaftor/Ivacaftor approved for homozygous ΔF508 mutations Folding Mutations Class II CFTR protein is created, but misfolded, keeping it from reaching the cell surface ΔF508 Lumacaftor + ivacaftor (ORKAMBI ) Approved for use in patients 6yrs + with 2 copies of ΔF508 Lumacaftor helps get more CFTR protein to the cell surface Ivacaftor corrects faulty gate, allowing chloride to flow in/out of the cell Tezacaftor + ivacaftor (Phase 3) Class I mutations CFTR protein is not synthesized More difficult mutation to correct PTC codons Nonsense mutation Terminate translation early 10% of CF cases worldwide Read through agents Gene editing CRISPR/Cas9 Video 6 Co Production of Care Co production of healthcare services is defined as providers, patients and families working together to produce services Shared planning and execution Respectful interactions Effective listening and communication 10
11 Co Production of CF Healthcare Services Smartphone Application EXPECT DELAYS Many thanks to Cystic Fibrosis Foundation (cfforg) Sondra Rosendahl and the Minnesota Department of Health Children s CF Center Dr Anne Griffiths, Dr Brooke Moore, Dr John McNamara Renee Temme, GC Marisa Eastman, CRCCS Patients and families References CFForg Van Goor F et al Proc Natl Acad Sci USA 2009;106: Accurso FJ et al N Engl J Med 2010;363: Ramsey BW et al N Engl J Med 2011;365: Lahiri T, Hempstead SE, Brady C, et al Clinical Practice Guidelines from the Cystic Fibrosis Foundation for Preschoolers with Cystic Fibrosis Pediatrics 2016;137(4):e Mogayzel PJ, Naureckas ET, Robinson KA, Brady CJ, Guill M, Lahiri T, et al Cystic Fibrosis Foundation Pulmonary Guideline Pharmacologic Approaches to Prevention and Eradication of Initial Pseudomonas aeruginosa Infection Annals of the American Thoracic Society :10, Mogayzel,P J et al Brady, C J, Cystic Fibrosis Pulmonary Guidelines: Chronic Medications for Maintenance of Lung Health April 1, 2013, American Journal of Respiratory and Critical Care Medicine Journal Id : Blue OER1 Farrell et al, Guidelines for Diagnosis of Cystic Fibrosis in the Era of Newborn Screening J Pediatrics 153:S4, 2008 Waters et al, 1999 Accurrso et al, 2005 Balfour Lynn, IM, 2008 Collins, MS et al, Pediatric Pulmonology, 2008 Tluczek et al, 2006 Lee et al, 2003 Dillard and Tluckzek J Pediatrics 2005; 147;S94 S97 11
Pediatrics Grand Rounds 13 November University of Texas Health Science Center at San Antonio. Learning Objectives
Nationwide Newborn Screening for Cystic Fibrosis: Finally Creating an Opportunity for All Patients to Have Better Outcomes Philip M Farrell, MD, PhD* University of Wisconsin-Madison *No disclosures other
More informationCystic Fibrosis Foundation Patient Registry 2013
5/9/2015 Targeting CFTR to Treat Cystic Fibrosis: Small Molecule Therapy Mary Ellen Kleinhenz, MD Director, UCSF Adult Cystic Fibrosis Program Professor of Medicine UCSF Division of Pulmonary, Critical
More informationAn Effective Model to Communicate Complex Genetic Information to Families and Health Care Providers
An Effective Model to Communicate Complex Genetic Information to Families and Health Care Providers Theresa Steckel, RN, BSN Newborn Screening Quality Assurance and Education Coordinator Oklahoma State
More information"Management and Treatment of Patients with Cystic fibrosis (CF)
"Management and Treatment of Patients with Cystic fibrosis (CF) Dr. Malena Cohen-Cymberknoh Pediatric Pulmonology and CF Center Hadassah Hebrew-University Medical Center Jerusalem, Israel Afula, March
More informationThe Future of CF Therapy
The Future of CF Therapy Peter J. Mogayzel, Jr., M.D., Ph.D. Eudowood Division of Pediatric Respiratory Sciences The Johns Hopkins School of Medicine Overview The Future of CF Therapy Personalized therapy
More informationTransformational Treatments. PRESTON W. CAMPBELL, III, M.D. Executive Vice President for Medical Affairs
Transformational Treatments PRESTON W. CAMPBELL, III, M.D. Executive Vice President for Medical Affairs Symptom-based CF Therapies 45 Median Predicted Survival Age of US Patients with Cystic Fibrosis 41
More informationPediatrics Grand Rounds 18 Sept University of Texas Health Science Center. + Disclosure. + Learning Objectives.
Disclosure Dr Donna Willey Courand receives research support from Cystic Fibrosis Therapeutics The Cystic Fibrosis Foundation Children with Special Health Care Needs Cystic Fibrosis 05: Improving Survival
More informationMedical Policy An independent licensee of the Blue Cross Blue Shield Association
Cystic Fibrosis Transmembrane Page 1 of 13 Medical Policy An independent licensee of the Blue Cross Blue Shield Association Title: Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Prime Therapeutics
More informationMedical Policy An independent licensee of the Blue Cross Blue Shield Association
Cystic Fibrosis Transmembrane Page 1 of 11 Medical Policy An independent licensee of the Blue Cross Blue Shield Association Title: Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Prime Therapeutics
More informationWhat is Cystic Fibrosis? CYSTIC FIBROSIS. Genetics of CF
What is Cystic Fibrosis? CYSTIC FIBROSIS Lynne M. Quittell, M.D. Director, CF Center Columbia University Chronic, progressive and life limiting autosomal recessive genetic disease characterized by chronic
More informationCystic Fibrosis. Parkland College. Monica Rahman Parkland College. Recommended Citation
Parkland College A with Honors Projects Honors Program 2013 Cystic Fibrosis Monica Rahman Parkland College Recommended Citation Rahman, Monica, "Cystic Fibrosis" (2013). A with Honors Projects. 98. http://spark.parkland.edu/ah/98
More informationCystic Fibrosis as it relates to the neonate MARIANNE MUHLEBACH, MD PROFESSOR, DEPT. PEDIATRICS UNC CHAPEL HILL
Cystic Fibrosis as it relates to the neonate MARIANNE MUHLEBACH, MD PROFESSOR, DEPT. PEDIATRICS UNC CHAPEL HILL Objectives: At the end of the presentation the listeners will Be able to describe neonatal
More informationCystic Fibrosis. Information for Caregivers
Cystic Fibrosis Information for Caregivers Arkansas Children s Hospital is an accredited Cystic Fibrosis Care Center by the National Cystic Fibrosis Foundation Cystic Fibrosis: Information for Caregivers
More informationCystic Fibrosis. Cystic Fibrosis. Cystic Fibrosis 5/01/2011 CYSTIC FIBROSIS OF THE PANCREAS AND ITS RELATION TO CELIAC DISEASE. D ANDERSEN.
1938 OF THE PANCREAS AND ITS RELATION TO CELIAC DISEASE. D ANDERSEN. American Journal Diseases Children. : The beginning May 1938: 49 cases 25 20 15 Nos of cases 10 5 0 0.5 1 1.5 2 2.5 3 3.5 4 4.5 5 Age
More informationGoals Basic defect Pathophysiology Clinical i l signs and symptoms Therapy
CYSTIC FIBROSIS Lynne M. Quittell, M.D. Director, CF Center Columbia University Goals Basic defect Pathophysiology Clinical i l signs and symptoms Therapy What is Cystic Fibrosis? Chronic, progressive
More informationRespiratory Pharmacology: Treatment of Cystic Fibrosis
Respiratory Pharmacology: Treatment of Cystic Fibrosis Dr. Tillie-Louise Hackett Department of Anesthesiology, Pharmacology and Therapeutics University of British Columbia Associate Head, Centre of Heart
More informationEnabling CF Therapeutic Development
Enabling CF Therapeutic Development PRESTON W. CAMPBELL, III, M.D. Executive Vice President for Medical Affairs No Disclosures Cystic Fibrosis In 1955 In 1955 most children with CF did not live long enough
More informationCystic Fibrosis the future
Cystic Fibrosis the future Pathophysiologic cascade Abnormal Gene Abnormal CFTR Therapy Gene replacement Protein replacement Gene read through therapy Abnormal sodium chloride & water movement through
More informationCYSTIC FIBROSIS OBJECTIVES NO CONFLICT OF INTEREST TO DISCLOSE
CYSTIC FIBROSIS Madhu Pendurthi MD MPH Staff Physician, Mercy Hospital Springfield, MO NO CONFLICT OF INTEREST TO DISCLOSE OBJECTIVES Epidemiology of Cystic Fibrosis (CF) Genetic basis and pathophysiology
More informationCystic Fibrosis. Jennifer McDaniel, BS, RRT-NPS
Cystic Fibrosis Jennifer McDaniel, BS, RRT-NPS Overview Cystic fibrosis is the most common fatal, inherited disease in the U. S. CF results from a defective autosomal recessive gene One copy of gene =
More informationChanges in the management of children with Cystic Fibrosis. Caroline Murphy & Deirdre O Donovan CF Nurses
Changes in the management of children with Cystic Fibrosis Caroline Murphy & Deirdre O Donovan CF Nurses What Is Cystic Fibrosis? Cystic fibrosis (CF) is an inherited chronic disease that primarily affects
More informationCystic Fibrosis: Progress in Treatment Management. Patrick A. Flume, M.D. Medical University of South Carolina
Cystic Fibrosis: Progress in Treatment Management Patrick A. Flume, M.D. Medical University of South Carolina Disclosures Grant support Mpex Pharmaceuticals, Inc Gilead Sciences, Inc Bayer Healthcare AG
More informationDisclosures. Advances in the Management of Cystic Fibrosis: A Closer Look at the Roles of CFTR Modulation Therapy 10/28/2016
Advances in the Management of Cystic Fibrosis: A Closer Look at the Roles of CFTR Modulation Therapy Susanna A McColley, MD Associate Chief Research Officer Stanley Manne Children s Research Institute
More informationUNDERSTANDING CYSTIC FIBROSIS
UNDERSTANDING CYSTIC FIBROSIS INTRODUCTION Cystic fibrosis is a chronic disease that affects the respiratory and gastrointestinal systems. People with cystic fibrosis have a genetic defect of the lungs
More informationCF: Information for Case Managers. Cindy Capen MSN, RN Pediatric Pulmonary Division University of Florida
CF: Information for Case Managers Cindy Capen MSN, RN capencl@peds.ufl.edu Pediatric Pulmonary Division University of Florida About your speaker 25+ years in pulmonary Coordinator for CF Center and CF
More informationOral Cystic Fibrosis Modulators
Oral Cystic Fibrosis Modulators Goals: To ensure appropriate drug use and limit to patient populations in which they have demonstrated to be effective and safe. To monitor for clinical response for appropriate
More informationCase Study What is the Relationship Between the Cell Membrane and Cystic Fibrosis?
Names: Date: Case Study What is the Relationship Between the Cell Membrane and Cystic Fibrosis? Dr. Weyland examined a six month old infant that had been admitted to University Hospital earlier in the
More informationEvaluation of Patients with Diffuse Bronchiectasis
Evaluation of Patients with Diffuse Bronchiectasis Dr. Patricia Eshaghian, MD Assistant Clinical Professor of Medicine Director, UCLA Adult Cystic Fibrosis Affiliate Program UCLA Division of Pulmonary
More informationTEST INFORMATION Test: CarrierMap GEN (Genotyping) Panel: CarrierMap Expanded Diseases Tested: 311 Genes Tested: 299 Mutations Tested: 2647
Ordering Practice Jane Smith John Smith Practice Code: 675 Miller MD 374 Broadway New York, NY 10000 Physician: Dr. Frank Miller Report Generated: 2016-02-03 DOB: 1973-02-19 Gender: Female Ethnicity: European
More informationThe Cystic Fibrosis Gene. about. CF is one of the most common genetic diseases that cause death in both children and
Gill1 Peter Gill Malory Klocke Research Paper 02 August, 2011 The Cystic Fibrosis Gene Cystic fibrosis, better known as CF, is a genetic disease most people know very little about. CF is one of the most
More informationRhianna Cenci, Sodexo Dietetic Intern
Rhianna Cenci, Sodexo Dietetic Intern Objectives Overview of CF and Treatments CF Medical Nutrition Therapy CF Case Study Cystic Fibrosis (CF) Overview Inherited chronic disease Produces unusually thick
More informationPATIENT EDUCATION. Cystic Fibrosis Carrier Testing
PATIENT EDUCATION Cystic Fibrosis Carrier Testing Introduction Cystic fibrosis carrier testing before or during pregnancy can help determine your risk of having a child with cystic fibrosis. This information
More informationA Case of Cystic Fibrosis
Name(s) Date A Case of Cystic Fibrosis Dr. Weyland examined a six month old infant that had been admitted to University Hospital earlier in the day. The baby's parents had brought young Zoey to the emergency
More informationCystic Fibrosis Carrier Testing
PATIENT EDUCATION Cystic Fibrosis Carrier Testing Introduction Cystic fibrosis carrier testing before or during pregnancy can help determine your risk of having a child with cystic fibrosis. This information
More informationA Quick Guide to the. I507del. Mutation CFTR SCIENCE
A Quick Guide to the I507del Mutation CFTR SCIENCE 2016 Vertex Pharmaceuticals Incorporated VXR-HQ-02-00045a(1) 03/2016 Loss of CFTR activity is the underlying cause of cystic fibrosis (CF) 1 Spectrum
More informationWhat is the inheritance pattern (e.g., autosomal, sex-linked, dominant, recessive, etc.)?
Module I: Introduction to the disease Give a brief introduction to the disease, considering the following: the symptoms that define the syndrome, the range of phenotypes exhibited by individuals with the
More informationTHE ROLE OF CFTR MUTATIONS IN CAUSING CYSTIC FIBROSIS (CF)
THE ROLE OF CFTR MUTATIONS IN CAUSING CYSTIC FIBROSIS (CF) Vertex Pharmaceuticals Incorporated, 50 Northern Avenue, Boston, MA 02210. Vertex and the Vertex triangle logo are registered trademarks for Vertex
More informationPA Update: Oral Cystic Fibrosis Modulators
Copyright 2012 Oregon State University. All Rights Reserved Drug Use Research & Management Program Oregon State University, 500 Summer Street NE, E35 Salem, Oregon 97301-1079 Phone 503-947-5220 Fax 503-947-1119
More informationAt-A-Glance report 2014
At-A-Glance report 14 Cystic Fibrosis in Europe Facts and Figures 14 The European Cystic Fibrosis Society Patient Registry (ECFSPR) is happy to present this report with key information about how cystic
More informationAt-A-Glance report 2013
At-A-Glance report 213 Cystic Fibrosis in Europe Facts and Figures 213 The European Cystic Fibrosis Society Patient Registry (ECFSPR) is happy to present this report with key information about how cystic
More informationYou Can Observe a Lot By Just Watching. Wayne J. Morgan, MD, CM
You Can Observe a Lot By Just Watching Wayne J. Morgan, MD, CM Disclosures Genentech Epidemiological Study of Cystic Fibrosis, Scientific Advisory Group CF Foundation Data Safety Monitoring Board Registry/Comparative
More informationNavigating the Hills and Valleys of CF Lung Disease: Treating Disease
This Web cast has 2 parts: Part 1 Keeping Lungs Healthy Part 2 Treating Disease Navigating the Hills and Valleys of CF Lung Disease: Treating Disease This Web cast is supported by an unrestricted educational
More informationCystic Fibrosis. Presented by: Chris Belanger & Dylan Medd
Cystic Fibrosis Presented by: Chris Belanger & Dylan Medd Outline What is Cystic Fibrosis? Signs, Symptoms & Diagnosis Who does it effect? General effects on daily life Managing Cystic Fibrosis Exercise
More informationPharmacogenomics in Rare Diseases: Development Strategy for Ivacaftor as a Therapy for Cystic Fibrosis
Pharmacogenomics in Rare Diseases: Development Strategy for Ivacaftor as a Therapy for Cystic Fibrosis Federico Goodsaid Vice President Strategic Regulatory Intelligence Vertex Pharmaceuticals Is there
More informationFACTS ABOUT. Cystic Fibrosis. What Is Cystic Fibrosis. What Are the Signs and Symptoms of CF?
FACTS ABOUT Cystic Fibrosis What Is Cystic Fibrosis Cystic fibrosis (CF) is a chronic, progressive, and frequently fatal genetic (inherited) disease of the body s mucus glands. CF primarily affects the
More informationPalliative and Supportive Care in Cystic Fibrosis
Palliative and Supportive Care in Cystic Fibrosis Dr William Flight Consultant in Respiratory Medicine Oxford Adult Cystic Fibrosis Centre 27 th January 2017 Overview 1. Cystic Fibrosis Clinical Aspects
More informationKalydeco. Kalydeco (ivacaftor) Description
Federal Employee Program 1310 G Street, N.W. Washington, D.C. 20005 202.942.1000 Fax 202.942.1125 5.45.03 Subject: Kalydeco Page: 1 of 6 Last Review Date: November 30, 2018 Kalydeco Description Kalydeco
More informationCystic Fibrosis in Canada
Cystic Fibrosis Canada Cystic Fibrosis in Canada What is cystic fibrosis? Cystic fibrosis (CF) is the most common fatal genetic disease affecting Canadian children and young adults. There is no cure. Cystic
More informationClinical Commissioning Policy: Ivacaftor for Cystic Fibrosis (named mutations)
Clinical Commissioning Policy: Ivacaftor for Cystic Fibrosis (named mutations) Reference: NHS England: A01/P/c NHS England INFORMATION READER BOX Directorate Medical Commissioning Operations Patients and
More informationA review of Cystic Fibrosis
A review of Cystic Fibrosis Jennifer Landry md F.R.C.P.(C) Pulmonary & Critical Care Medicine McGill University Health Center Cystic Fibrosis One of the most common lethal inherited AR disorders in the
More informationHOW DISEASE ALTERING THERAPY IS CHANGING THE GOALS OF TREATMENT IN CF
HOW DISEASE ALTERING THERAPY IS CHANGING THE GOALS OF TREATMENT IN CF Peter D. Sly MBBS, MD, FRACP, DSc OUTLINE Goals of CF treatment Drivers of early disease neutrophilic inflammation oxidative stress
More informationDrug Use Criteria: Ivacaftor (Kalydeco ) and Lumacaftor/Ivacaftor (Orkambi )
Texas Vendor Program Use Criteria: (Kalydeco ) and Lumacaftor/ (Orkambi ) Publication History Developed: October 2012 Revised: December 2017; February 2016; June 2014. Notes: Information on indications
More informationA Genetic Approach to the Treatment of Cystic Fibrosis
A Genetic Approach to the Treatment of Cystic Fibrosis Peter Mueller, PhD Chief Scientific Officer and Executive Vice President Global Research and Development Vertex Pharmaceuticals, Incorporated March
More informationNational Horizon Scanning Centre. Mannitol dry powder for inhalation (Bronchitol) for cystic fibrosis. April 2008
Mannitol dry powder for inhalation (Bronchitol) for cystic fibrosis April 2008 This technology summary is based on information available at the time of research and a limited literature search. It is not
More informationCystic Fibrosis Care at the University of Florida
Cystic Fibrosis Care at the University of Florida Objectives To introduce you to the University of Florida CF Center To review center specific data for the UF pediatric CF Center To review current status
More informationE-BOOK # PANCREATIC ENZYMES FOR CYSTIC FIBROSIS ARCHIVE
10 June, 2018 E-BOOK # PANCREATIC ENZYMES FOR CYSTIC FIBROSIS ARCHIVE Document Filetype: PDF 220.67 KB 0 E-BOOK # PANCREATIC ENZYMES FOR CYSTIC FIBROSIS ARCHIVE If you have a systemic illness like lupus
More informationFocus on Cystic Fibrosis. Cystic Fibrosis. Cystic Fibrosis
Focus on (Relates to Chapter 29, Nursing Management: Obstructive Pulmonary Diseases, in the textbook) Copyright 2011, 2007 by Mosby, Inc., an affiliate of Elsevier Inc. Autosomal recessive, multisystem
More informationTIMELINESS IN NEWBORN SCREENING: CONSIDERATIONS FOR CYSTIC FIBROSIS
TIMELINESS IN NEWBORN SCREENING: CONSIDERATIONS FOR CYSTIC FIBROSIS Susanna A. McColley, MD Northwestern University Feinberg School of Medicine Ann & Robert H. Lurie Children s Hospital of Chicago Stanley
More informationCaregiver burden and quality of life of parents of young children with cystic fibrosis
Caregiver burden and quality of life of parents of young children with cystic fibrosis Professor Patricia Fitzpatrick 1 S George 1, R Somerville 1, B Linnane 2, C Fitzgerald 1 1 UCD School of Public Health,
More informationCystic Fibrosis New Patient Binder Cystic Fibrosis Center Pediatric Pulmonary Division
An annotated table-of-contents for the Cystic Fibrosis New Patient Binder Pediatric Pulmonary Division Introduction This booklet is a summary of the key points in the detailed and comprehensive information
More informationEvening Case studies, Tuesday April 30, Vijay L. Grey McMaster University
Evening Case studies, Tuesday April 30, 2013 Vijay L. Grey McMaster University Case 1 Gus Diaz was born to a 28-year-old gravida I mom who had evidence of gestational diabetes. It was managed with attention
More informationabstract SPECIAL ARTICLE
Clinical Practice Guidelines From the Cystic Fibrosis Foundation for Preschoolers With Cystic Fibrosis Thomas Lahiri, MD, a Sarah E. Hempstead, MS, b, c Cynthia Brady, DNP, d Carolyn L. Cannon, MD, PhD,
More informationBriefing Document. FDA Pulmonary - Allergy Drugs Advisory Committee
FDA Advisory Committee Briefing Materials Page 1 of 157 Briefing Document FDA Pulmonary - Allergy Drugs Advisory Committee Ivacaftor for the Treatment of Cystic Fibrosis in Patients Age 6 Years and Older
More informationFOR GENERAL PRACTITIONERS
INFORMATION PACK FOR GENERAL PRACTITIONERS Presented by 2 CONTENTS Chapter Page No 1. What is Cystic Fibrosis (CF)?... 5 Definition Symptoms The Digestive System Signs & Symptoms Breast Feeding & Cystic
More informationCystic fibrosis: From childhood to adulthood. Eitan Kerem Department of Pediatrics and CF Center Hadassah University Hospital Jerusalem Israel
Cystic fibrosis: From childhood to adulthood Eitan Kerem Department of Pediatrics and CF Center Hadassah University Hospital Jerusalem Israel Vas deference H 2 O Cl - Na + H 2 O Na + Cl - Cl - Cl -
More informationCystic fibrosis: hitting the target
Cystic fibrosis: hitting the target Heartland Collaborative Annual Meeting Friday, October 5, 2012 Thomas Ferkol MD 1938 1953 Cystic fibrosis: a historical timeline Cystic fibrosis (CF) of the pancreas
More informationCYSTIC FIBROSIS. The condition:
CYSTIC FIBROSIS Both antenatal and neonatal screening for CF have been considered. Antenatal screening aims to identify fetuses affected by CF so that parents can be offered an informed choice as to whether
More informationCaring for a person with cystic fibrosis
Caring for a person with cystic fibrosis Item Type Article Authors McDonagh, Yvonne;Meagher, Catherine Publisher Green Cross Publishing Journal Nursing in General Practice Download date 01/09/2018 03:18:31
More informationChapter 3 The Role of Nutrition in CF Care
Chapter 3 The Role of Nutrition in CF Care S. King, N. Saxby & N. Sander Cystic fibrosis is the most common lethal autosomal recessive genetic condition affecting Caucasians 186,187. Over 3500 Australians
More informationEach person has a unique set of characteristics, such as eye colour, height and blood group.
1 of 51 2 of 51 What is inheritance? 3 of 51 Each person has a unique set of characteristics, such as eye colour, height and blood group. A person s characteristics are determined by a combination of the
More informationSupplementary appendix
Supplementary appendix This appendix formed part of the original submission and has been peer reviewed. We post it as supplied by the authors. Supplement to: Moss RB, Flume PA, Elborn JS, et al, on behalf
More informationCystic Fibrosis Update
Cystic Fibrosis Update More than Decades of Discovery Dr. Raj Padman Professor of Pediatric TJU Board certified in Pediatrics, Pulmonology, and Sleep Medicine Dupont, Kosciusko Community, Lutheran, Rehabilitation,
More informationPharmacy Policy Bulletin
Pharmacy Policy Bulletin Title: Policy #: Cystic Fibrosis Agents (Kalydeco, Orkambi ) Rx.01.117 Application of pharmacy policy is determined by benefits and contracts. Benefits may vary based on product
More informationCF: Understanding the Biology Curing the Disease
CF: Understanding the Biology Curing the Disease Scott H. Donaldson, MD Associate Professor of Medicine Director, Adult CF Care Center University of North Carolina at Chapel Hill Defining the path Drilling
More informationCystic Fibrosis Panel Applications (Dornase Alfa) Contents
Cystic Fibrosis Panel Applications (Dornase Alfa) Contents Page 2-4: Entry and Stopping Criteria for Treatment with Dornase Alfa Page 5-9: Application and consent forms for a one month trail and long term
More informationCystic Fibrosis Diagnosis and Treatment
Cystic Fibrosis Diagnosis and Treatment Financial Disclosures Personal financial relationships with commercial interests relevant to medicine, within the past 3 years: NJH site PI for AstraZeneca. As faculty
More informationIVACAFTOR THE ISRAELI EXPERIENCE ADI DAGAN MD THE ISRAELI CF CENTER SHEBA MEDICAL CENTER, TEL-HASHOMER
IVACAFTOR THE ISRAELI EXPERIENCE ADI DAGAN MD THE ISRAELI CF CENTER SHEBA MEDICAL CENTER, TEL-HASHOMER February 21, 2014 U.S. Food and Drug Administration Approves KALYDECO (ivacaftor) for Use in Eight
More informationSymdeko. Symdeko (tezacaftor and ivacaftor) Description
Federal Employee Program 1310 G Street, N.W. Washington, D.C. 20005 202.942.1000 Fax 202.942.1125 5.45.10 Subject: Symdeko Page: 1 of 5 Last Review Date: June 22, 2018 Symdeko Description Symdeko (tezacaftor
More informationOrkambi. Orkambi (lumacaftor/ivacaftor) Description
Federal Employee Program 1310 G Street, N.W. Washington, D.C. 20005 202.942.1000 Fax 202.942.1125 5.45.06 Subject: Orkambi Page: 1 of 6 Last Review Date: November 30, 2018 Orkambi Description Orkambi (lumacaftor/ivacaftor)
More informationB1 Question 1 Foundation
B1 Question 1 Foundation The nucleus controls the activities of a cell. The instructions for how an organism develops i.e. the genes are found in the nuclei of its cells B1 Question 2 Foundation The genes
More informationCystic Fibrosis Complications ANDRES ZIRLINGER, MD STANFORD UNIVERSITY MEDICAL CENTER MARCH 3, 2012
Cystic Fibrosis Complications ANDRES ZIRLINGER, MD STANFORD UNIVERSITY MEDICAL CENTER MARCH 3, 2012 INTRODUCTION PNEUMOTHORAX HEMOPTYSIS RESPIRATORY FAILURE Cystic Fibrosis Autosomal Recessive Genetically
More informationREGISTRY ANNUAL DATA REPORT
216 PAT I E N T REGISTRY ANNUAL DATA REPORT MISSION OF THE CYSTIC FIBROSIS FOUNDATION The mission of the Cystic Fibrosis Foundation is to cure cystic fibrosis and to provide all people with the disease
More informationPULMONARY SURFACTANT, ALPHA 1 ANTITRYPSIN INHIBITOR DEFICIENCY, AND CYSTIC FIBROSIS DR. NABIL BASHIR BIOCHEMISTRY/RESPIRATORY SYSTEM
PULMONARY SURFACTANT, ALPHA 1 ANTITRYPSIN INHIBITOR DEFICIENCY, AND CYSTIC FIBROSIS DR. NABIL BASHIR BIOCHEMISTRY/RESPIRATORY SYSTEM Pulmonary surfactant Pulmonary surfactant is (phospholipoprotein) complex
More informationHistory of Review and Revision Dates Revised Approved Effective History/Summary of Revisions
U n i t e d H e a l t h C a r e G u i d e l i n e Division UnitedHealthcare Departments Community Plan Products Children s Rehabilitative Services State :Arizona Title: CRS Cystic Fibrosis Clinical Practice
More informationApplication to be an additional provider for existing test on the NHS Directory of Molecular Genetic Testing Additional Provider form
Application to be an additional provider for existing test on the NHS Directory of Molecular Genetic Testing Additional Provider form Disease: Gene: Cystic Fibrosis (CF) (carrier testing in reproductive
More informationClass Update: Oral Cystic Fibrosis Modulators
Copyright 2012 Oregon State University. All Rights Reserved Drug Use Research & Management Program Oregon State University, 500 Summer Street NE, E35 Salem, Oregon 97301-1079 Phone 503-947-5220 Fax 503-947-1119
More informationCYSTIC FIBROSIS FOUNDATION INFO-POD Information You Need to Make Benefits Decisions
CYSTIC FIBROSIS FOUNDATION INFO-POD Information You Need to Make Benefits Decisions Issue 1: Hypertonic Saline Summary: Preserving lung function is a crucial element in the care of the individual with
More informationAttachment 1. Newborn Screening Program Description
Attachment 1 Newborn Screening Program Description The core mission of Texas Newborn Screening Program is to save children s lives through the early detection of life-threatening disorders. 34 Newborn
More informationClinical Commissioning Policy: Levofloxacin nebuliser solution for chronic Pseudomonas lung infection in cystic fibrosis (all ages)
Clinical Commissioning Policy: Levofloxacin nebuliser solution for chronic Pseudomonas lung infection in cystic fibrosis (all ages) NHS England Reference: 1732P NHS England INFORMATION READER BOX Directorate
More informationCystic Fibrosis Foundation Patient Registry Annual Data Report 2006
Cystic Fibrosis Foundation Patient Registry Annual Data Report 2006 Suggested citation: Cystic Fibrosis Foundation, Patient Registry 2006 Annual Report, Bethesda, Maryland. 2008 Cystic Fibrosis Foundation
More informationOverview of Cystic fibrosis in children. Apeksha Sathyaprasad, MD Pediatric pulmonologist
Overview of Cystic fibrosis in children Apeksha Sathyaprasad, MD Pediatric pulmonologist No conflicts of interest OBJECTIVES Review pathophysiology of pulmonary disease in cystic fibrosis Review diagnostic
More information6.2.1 Exocrine pancreatic insufficiency
6.2.1 Exocrine pancreatic insufficiency Authors: Jean Louis Frossard, Alain Sauty 1. INTRODUCTION Exocrine pancreatic insufficiency is a biological and clinical condition that is characterized by a progressive
More informationSupplementary appendix
Supplementary appendix This appendix formed part of the original submission and has been peer reviewed. We post it as supplied by the authors. Supplement to: Wells JM, Farris RF, Gosdin TA, et al. Pulmonary
More informationTRANSPARENCY COMMITTEE
The legally binding text is the original French version TRANSPARENCY COMMITTEE Opinion 5 November 2014 KALYDECO 150 mg, film-coated tablet B/56 (CIP: 34009 266 060 5 3) Applicant: VERTEX INN ATC code Reason
More informationGene Sequencing in Newborn Screening: Covering the Bases of Education and Follow-Up. Amy Gaviglio, MS, CGC February 17, 2017
Gene Sequencing in Newborn Screening: Covering the Bases of Education and Follow-Up Amy Gaviglio, MS, CGC February 17, 2017 Outline Education Personnel Case Examples Considerations EDUCATION: OUR BASELINE
More informationScottish Paediatric Cystic Fibrosis MCN. Protocols / Guidelines. Ivacaftor: A guideline for use in paediatric CF patients in Scotland
Scottish Paediatric Cystic Fibrosis MCN Protocols / Guidelines Ivacaftor: A guideline for use in paediatric CF patients in Scotland Authors: Dr Carol Dryden Dr Jane Wilkinson Miss Julie Crocker, Registered
More informationOPAT FOR INFECTION IN BRONCHIECTASIS
OPAT FOR INFECTION IN BRONCHIECTASIS AN AUDIT EVALUATING THE USAGE OF OUTPATIENT ANTIBIOTIC THERAPY FOR INFECTIVE EXACERBATIONS OF BRONCHIECTASIS AGAINST CURRENT BRITISH THORACIC SOCIETY GUIDELINES Dr
More informationCYSTIC FIBROSIS CANADA S CF PHYSICIAN PANEL ON LUMACAFTOR/IVACAFTOR: RECOMMENDATIONS FOR CRITERIA FOR CLINICAL USE
CYSTIC FIBROSIS CANADA S CF PHYSICIAN PANEL ON LUMACAFTOR/IVACAFTOR: RECOMMENDATIONS FOR CRITERIA FOR CLINICAL USE I - INTRODUCTION a) Cystic Fibrosis Cystic fibrosis (CF) is the most common fatal genetic
More informationHistory of Screening for CF and CH in New Zealand. Dianne Webster Diane Casey Kathy Bendikson Richard MacKay Paul Hofman
History of Screening for CF and CH in New Zealand Dianne Webster Diane Casey Kathy Bendikson Richard MacKay Paul Hofman New Zealand Country is small 268680 km 2 Population 4.4M Maori 15% Pacific 7% Asian
More informationEarly Pseudomonas Infection Control (EPIC) Clinical Study. Overview for Families
Early Pseudomonas Infection Control (EPIC) Clinical Study Overview for Families What is the EPIC Clinical Study? The EPIC Clinical Study Compares different treatments for children with CF who have just
More information