Long-Term Follow-Up Elements of Pompe Disease. Marci Sontag, PhD Amy Brower, PhD June 22, 2017

Transcription

1 Long-Term Follow-Up Elements of Pompe Disease Marci Sontag, PhD Amy Brower, PhD June 22, 2017

2 Presentation Outline Long-Term Follow-Up and Newborn Screening Key Efforts and Guidance Resources and Tools

3 Presentation Outline Long-Term Follow-Up and Newborn Screening Key Efforts and Guidance Resources and Tools

4 Long-Term Follow-Up in Newborn Screening Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential Lifelong treatment in most cases Long term care occurs in specialty clinics State based newborn screening programs have interest in outcomes and service utilization to improve their programs Prenatal Education Screening Diagnosis and Short-Term Follow-Up Clinical Care and Long-Term Follow-Up

5 Presentation Outline Long-Term Follow-Up and Newborn Screening Key Efforts and Guidance Resources and Tools

6 Key Efforts and Guidance 6

7 SACHDNC Statement on LTFU Assure the best possible outcome for individuals with disorders identified through newborn screening Key Features Central Components Quality chronic disease management Conditionspecific treatment Ageappropriate preventive care throughout the lifespan Care coordination through a medical home Evidence-based treatment Continuous quality improvement New knowledge discovery

8 Long-Term Follow-Up in the Public Health Context PEAS Long-Term Program Evaluation Nine Assessments ACHDNC Statement Overarching Questions Families Medical Home State/Nation National Quality Forum Newborn Screening Outcome Measure Hearing Screening Outcome Measures

9 Presentation Outline Long-Term Follow-Up and Newborn Screening Key Efforts and Guidance Resources and Tools

10 Resources and Tools NewSTEPs NBSTRN Case Definitions Short-Term Follow-Up State Profiles Implementation Efforts Informatics Infrastructure Pilot and Grantees Disease Specific and Candidate Conditions CDEs LSD Workgroup and Clinical Integration Group NCC Public Health Focus Leveraging the Regional Genetics Network Activities NCC/RC LTFU Data Workgroup - Minimum CDE Set Joint Committee RUSP Conditions Subject Matter Experts Across Newborn Screening Stakeholder Groups Applicable for Research and Public Health

11 SURVEILLANCE CASE DEFINITIONS Surveillance case definitions are intended to establish uniform criteria for disease reporting NOT intended for use as criteria for establishing clinical diagnoses determining the standard of care necessary for a particular patient setting guidelines for quality assurance providing standards for reimbursement initiating public health actions

12 CASE DEFINITIONS FOR NEWBORN SCREENING PUBLIC HEALTH SURVEILLANCE: POMPE DISEASE Pompe Disease (aka Acid Alpha-Glucosidase Deficiency) Category Definite, early-onset Pompe disease Definite, early-onset Pompe disease Definite, early-onset Pompe disease Definite, early-onset Pompe disease Definite, early-onset Pompe disease Definite, early-onset Pompe disease Definite, Pompe disease Definite, Pompe disease Definite, early-onset Pompe disease Definite, early-onset Pompe disease Mutation Status 2 disease-causing mutations or positive skin or muscle bx 2 disease-causing mutations or positive skin or muscle bx 2 disease-causing mutations or positive skin or muscle bx 2 disease-causing mutations or positive skin or muscle bx 2 disease-causing mutations or positive skin or muscle bx 2 disease-causing mutations or positive skin or muscle bx 2 disease-causing mutations or positive skin or muscle bx 2 disease-causing mutations or positive skin or muscle bx 1 disease-causing mutation* 1 disease-causing mutation* GAA Enzyme Activity Cardiac Involvement Clinical Symptoms/L ab Findings CRIM Status Low Yes Present Negative Low Yes Present Positive Low Yes Not present Negative Low Yes Not present Positive Low No Present Negative Low No Present Positive Low No Not present Negative Low No Not present Positive Low Yes Present Negative Low Yes Present Positive

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14 Public Health Minimum Data Set Diagnosis Condition Specific Care within the Past 12 Months Date or Age of Appropriate Intervention Alive or Deceased

15 Pompe Newborn Screening Pilots Quarterly Clinician Focused Call Monthly Webinars Discussion, Training, Information Sharing 3 NICHD Sponsored Pilot States 4 Screening States 1.3 M Screened (March 2017) PI State NBS Screening Technology Second Tier Diagnostic Number Screened to Date Results CLIR (Y/N) Algorithm (Y/N) LPDR (Y/N)

16 Participation in Monthly Pilot Call

17 Sharing Experience and Expertise Parent and Clinician Education Materials Newborn Screening Workflows Screening Algorithms Diagnostic Algorithms Screening Technologies

18 Acknowledgements NewSTEPs is supported by Cooperative Agreement #U22MC24078 from the Health Resources and Services Administration (HRSA) The NBSTRN is funded by #HHSN C, awarded as a contract between the Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health, and the American College of Medical Genetics and Genomics NBSTRN LSD Workgroup Co-Chairs - Priya Kishnani, MD and Melissa Wasserstein, MD Lori Wise, Barbara Burton, Michael Msall, Dieter Matern, Deekshea Bali, RonScott, Joe Orsini, Vamsee Pamula