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Developing a Management Approach for Patients With "Late-Onset" Pompe Disease

NCT03694561 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2025-09-22

No results posted yet for this study

Summary

This is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns, infants and children with Pompe disease without cardiomyopathy identified in newborn screening(NBS).

There will be baseline, months 6 and months 12 visits for infants and newborns (infants study). For children of ages 24 months to 54 months, there will be baseline, year 1 and year 2 visits (children study).

The study has four goals:

1. To study and record disease specific clinical symptoms in newborns, infants and children with Pompe disease without cardiomyopathy (disease of the heart muscle) in the first year of life identified through newborn screening (NBS)
2. To devise an approach to characterize early musculoskeletal (muscles and joints) involvement in subjects with the "late-onset" GAA variant identified by NBS including ability to collect research information via virtual health platforms.
3. To determine criteria to start preventative therapies including enzyme replacement therapy (ERT) in patients with clinical features of Pompe disease identified via NBS
4. To document parental coping and anxiety/emotional distress overtime using quality of life questionnaires after a child is diagnosed with late onset Pompe disease via NBS

Conditions

  • Pompe Disease
  • Pompe Disease (Late-onset)
  • GAA Deficiency

Interventions

OTHER

Observational

This study is a systematic investigation of the natural history of late-onset Pompe disease in infancy and childhood

Sponsors & Collaborators

  • Genzyme, a Sanofi Company

    collaborator INDUSTRY

  • Duke University

    lead OTHER

Principal Investigators

  • Priya Kishnani, MD · Duke University

Eligibility

Min Age
3 Months
Max Age
54 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-03-25
Primary Completion
2027-08-31
Completion
2027-08-31

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03694561 on ClinicalTrials.gov