NCT03694561Active, not recruiting
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease GAA Variant Identified by Newborn Screening
Source: ClinicalTrials.gov · Last updated 3 Sept 2026
Brief summary (registry, in English)
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
- Status (registry)
- Active, not recruiting
- Study type
- Observational
- Enrollment
- 20 (estimated)
- First submitted
- 1 Oct 2018
- Start date
- 25 Mar 2019
- Primary completion date
- 31 Aug 2027
- Lead sponsor
- Duke University
- Diseases
- Pompe disease
- NCT number
- NCT03694561
What you commit to
- Study type: Observational
- Planned participants: 20
- From 25 Mar 2019 to the primary completion date, 31 Aug 2027
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Who the study is looking for
- Subject has been diagnosed via newborn screening
- Subject has a confirmed and documented diagnosis of Pompe disease and absence of cardiac involvement
- Subject has predicted "late-onset" GAA variants such as c.-32-13T\>G, c.2188G\>T, c.1935C\>A, c.1726G\>A, c.118C\>T etc. in homozygosity or compound heterozygosity
- Subject must be between 3 and 20 months for infant study or between 24 and 54 months (+/- 3 months) for children study at time of enrollment.
Age in the registry: 3 months to 54 months · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Duke University Coordinator of this site? Confirm its status | Durham | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.