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

Active Not RecruitingN/A

Sponsor: Duke University

Conditions: Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency

Interventions: Observational

Countries: United States

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

Eligibility overview

Sex: ALL

Age: 3 Months to 54 Months

Healthy volunteers: No

Study type: OBSERVATIONAL

Eligibility criteria

Inclusion Criteria:

* 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.

Locations (1)

Durham, North Carolina, United States