Developing a Management Approach for Patients With Late-Onset Pompe Disease GAA Variant Identified by Newborn Screening

Status: Active, not recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational

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: 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) 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. To determine criteria to start preventative therapies including enzyme replacement therapy (ERT) in patients with clinical features of Pompe disease identified via NBS 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

Participation Requirements
Sex: All
Minimum Age: 3 months
Maximum Age: 4
Healthy Volunteers: No

• 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.

United States
North Carolina
Duke University
Time Frame
Start Date: March 25, 2019
Estimated Completion Date: August 31, 2024
Target number of participants: 20
Late-Onset Pompe disease
Individuals with a confirmed diagnosis of Late-Onset Pompe disease via NBS
Priya Kishnani, Stephanie Dearmey
Related Therapeutic Areas
Collaborators: Genzyme, a Sanofi Company
Leads: Duke University

This content was sourced from

Similar Clinical Trials