High Risk Screen of Childhood Late-onset Pompe Disease in Pediatric Outpatient Clinics

National Taiwan University

Status: Enrolling

Conditions: Pompe Disease

Study type: Observational

Funder types: Other

Identifiers

NCT04981210

202012243RIPC

Details and patient eligibility

About

Establish of high-risk screening criteria to earlier identify possible childhood LOPD for early treatment and better prognosis. Therefore, validation of the high-risk screening criteria for childhood LOPD will be critical for identifying children of LOPD in Taiwan.

Enrollment: 1,500 estimated patients

Sex: All

Ages: 1 to 18 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Children who are >1 year and < 18 year of age from pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH

Exclusion criteria

• Children who have been diagnosed as specific neuromuscular disorders.

Trial design

1,500 participants in 1 patient group

suspect LOPD