Pompe disease high risk screening in Japa

Not Applicable

• Conditions: Pompe Disease

• Registration Number: JPRN-UMIN000017661
• Lead Sponsor: Muscular Dystrophy Clinical Trial Network

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2015-05-25
• Study Completion: 2018-08-31
• Last Update Posted: 17 October 2023

Recruitment & Eligibility

• Status: Complete: follow-up continuing
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

Not provided

Exclusion Criteria

No exclusion criteria in this study.

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
umber of patients who showed decreased GAA activity at secondary test with lymphocyte as well as homozygous mutation of GAA gene ("definitive diagnosis group").

Secondary Outcome Measures

Name	Time	Method
- Number of patients who did not show decreased GAA activity at secondary test with lymphocyte and/or homozygous mutation of GAA gene ("suspected diagnosis group"). - Difference of clinical information from "definitive diagnosis group", "suspected diagnosis group", and "exclusion group" that did not show decreased GAA activity at primary test.