Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth

Completed

• Conditions: Pompe's Disease

• Registration Number: NCT02904395
• Lead Sponsor: Centre Hospitalier de Cayenne

Brief Summary

Given the 100 fold increase of the incidence of Pompe's disease in Western French Guiana, the objective of the present study is to implement systematic screening in newborns in French Guiana in order to start treatment before the muscular and cardiac symptoms appear.

Detailed Description

Not available

Study Timeline

• Study Start: 2014-04
• Primary Completion: 2014-04
• Study Completion: 2015-08
• Status Verified: 2016-09
• Study First Submitted: 2016-09-06
• Study First Submitted QC: 2016-09-13
• Last Update Submitted: 2016-09-13
• Study First Posted: 2016-09-19
• Last Update Posted: 2016-09-19

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 3413

Inclusion Criteria

• newborn

Exclusion Criteria

• parent refusal

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Signature mutation for pompe's disease	At birth	The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations.
acid maltase activity	At birth	The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations.