DEPIPOMP1: Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth
Sponsor
Centre Hospitalier de Cayenne (Other)
Overall Status
Completed
CT.gov ID
NCT02904395
Collaborator
(none)
3,413
16
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Study Design
Study Type:
Observational
Actual Enrollment
:
3413 participants
Time Perspective:
Cross-Sectional
Official Title:
Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth
Study Start Date
:
Apr 1, 2014
Actual Primary Completion Date
:
Apr 1, 2014
Actual Study Completion Date
:
Aug 1, 2015
Outcome Measures
Primary Outcome Measures
- 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.
- 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.
Eligibility Criteria
Criteria
Ages Eligible for Study:
N/A
to 2 Days
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
Inclusion Criteria:
- newborn
Exclusion Criteria:
- parent refusal
Contacts and Locations
Locations
No locations specified.Sponsors and Collaborators
- Centre Hospitalier de Cayenne
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.Responsible Party:
Centre Hospitalier de Cayenne
ClinicalTrials.gov Identifier:
NCT02904395
Other Study ID Numbers:
- DEPIPOMP1
First Posted:
Sep 19, 2016
Last Update Posted:
Sep 19, 2016
Last Verified:
Sep 1, 2016
Individual Participant Data (IPD) Sharing Statement:
No
Plan to Share IPD:
No
Additional relevant MeSH terms: