Clinical Trial: Prevalence of Heterozygote Mothers for Pompe's Disease Among Mothers Having Delivered in French Guiana

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Prevalence of Heterozygote Mothers for Pompe's Disease Among Mothers Having Delivered in French Guiana

Brief Summary: Given the high incidence of Pompe's Disease in French Guiana (100 times higher than in mainland France) the aim is to determine the prevalence of heterozygotes among women having just delivered in French Guiana who accepted that their newborn child enters the depipomp1 study. In these women the specific mutations p.Gly648Ser and p.Arg854X will be sought using PCR in order to calculate the prevalence of these mutations and estimate the risk factors associated with them in order to improve genetic counselling.

Detailed Summary:
Sponsor: Centre Hospitalier de Cayenne

Current Primary Outcome: prevalence of p.Gly648Ser and p.Arg854X [ Time Frame: Within 3 days after birth ]

number of positive mutations divided by total number of women tested


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Centre Hospitalier de Cayenne

Dates:
Date Received: September 6, 2016
Date Started: April 2014
Date Completion:
Last Updated: September 13, 2016
Last Verified: September 2016