Prevalence of Heterozygote Mothers for Pompe's Disease Among Mothers Having Delivered in French Guiana — DEPIPOMP2

Pompe's Disease Clinical Trial

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

Status Completed

Clinical Trial 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.

Clinical Trial Description

n/a

Study Design

Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT02903654
Study type	Observational
Source	Centre Hospitalier de Cayenne
Contact
Status	Completed
Phase	N/A
Start date	April 2014
Completion date	July 2015

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See also
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Completed	`NCT02904395` - Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth	N/A