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

Centre Hospitalier de Cayenne

Status: Completed

Conditions: Pompe's Disease

Treatments: Other: observational

Study type: Observational

Funder types: Other

Identifiers

NCT02903654

DEPIPOMP2

Details and patient eligibility

About

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.

Enrollment: 925 patients

Sex: Female

Volunteers: No Healthy Volunteers

Inclusion criteria

• women having delivered in French Guiana whose child was enroled in the depipomp1 study

Exclusion criteria

• refusal to participate