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

Centre Hospitalier de Cayenne925 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

925

Conditions

Pompe's Disease

Interventions

observationalOTHER

Eligibility

Sex: FEMALE

Medical Language ↔ Plain English

Inclusion Criteria: * women having delivered in French Guiana whose child was enroled in the depipomp1 study Exclusion Criteria: * refusal to participate

Outcomes

Primary Outcomes

prevalence of p.Gly648Ser and p.Arg854X

number of positive mutations divided by total number of women tested

Time frame: Within 3 days after birth

Data from ClinicalTrials.gov

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