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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02903654

Acronym

DEPIPOMP2

Enrollment

925

Registered

2016-09-16

Start date

2014-04-30

Completion date

2015-07-31

Last updated

2016-09-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Pompe's Disease

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.

Interventions

OTHERobservational

Study design

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

FEMALE

Healthy volunteers

Inclusion criteria

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

Exclusion criteria

* refusal to participate

Design outcomes

Primary

Measure	Time frame	Description
prevalence of p.Gly648Ser and p.Arg854X	Within 3 days after birth	number of positive mutations divided by total number of women tested

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026