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

NCT02903654 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 925

Last updated 2016-09-16

No results posted yet for this study

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.

Conditions

  • Pompe's Disease

Interventions

OTHER

observational

Sponsors & Collaborators

  • Centre Hospitalier de Cayenne

    lead OTHER

Eligibility

Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-04-30
Primary Completion
2014-05-31
Completion
2015-07-31

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02903654 on ClinicalTrials.gov