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

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.

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Key information

Conditions

Pompe's Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Sex eligibility

Female

Study type

Observational

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

refusal to participate

Treatment and study plan

Observational

Other

Primary outcomes

prevalence of p.Gly648Ser and p.Arg854X

Time frame: Within 3 days after birth

number of positive mutations divided by total number of women tested

Sponsors and collaborators

Lead sponsor

Centre Hospitalier de Cayenne

Other

Registry information

Acronym: DEPIPOMP2

Important dates

Study start: 2014
Primary completion: 2014
Study completion: 2015
First posted: Sep 16, 2016
Registry last updated: Sep 16, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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