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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02903654
Recruitment Status : Completed
First Posted : September 16, 2016
Last Update Posted : September 16, 2016
Information provided by (Responsible Party):
Centre Hospitalier de Cayenne

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.

Condition or disease Intervention/treatment
Pompe's Disease Other: observational

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Study Type : Observational
Actual Enrollment : 925 participants
Time Perspective: Cross-Sectional
Official Title: Prevalence of Heterozygote Mothers for Pompe's Disease Among Mothers Having Delivered in French Guiana
Study Start Date : April 2014
Actual Primary Completion Date : May 2014
Actual Study Completion Date : July 2015

Primary Outcome Measures :
  1. 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

Biospecimen Retention:   Samples With DNA
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Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
women having delivered in French Guiana whose child was enrolled in the depipomp1 study

Inclusion Criteria:

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

Exclusion Criteria:

  • refusal to participate
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Responsible Party: Centre Hospitalier de Cayenne Identifier: NCT02903654    
Other Study ID Numbers: DEPIPOMP2
First Posted: September 16, 2016    Key Record Dates
Last Update Posted: September 16, 2016
Last Verified: September 2016
Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Glycogen Storage Disease
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors