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

September 13, 2016 updated by: Centre Hospitalier de Cayenne
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 Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

925

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

Female

Sampling Method

Non-Probability Sample

Study Population

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

Description

Inclusion Criteria:

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

Exclusion Criteria:

  • refusal to participate

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Within 3 days after birth

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier de Cayenne

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2014

Primary Completion (Actual)

May 1, 2014

Study Completion (Actual)

July 1, 2015

Study Registration Dates

First Submitted

September 6, 2016

First Submitted That Met QC Criteria

September 13, 2016

First Posted (Estimate)

September 16, 2016

Study Record Updates

Last Update Posted (Estimate)

September 16, 2016

Last Update Submitted That Met QC Criteria

September 13, 2016

Last Verified

September 1, 2016

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • DEPIPOMP2

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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