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

Pompe's Disease Clinical Trial

— DEPIPOMP2  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02903654
• Other study ID #: DEPIPOMP2
• Status: Completed
• Phase: N/A
• First received: September 6, 2016
• Last updated: September 13, 2016
• Start date: April 2014
• Est. completion date: July 2015

Study information

• Verified date: September 2016
• Source: Centre Hospitalier de Cayenne
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: 'Comité consultatif sur le traitement de l'information en matière de recherche dans le domaine de la santé'France: 'Commission nationale de l'informatique et des libertés'
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 925
• Est. completion date: July 2015
• Est. primary completion date: May 2014
• Accepts healthy volunteers: No
• Gender: Female
• Age group: N/A and older

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• refusal to participate

Study Design

Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Pompe's Disease

Intervention

Other:
• observational

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier de Cayenne

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	prevalence of p.Gly648Ser and p.Arg854X	number of positive mutations divided by total number of women tested	Within 3 days after birth	No