NCT02903654

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.

Trial Health

100
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
925

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Apr 2014

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

April 1, 2014

Completed
1 month until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 1, 2014

Completed
1.2 years until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2015

Completed
1.2 years until next milestone

First Submitted

Initial submission to the registry

September 6, 2016

Completed
10 days until next milestone

First Posted

Study publicly available on registry

September 16, 2016

Completed
Last Updated

September 16, 2016

Status Verified

September 1, 2016

Enrollment Period

1 month

First QC Date

September 6, 2016

Last Update Submit

September 13, 2016

Conditions

Pompe's Disease

Outcome Measures

Primary Outcomes (1)

  • prevalence of p.Gly648Ser and p.Arg854X

    number of positive mutations divided by total number of women tested

    Within 3 days after birth

Interventions

observationalOTHER

Eligibility Criteria

Sexfemale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

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

You may not qualify if:

  • refusal to participate

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Biospecimen

Retention: SAMPLES WITH DNA

filter paper

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

Watchful Waiting

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGlycogen Storage DiseaseCarbohydrate Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Outcome Assessment, Health CareOutcome and Process Assessment, Health CareQuality of Health CareHealth Services Administration

Study Design

Study Type
observational
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 6, 2016

First Posted

September 16, 2016

Study Start

April 1, 2014

Primary Completion

May 1, 2014

Study Completion

July 1, 2015

Last Updated

September 16, 2016

Record last verified: 2016-09