Prevalence of Heterozygote Mothers for Pompe's Disease Am... | NCT02903654

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

NCT02903654

Sponsor

Centre Hospitalier de Cayenne

Status

Completed

Last Update Posted

Sep 16, 2016Estimated

Enrollment

925Actual

Phase

Not provided

Conditions

Pompe's Disease

Interventions

observational

Countries

Not provided

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Sep 2016

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Apr 2014

Primary Completion Date

May 2014Actual

Completion Date

Jul 2015Actual

First Submitted Date

Sep 6, 2016

First Submission Date that Met QC Criteria

Sep 13, 2016

First Posted Date

Sep 16, 2016Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Sep 13, 2016

Last Update Posted Date

Sep 16, 2016Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

925Actual

Name	Type	Description	Arm Group Labels	Other Names
observational	Other

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
prevalence of p.Gly648Ser and p.Arg854X	number of positive mutations divided by total number of women tested	Within 3 days after birth

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

refusal to participate

Accepts Healthy Volunteers

Sex

Female

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Condition Browse Module

MeSH Terms

ID	Term
D006009	Glycogen Storage Disease Type II

Ancestor Terms

ID	Term
D020140	Lysosomal Storage Diseases, Nervous System
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic
D001927	Brain Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D057832	Watchful Waiting

Ancestor Terms

ID	Term
D017063	Outcome Assessment, Health Care
D010043	Outcome and Process Assessment, Health Care
D011787	Quality of Health Care
D006298	Health Services Administration

Browse Leaves

Not provided

Browse Branches

Not provided