Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth (DEPIPOMP1)

September 13, 2016 updated by: Centre Hospitalier de Cayenne

Given the 100 fold increase of the incidence of Pompe's disease in Western French Guiana, the objective of the present study is to implement systematic screening in newborns in French Guiana in order to start treatment before the muscular and cardiac symptoms appear.

Study Overview

Status

Completed

Conditions

Pompe's Disease

Intervention / Treatment

Other: observational (no intervention)

Study Type

Observational

Enrollment (Actual)

3413

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

No older than 2 days (Child)

Accepts Healthy Volunteers

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

newborns

Description

Inclusion Criteria:

newborn

Exclusion Criteria:

parent refusal

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

Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
acid maltase activity Time Frame: At birth	The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations.	At birth
Signature mutation for pompe's disease Time Frame: At birth	The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations.	At 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)

April 1, 2014

Study Completion (Actual)

August 1, 2015

Study Registration Dates

First Submitted

September 6, 2016

First Submitted That Met QC Criteria

September 13, 2016

First Posted (Estimate)

September 19, 2016

Study Record Updates

Last Update Posted (Estimate)