NCT02904395

Brief Summary

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.

Trial Health

100
On Track

Trial Health Score

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

Enrollment
3,413

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
Same day until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 1, 2014

Completed
1.3 years until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2015

Completed
1.1 years until next milestone

First Submitted

Initial submission to the registry

September 6, 2016

Completed
13 days until next milestone

First Posted

Study publicly available on registry

September 19, 2016

Completed
Last Updated

September 19, 2016

Status Verified

September 1, 2016

Enrollment Period

Same day

First QC Date

September 6, 2016

Last Update Submit

September 13, 2016

Conditions

Pompe's Disease

Outcome Measures

Primary Outcomes (2)

  • acid maltase activity

    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

    The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations.

    At birth

Interventions

observational (no intervention)OTHER

Eligibility Criteria

AgeUp to 2 Days
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)
Sampling MethodNon-Probability Sample
Study Population

newborns

You may qualify if:

  • newborn

You may not qualify if:

  • parent refusal

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Biospecimen

Retention: SAMPLES WITH DNA

filter paper with blood to look for enzyme activity and if enzyme activity low, PCR looking for the signature mutations for infantile Pompe's Disease

MeSH Terms

Conditions

Glycogen Storage Disease Type II

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

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 19, 2016

Study Start

April 1, 2014

Primary Completion

April 1, 2014

Study Completion

August 1, 2015

Last Updated

September 19, 2016

Record last verified: 2016-09

Data Sharing

IPD Sharing
Will not share