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

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.

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Key information

Conditions

Pompe's Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

Up to 2 day

Sex eligibility

All sexes

Study type

Observational

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

newborn

Exclusion criteria

parent refusal

Treatment and study plan

observational (no intervention)

Other

Primary outcomes

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.
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.

Sponsors and collaborators

Lead sponsor

Centre Hospitalier de Cayenne

Other

Registry information

Acronym: DEPIPOMP1

Important dates

Study start: 2014
Primary completion: 2014
Study completion: 2015
First posted: Sep 19, 2016
Registry last updated: Sep 19, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed