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

Centre Hospitalier de Cayenne3,413 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

3,413

Conditions

Pompe's Disease

Interventions

observational (no intervention)OTHER

Eligibility

Sex: ALLMax age: 2 Days

Medical Language ↔ Plain English

Inclusion Criteria: * newborn Exclusion Criteria: * parent refusal

Outcomes

Primary Outcomes

acid maltase activity

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

Time frame: 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.

Time frame: At birth

Data from ClinicalTrials.gov

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