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

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

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

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.

Detailed Summary:
Sponsor: Centre Hospitalier de Cayenne

Current Primary Outcome:

• 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.

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Centre Hospitalier de Cayenne

Dates:
Date Received: September 6, 2016
Date Started: April 2014
Date Completion:
Last Updated: September 13, 2016
Last Verified: September 2016