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

Pompe's Disease Clinical Trial

— DEPIPOMP1  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02904395
• Other study ID #: DEPIPOMP1
• Status: Completed
• Phase: N/A
• First received: September 6, 2016
• Last updated: September 13, 2016
• Start date: April 2014
• Est. completion date: August 2015

Study information

• Verified date: September 2016
• Source: Centre Hospitalier de Cayenne
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Commission nationale de l'informatique et des libertésFrance: Comité consultatif sur le traitement de l'information en matière de recherche dans le domaine de la santé
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 3413
• Est. completion date: August 2015
• Est. primary completion date: April 2014
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A to 2 Days

Eligibility

Inclusion Criteria:

• newborn

Exclusion Criteria:

• parent refusal

Study Design

Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Pompe's Disease

Intervention

Other:
• observational (no intervention)

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier de Cayenne

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	No
Primary	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	No