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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02904395

Acronym

DEPIPOMP1

Enrollment

3413

Registered

2016-09-19

Start date

2014-04-30

Completion date

2015-08-31

Last updated

2016-09-19

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Pompe's Disease

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.

Interventions

OTHERobservational (no intervention)

Study design

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

No minimum to 2 Days

Healthy volunteers

Inclusion criteria

* newborn

Exclusion criteria

* parent refusal

Design outcomes

Primary

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

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026