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Trial record 18 of 103 for:    Pompe Disease

Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth (DEPIPOMP1)

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ClinicalTrials.gov Identifier: NCT02904395
Recruitment Status : Completed
First Posted : September 19, 2016
Last Update Posted : September 19, 2016
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier de Cayenne

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.

Condition or disease Intervention/treatment
Pompe's Disease Other: observational (no intervention)

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Study Type : Observational
Actual Enrollment : 3413 participants
Time Perspective: Cross-Sectional
Official Title: Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth
Study Start Date : April 2014
Actual Primary Completion Date : April 2014
Actual Study Completion Date : August 2015





Primary Outcome Measures :
  1. 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.

  2. 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.


Biospecimen Retention:   Samples With DNA
filter paper with blood to look for enzyme activity and if enzyme activity low, PCR looking for the signature mutations for infantile Pompe's Disease


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Ages Eligible for Study:   up to 2 Days   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
newborns
Criteria

Inclusion Criteria:

  • newborn

Exclusion Criteria:

  • parent refusal

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Responsible Party: Centre Hospitalier de Cayenne
ClinicalTrials.gov Identifier: NCT02904395     History of Changes
Other Study ID Numbers: DEPIPOMP1
First Posted: September 19, 2016    Key Record Dates
Last Update Posted: September 19, 2016
Last Verified: September 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Glycogen Storage Disease
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors