Status:
COMPLETED
Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis
Lead Sponsor:
Centre Hospitalier Universitaire de Nice
Conditions:
Pompe's Disease
Eligibility:
All Genders
8+ years
Phase:
NA
Brief Summary
An international consensual group recommends confirming the diagnosis of the Pompe disease after a dried blood spot (DBS) with a dosage of the enzymatic activity in other tissue. This strategy is curr...
Detailed Description
In Pompe disease, deficiency of the enzyme acid alpha-glucosidase (GAA) results in accumulation of glycogen within the lyososomes of numerous tissues and cell types especially in muscular cells. Pomp...
Eligibility Criteria
Inclusion
- Age ≥ 8 years
- The patient and/or the patient's legal representative has given their informed consent in writing before any study procedure is initiated
- Patient with :
- Limb girdle muscle weakness or axial weakness And/Or Respiratory insufficiency,With unknown etiology
- Sporadic or familial case compatible with a autosomal recessive disorder
- Patient with muscular biopsy (and specific immunologic analyses) without diagnosis.
Exclusion
- Patient with a confirmed and documented diagnosis of an etiologic muscular disease determined by the histological analysis (described in appendix 6) that must have been performed on muscle biopsy.
- Patient familial background known with a X-link or a dominant transmission
- Patient who have had confirmation of a Pompe disease by biochemical analysis and/or by molecular biology
- Patient for whom an GAA enzymatic activity has already been performed and for which the result was normal.
Key Trial Info
Start Date :
January 1 2009
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
October 1 2011
Estimated Enrollment :
400 Patients enrolled
Trial Details
Trial ID
NCT00830583
Start Date
January 1 2009
End Date
October 1 2011
Last Update
December 8 2011
Active Locations (1)
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1
Claude Desnuelle
Nice, France