Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis

Launched by CENTRE HOSPITALIER UNIVERSITAIRE DE NICE · Jan 27, 2009

Keywords

ClinConnect Summary

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.

Pompe disease is pan ethnic (but with increased prevalence in the afro-American and Chinese population). Pompe disease is rare with an estimated incidence of 1 in 40,000 births. In France so far, a hundred patients have been diagnosed. The difference of results between the epidemiologic studies published and the number of French patients diagnosed is caused by an under-diagnostic of this pathology,...

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 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 Criteria:
• • 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.