Status:
UNKNOWN
Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia
Lead Sponsor:
Jordi Perez Lopez
Collaborating Sponsors:
Hospital Vall d'Hebron
Conditions:
Pompe Disease
Eligibility:
All Genders
18+ years
Brief Summary
The adult onset form can occur between the second and sixth decades of life as a form of proximal myopathy, predominantly in the pelvic girdle area. Sometimes the first symptoms are shortness of breat...
Detailed Description
Lysosomal storage disorders are inborn errors of metabolism characterized by defects in lysosomal function. Lysosomes contain acid hydrolases whose function is to break down complex molecules in the c...
Eligibility Criteria
Inclusion
- Patients who go to an Internal Medicine clinic for examination of a limb-girdle myopathy.
- Patients with asymptomatic hyper-CK-emia. Patients with a prior diagnosis of polymyositis. Patients with a myopathy of uncertain origin and respiratory insufficiency. Patients with polymyositis unresponsive to steroid therapy
Exclusion
- Patients in treatment Patients with Pompe Disease
Key Trial Info
Start Date :
December 1 2011
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
Estimated Enrollment :
50 Patients enrolled
Trial Details
Trial ID
NCT01482494
Start Date
December 1 2011
Last Update
December 1 2011
Active Locations (1)
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1
Hospital Clínico de Barcelona
Barcelona, Barcelona, Spain