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Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia

NCT01482494 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2011-12-01

No results posted yet for this study

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 breath and diaphragm weakness which herald progressive proximal muscle weakness. The heart and liver are not affected.

Serum CK (Creatine Kinase) activity is 2 to 10 times higher than normal. EMG (electromyogram) testing usually reveals a myopathic pattern and muscle biopsy may show vacuoles containing an accumulation of glycogen that is not broken down.

Until fairly recently, an assay of acid maltase activity using cultured fibroblasts after biopsy of skin or muscle tissue was required for diagnosis, as leukocytes contain a renal isoenzyme that is not absent in these patients and which can mask the deficit and result in false negatives. In recent years this problem has ben solved by the introduction of acarbose, an inhibitor of renal α-glucosidase; it is also used in the dried blood spot method, which measures acid maltase activity using maltose and acarbose as inhibitors and 4-methylumbelliferyl-D-glucopyranoside as substrate.

Conditions

  • Pompe Disease

Sponsors & Collaborators

  • Hospital Vall d'Hebron

    collaborator OTHER

  • Jordi Perez Lopez

    lead OTHER

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2011-12-31
Primary Completion
2012-12-31

Countries

  • Spain

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01482494 on ClinicalTrials.gov