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

NCT01482494 | Unknown

• 1 other identifier: GZ-2011-10784
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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 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

Keywords

Myopathies; Pompe disease; Polymyositis; Respiratory Insufficiency

Study Arms (1)

Pompe suspected patients

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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Prospectively, patients who go to an Internal Medicine clinic for suspected limb-girdle myopathy or patients with asymptomatic hyper-CK-emia shall be included. Retrospectively, patients with a prior diagnosis of polymyositis and patients with a myopathy of uncertain origin accompanied by respiratory insufficiency shall be included. Before being included in the study, all patients will be asked to give informed consent. Acid maltase activity shall be determined by tests performed on leukocytes obtained from peripheral blood samples (5 mL).

You may qualify if:

• 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

You may not qualify if:

• Patients in treatment Patients with Pompe Disease

Sponsors & Collaborators

• Jordi Perez Lopez: lead
• Hospital Vall d'Hebron: collaborator

Study Sites (1)

Hospital Clínico de Barcelona

Barcelona, Barcelona, Spain

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II; Muscular Diseases; Polymyositis; Respiratory Insufficiency

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Myositis; Respiration Disorders; Respiratory Tract Diseases

Study Design

• Study Type: observational
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Médico Adjunto especialista en Medicina Interna.Responsable de la Unidad de Enfermedades Minoritarias

Study Record Dates

• First Submitted: November 27, 2011
• First Posted: November 30, 2011
• Study Start: December 1, 2011
• Primary Completion: December 1, 2012
• Last Updated: December 1, 2011

Record last verified: 2011-11

Locations

ES (1)