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

Primary Purpose

Pompe Disease

Status
Unknown status
Phase
Locations
Spain
Study Type
Observational
Intervention
Sponsored by
Jordi Perez Lopez
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an observational trial for Pompe Disease focused on measuring Myopathies, Pompe disease, Polymyositis, Respiratory Insufficiency

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

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 Criteria:

Patients in treatment Patients with Pompe Disease

Sites / Locations

  • Hospital Clínico de Barcelona

Arms of the Study

Arm 1

Arm Type

Arm Label

Pompe suspected patients

Arm Description

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

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

First Posted
November 27, 2011
Last Updated
November 30, 2011
Sponsor
Jordi Perez Lopez
Collaborators
Hospital Vall d'Hebron
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1. Study Identification

Unique Protocol Identification Number
NCT01482494
Brief Title
Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia
Official Title
Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia
Study Type
Observational

2. Study Status

Record Verification Date
November 2011
Overall Recruitment Status
Unknown status
Study Start Date
December 2011 (undefined)
Primary Completion Date
December 2012 (Anticipated)
Study Completion Date
undefined (undefined)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor-Investigator
Name of the Sponsor
Jordi Perez Lopez
Collaborators
Hospital Vall d'Hebron

4. Oversight

Data Monitoring Committee
No

5. Study Description

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.
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 cell into simpler ones. A deficiency in the activity of any of these enzymes results in the progressive accumulation of substances that cause a storage disease. Pompe disease is a progressive muscle disease that is often fatal, caused by a deficiency of lysosomal alpha glucosidase (also known as acid maltase) activity. This leads to the accumulation of glycogen in many tissues, most notably in skeletal and cardiac tissues and in muscle tissue. It is therefore also a glycogen storage disease (type II). It is inherited in an autosomal recessive manner and was the first lysosomal storage disease to be identified. The incidence rate varies by geographic area and ethnic group, and is estimated to be between 1/300,000 to 1:40,000. It has a broad clinical spectrum that varies with respect to age of onset, rate of progression and extent of organ involvement. 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. Diagnosis is based on clinical suspicion, determination of lysosomal acid alpha-glucosidase activity and confirmation of a mutation in the gene for this enzyme, located on chromosome 17. Glycogenosis type II is a multisystem disorder and therefore requires a multidisciplinary approach for its treatment. Motor recovery, ventilatory support and nutritional management in patients with gastrointestinal involvement, are seen as fundamental to the treatment. Since 2.000, enzyme replacement therapy with alpha-alglucosidase has been used, whose safety and effectiveness, especially in childhood, has been published in several papers.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Pompe Disease
Keywords
Myopathies, Pompe disease, Polymyositis, Respiratory Insufficiency

7. Study Design

Enrollment
50 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Pompe suspected patients
Arm Description
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

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria: 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 Criteria: Patients in treatment Patients with Pompe Disease
Study Population Description
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).
Sampling Method
Probability Sample
Facility Information:
Facility Name
Hospital Clínico de Barcelona
City
Barcelona
Country
Spain

12. IPD Sharing Statement

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

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