Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis (POPS)
Primary Purpose
Pompe's Disease
Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
blood test
Sponsored by
About this trial
This is an interventional diagnostic trial for Pompe's Disease
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.
Sites / Locations
- Claude Desnuelle
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
1
Arm Description
pompe's disease suspected patient
Outcomes
Primary Outcome Measures
Evaluate the prevalence of the Pompe disease among patients with progressive limb girdle muscular weakness and/or axial deficiency, and/or respiratory insufficiency. The diagnosis will be confirmed using DBS.
Secondary Outcome Measures
Evaluate the relative sensibility of the diagnosis in the Pompe disease by muscular biopsy with histological methods (PAS and acid phosphatase).
Define the various methods of diagnosis for the Pompe Disease.
Full Information
NCT ID
NCT00830583
First Posted
January 27, 2009
Last Updated
December 7, 2011
Sponsor
Centre Hospitalier Universitaire de Nice
1. Study Identification
Unique Protocol Identification Number
NCT00830583
Brief Title
Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis
Acronym
POPS
Official Title
Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis
Study Type
Interventional
2. Study Status
Record Verification Date
January 2009
Overall Recruitment Status
Completed
Study Start Date
January 2009 (undefined)
Primary Completion Date
October 2011 (Actual)
Study Completion Date
October 2011 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Centre Hospitalier Universitaire de Nice
4. Oversight
Data Monitoring Committee
No
5. Study Description
Brief Summary
An international consensual group recommends confirming the diagnosis of the Pompe disease after a dried blood spot (DBS) with a dosage of the enzymatic activity in other tissue. This strategy is currently used in the usual practice.
The aim is evaluate the prevalence of the Pompe disease among patients with progressive limb girdle muscular weakness and/or axial deficiency, and/or respiratory insufficiency. The diagnosis will be confirmed using DBS.
Detailed Description
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, very rare and unknown.
The late onset type of the disease (from childhood to adult) is revealed by progressive muscle weakness generally beginning in proximal muscles of the legs. Respiratory muscle weakness is often the cause of death among patients having respiratory insufficiency.
Recognizing Pompe disease can be challenging, as signs and symptoms may be shared with other disorders (limb girdle muscular dystrophy, dystrophinopathy or inflammatory myopathy).
Muscle biopsies are often used to measure GAA activity and for histology in patients with muscle weakness. But glycogen accumulation in the muscles of patients varies with biopsy site, so the diagnosis of Pompe disease can be missed by using only a muscle biopsy. Fibroblasts can also serve as a source of material for research but cell culture facilities are not easy for clinicians and it takes several weeks to obtain confluent cultures. Then, assays that use blood to diagnose Pompe disease were developed. Therefore, a group of international clinicians and biologists met together in London in December 2006 and established an agreement concerning the various methods of this enzyme dosage. Recently, a test on a DBS (dried blood spot) has been developed. This test is not invasive, easy to collect and transport, requires small sample volume and provides rapid results. This international consensual group recommends confirming the diagnosis of the Pompe disease after a DBS with a dosage of the enzymatic activity in other tissue. This strategy is currently used in the usual practice.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Pompe's Disease
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
400 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
1
Arm Type
Other
Arm Description
pompe's disease suspected patient
Intervention Type
Procedure
Intervention Name(s)
blood test
Intervention Description
There is only a blood test at the beginning.
Primary Outcome Measure Information:
Title
Evaluate the prevalence of the Pompe disease among patients with progressive limb girdle muscular weakness and/or axial deficiency, and/or respiratory insufficiency. The diagnosis will be confirmed using DBS.
Time Frame
during the first and the only visit
Secondary Outcome Measure Information:
Title
Evaluate the relative sensibility of the diagnosis in the Pompe disease by muscular biopsy with histological methods (PAS and acid phosphatase).
Time Frame
during the first and the only visit
Title
Define the various methods of diagnosis for the Pompe Disease.
Time Frame
during the first and the only visit
10. Eligibility
Sex
All
Minimum Age & Unit of Time
8 Years
Accepts Healthy Volunteers
No
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.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Claude Desnuelle
Organizational Affiliation
Centre Hospitalier Universitaire de Nice
Official's Role
Principal Investigator
Facility Information:
Facility Name
Claude Desnuelle
City
Nice
Country
France
12. IPD Sharing Statement
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Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis
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