Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis (POPS)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier:
NCT00830583
First received: January 27, 2009
Last updated: December 7, 2011
Last verified: January 2009
  Purpose

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.


Condition Intervention
Pompe's Disease
Procedure: blood test

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis

Resource links provided by NLM:


Further study details as provided by Centre Hospitalier Universitaire de Nice:

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. [ Time Frame: during the first and the only visit ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]
  • Define the various methods of diagnosis for the Pompe Disease. [ Time Frame: during the first and the only visit ] [ Designated as safety issue: No ]

Estimated Enrollment: 400
Study Start Date: January 2009
Study Completion Date: October 2011
Primary Completion Date: October 2011 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
1
pompe's disease suspected patient
Procedure: blood test
There is only a blood test at the beginning.

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.

  Eligibility

Ages Eligible for Study:   8 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00830583

Locations
France
Claude Desnuelle
Nice, France
Sponsors and Collaborators
Centre Hospitalier Universitaire de Nice
Investigators
Principal Investigator: Claude Desnuelle CHU de Nice
  More Information

No publications provided

Responsible Party: Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier: NCT00830583     History of Changes
Other Study ID Numbers: 08-PP-02
Study First Received: January 27, 2009
Last Updated: December 7, 2011
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Muscle Weakness
Paresis
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
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Manifestations
Neurologic Manifestations
Pathologic Processes
Signs and Symptoms

ClinicalTrials.gov processed this record on July 24, 2014