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Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis

NCT00830583 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 400

Last updated 2011-12-08

No results posted yet for this study

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.

Conditions

  • Pompe's Disease

Interventions

PROCEDURE

blood test

There is only a blood test at the beginning.

Sponsors & Collaborators

  • Centre Hospitalier Universitaire de Nice

    lead OTHER

Principal Investigators

  • Claude Desnuelle · Centre Hospitalier Universitaire de Nice

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
8 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2009-01-31
Primary Completion
2011-10-31
Completion
2011-10-31

Countries

  • France

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 NCT00830583 on ClinicalTrials.gov