Status:
COMPLETED
Evaluate the Effort Test as a Therapeutic Monitoring Tool in Acute Rhabdomyolyses
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Collaborating Sponsors:
URC-CIC Paris Descartes Necker Cochin
Conditions:
Rhabdomyolysis Linked to a Hereditary Disease of Metabolism
Eligibility:
All Genders
6-75 years
Brief Summary
The prognosis of rhabdomyolyses related to hereditary diseases of metabolism is poor and treatments are only symptomatic. Rhabdomyolysis outbreaks are frequently precipitated by fever and fasting. The...
Detailed Description
Rhabdomyolysis is a poorly known symptom associated with the destruction of skeletal muscle cells. The diagnosis of rhabdomyolyses is carried when the dosage of muscle enzymes, in particular creatine ...
Eligibility Criteria
Inclusion
- subjects with metabolic rhabdomyolysis related to a hereditary metabolic disease :
- Inclusion Criteria:
- pathology characterized on the biochemical and molecular level
- patients who can make an effort test
- patients who benefited from a diagnostically targeted muscle biopsy with backup of myoblasts (group 1)
- patients who have benefited from a diagnostically targeted muscle biopsy but whose myoblasts are not available (group 2) Exclusion Criteria
- inability or refusal of compliance to the requirements of the research
- patients with contraindications for the effort test in particular heart failure and acute rhabdomyolysis
- Patients without biochemical and/or molecular diagnosis
- Criteria for inclusion of witness patients :
- holders of parental authority and/or patients not opposed to the use of their cardio-respiratory analysis results for this study or to the use of their myoblasts for this study
- normal cardio-respiratory analysis results
- normal myoblasts (group 4).
Exclusion
Key Trial Info
Start Date :
October 25 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 31 2021
Estimated Enrollment :
27 Patients enrolled
Trial Details
Trial ID
NCT03802279
Start Date
October 25 2019
End Date
December 31 2021
Last Update
September 12 2025
Active Locations (1)
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1
Hôpital Necker-Enfants Malades
Paris, France, 75015