Status:
COMPLETED
McArdle Disease Treatment by Ketogenic Diet
Lead Sponsor:
IRCCS Eugenio Medea
Collaborating Sponsors:
University of Pisa
University of Messina
Conditions:
Glycogen Storage Disease
Eligibility:
All Genders
18+ years
Phase:
NA
Brief Summary
McArdle's disease or Glycogen storage disease type 5 (GSD5), the most common muscle glycogenosis, is a rare disabling condition with no effective treatment. There are indications that a special dietar...
Detailed Description
McArdle disease (myophosphorylase deficiency, glycogen storage disease type 5, GSD5, OMIM # 232600) is an inherited metabolic disorder of skeletal muscle. Affected patients suffer from genetically det...
Eligibility Criteria
Inclusion
- molecularly defined Glycogen storage disease type 5, ability to perform a cycle ergometer exercise test
Exclusion
- pregnancy,
- medical condition preventing a LCKD regimen (CPT2 or acyl-CoA deficiency, liver heart or kidney failure, unstable diabetes).
Key Trial Info
Start Date :
March 25 2019
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
June 30 2021
Estimated Enrollment :
16 Patients enrolled
Trial Details
Trial ID
NCT04292938
Start Date
March 25 2019
End Date
June 30 2021
Last Update
August 26 2021
Active Locations (1)
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1
IRCCS Medea
Conegliano, Treviso, Italy, 31015