A phase 2a study to explore treatment with Sodium Valproate in adults with McArdle Disease (Glycogen Storage Disorder Type V, GSDV) - Valproate treatment in McArdle disease

John Vissing0 sites15 target enrollmentJune 24, 2014

Overview

No summary available.

Registry

who.int

Start Date

June 24, 2014

End Date

TBD

Last Updated

8 years ago

Study Type

Interventional clinical trial of medicinal product

Sex

All

Sponsor

John Vissing

•1\. Subjects diagnosed with McArdle's disease. Diagnosis will have been confirmed by either muscle biopsy showing subsarcolemmal blebs of glycogen with complete absence of skeletal muscle glycogen phosphorylase and/or DNA studies showing pathogenic homozygous or compound heterozygous mutations or deletions in the muscle phophorylase gene.
•2\. Subjects over 18 years of age
•3\. Normal serum carnitine and acylcarnitine blood profiles at screening visit.
•Are the trial subjects under 18? no
•Number of subjects for this age range:
•F.1\.2 Adults (18\-64 years) yes
•F.1\.2\.1 Number of subjects for this age range 7
•F.1\.3 Elderly (\>\=65 years) no
•F.1\.3\.1 Number of subjects for this age range 0

•1\.Children under the age of 18 years
•2\.Pregnant women
•3\.Known Diabetes mellitus
•4\.Inflammatory disorders especially systemic lupus erythematosis.
•5\.A previous history of sensitivity/allergy to sodium valproate.
•6\.Patients treated with sodium valproate for epilepsy or a psychiatric disorder within the last 12 months prior to recruitment.
•7\.Patients with pre\-existing liver disease or a family history of severe liver disease affecting a first degree relative. Patients with GSDV may have raised serum transaminases that originate from muscle but which may cause abnormal liver function tests measured in serum, this will not be a reason for exclusion. Patients with mild elevation in bilirubin caused by clinically insignificant Gilbert’s syndrome (as demonstrated by a high ratio of unconjugated/conjugated billirubin) will also be included in the study.
•8\.Patients prescribed other anti\-convulsant medication or any other medication known to interact with sodium valproate.
•9\.Patients who are sensitive to local anaesthetics that would prevent muscle biopsy.
•10\.Subjects with any co\-morbid illness or disability which would prevent an exercise assessment such as severe unstable/ untreated ischaemic heart disease, lower limb disability such as severe muscle weakness with muscle strength assessed as worse than MRC scale 3 in any pelvic girdle muscle.