Effects on muscle function, in persons with McArdle disease, when treated with the drug Valproate.

Phase 1

• Conditions: McArdle disease (Glycogen storage disorder type V); MedDRA version: 17.0Level: LLTClassification code 10026969Term: McArdle's diseaseSystem Organ Class: 100000004850; Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05]

• Registration Number: EUCTR2014-001637-88-DK
• Lead Sponsor: John Vissing

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2014-06-24
• Last Update Posted: 2 October 2017

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 15

Inclusion Criteria

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

Exclusion Criteria

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.
11.Inability to exercise due to a lower limb fracture would be an exclusion criterion until there is complete recovery of the injury.
12.Patients known to have porphyria or an affected first degree relative affected with porphyria will be excluded from the study.
13.Patients known to have mitochondrial disease or where there is a first degree relative with mitochondrial disease.
14.Patients with a history of abnormal acyl carnitine profile or low serum carnitine level

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified