A Phase II pilot study to explore treatment with Sodium Valproate in Adults with McArdle Disease (Glycogen Storage Disorder Type V, GSDV) - Sodium Valproate for GSDV Version 1.0 13th January 2014

niversity College London,0 sites8 target enrollmentApril 4, 2014

Overview

Phase: Phase 1
Intervention: Not specified
Conditions: McArdle disease (Glycogen storage disease type V, GSDV). The condition is an inherited disorder of skeletal muscle that causes exercise intolerance. The condition can give way to potential rhabdomyolysis which can cause acute renal failure and from middle age muscle wasting and weakness. Affected patients are unable to produce lactate during ischaemic exercise due to a congenital lack of the enzyme muscle glycogen phosphorylase which is essential for glycogen metabolism.
Sponsor: niversity College London,
Enrollment: 8
Status: Active, not recruiting
Last Updated: 7 years ago

No summary available.

Registry

who.int

Start Date

April 4, 2014

End Date

December 10, 2018

Last Updated

7 years ago

Study Type

Interventional clinical trial of medicinal product

Sponsor

niversity College London,

•1\. Male and infertile/ post menopausal female subjects diagnosed with GSDV and over 18 years of age.
•Diagnosis will be 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 deletion in the muscle phosphorylase gene (PYGM).
•2\. Prior to recruitment all subjects will have been shown to have normal serum carnitine level and acylcarnitine blood profile.
•3\. Patients with mild elevation in bilirubin caused by Gilbert's syndrome will be included following assessment and according to the clinical judgment of the investigator.
•Are the trial subjects under 18? no
•Number of subjects for this age range: 0
•F.1\.2 Adults (18\-64 years) yes
•F.1\.2\.1 Number of subjects for this age range 8
•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\. People older than 64 years
•3\. Females of child bearing potential
•4\. Patients with Diabetes
•5\. Inflammatory disorders especially Systemic lupus erythematosis.
•6\. A previous history of sensitivity/allergy to sodium valproate and its excipients
•7\. Patients treated with sodium valproate for epilepsy or a psychiatric disorder within the last 12 months prior to recruitment
•8\. Patients with pre\-existenig liver disease or a family history of severe liver disease affecting a first degree relative. Liver disease will be defined by abnormal liver biopsy. Patients with GSDV will 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.
•9\. Patients prescribed other anti\-convulsant medication or any other medication known to interact with sodium valproate.
•10\. Patients who are sensitive to local anaesthetics that would prevent a muscle biopsy.