The effect of Triheptanoin in adults with McArdle Disease (Glycogen Storage Disease Type V)

Phase 1

• Conditions: McArdle Disease Also called: Glycogen Storage Disease Type V or Myophosphorylase Deficiency; MedDRA version: 19.0Level: LLTClassification code 10026970Term: McArdles diseaseSystem Organ Class: 10010331 - Congenital, familial and genetic disorders; MedDRA version: 19.0Level: LLTClassification code 10026969Term: McArdle's diseaseSystem Organ Class: 10010331 - Congenital, familial and genetic disorders; MedDRA version: 19.0Level: PTClassification code 10018462Term: Glycogen storage disease type VSystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

• Registration Number: EUCTR2014-003644-12-DK
• Lead Sponsor: euromuscular Research Unit, Rigshospitalet

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2014-11-04
• Last Update Posted: 18 June 2018

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 28

Inclusion Criteria

- Age > 18 years
- Age < 75 years
- Genetically and/or biochemically verified diagnosis of McArdle disease
- Body Mass Index of 18-32
- Capacity to consent
- Women in fertile age on contraceptive treatment with: Birth control pills, coil, ring, transdermal hormone patch injection of gestagen or subdermal implant.
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 28
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

- Significant cardiac or pulmonary disease
- Pregnancy (confirmed by plasma-HCG) or breastfeeding.
- Inability to perform cycling exercise
- Any other significant disorder that may confound the interpretation of the findings

Study & Design

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

Primary Outcome Measures

Name	Time	Method
Main Objective: To investigate the effect of Triheptanoin treatment on exercise performance in patients eith McArdle Disease;Secondary Objective: To investigate the effect of Triheptanoin treatment on:<br>- self-reated fatigue and occurence of symptoms<br>- maximal work capacity<br>- exertion<br>- glucose and fat meatbolism<br>in patients with McArdle Disease;Primary end point(s): During cycle ergometry exercise:<br>- Heart rate during constant load sub-maximal exercise intensity<br>- Maximal oxidative capacity at peak exercise intensity;Timepoint(s) of evaluation of this end point: Before and after 14 days of treatment with Triheptanoin and before and after 14 days of placebo treatment.

Secondary Outcome Measures

Name	Time	Method
Secondary end point(s): - Self-rated severity of Fatigue symptoms on a Fatigue Severity Scale (FSS)<br>- Urine concentrations of organic acids (3OH-propionate, heptanoate, methylmalonate, pimelate methylcitrate).<br><br>During cycle ergometry exercise:<br>- Maximal workload capacity<br>- Plasma concentrations of lactate, ammonia, glucose, FFA, acyl-carnitines and malate (a CAC intermediate), creatine kinase. <br>- Rate of Perceived Exertion during constant workload cycling (RPEconst). <br>;Timepoint(s) of evaluation of this end point: Before and after 14 days of treatment with Triheptanoin and before and after 14 days of placebo treatment.