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Queen Square Centre for Neuromuscular Diseases

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We take an active approach to research and are interested in developing the best results to assess and manage glycogen storage diseases.

A phase 2a pilot study, exploring treatment with Sodium Valproate in adults with McArdle disease

Study aims: 
To test if Sodium Valproate can improve symptoms of people with McArdle disease during exercise
Funder:
Muscular Dystrophy UK
Start date:
January 2015
Location: 
London and Copenhagen 
Recruitment:
15 required (active) 

EUROMAC

Study aims: Early diagnosis, high quality advice and management, and to identify suitable candidates for inclusion in future studies of treatments and trials of drugs.

Euromac is a registry of people diagnosed glycogen storage diseases.

The registry is a secure, anonymised and confidential database designed to contain the medical data related to people who give their consent to inclusion.

EUROMAC aims to promote awareness and understanding of the conditions, improve standards of diagnosis and care and to promote research.

By being included in the registry, patients will be contributing to the well-being of future generations of people with these conditions.

Further information

Further information about this study can be obtained from the MRC Centre Clinical Trials Coordinator on 020 3448 8011.

Publications

Brady S; Godfrey R; Scalco RS; Quinlivan RM. Emotionally-intense situations can result in rhabdomyolysis in McArdle disease. BMJ Case Reports. 2014, 2014.

Buckley JP; Quinlivan RM; Sim J; Eston RG; Short DS. Heart rate and perceived muscle pain responses to a functional walking test in McArdle disease. Journal of Sports Sciences. 32(16):1561-9, 2014

Godfrey R, Quinlivan R. Skeletal Muscle Disorders of Glycogenolysis and Glycolysis. Nature Reviews Neurology. 12(7):393-402, 2016 Jul.

Howell JM, Dunton E, Creed KE, Quinlivan R, Sewry C. Investigating sodium valproate as a treatment for McArdle disease in sheep. Neuromuscular Disorders 2015:25; 111-9

Howell JM; Walker KR; Creed KE; Dunton E; Davies L; Quinlivan R; Karpati G. Phosphorylase re-expression, increase in the force of contraction and decreased fatigue following notexin-induced muscle damage and regeneration in the ovine model of McArdle disease. Neuromuscular Disorders. 24(2):167-77, 2014 Feb.

Lucia A; Quinlivan R; Wakelin A; Martin MA; Andreu AL. The 'McArdle paradox': exercise is a good advice for the exercise intolerant. British Journal of Sports Medicine. 47(12):728-9, 2013 Aug.

Muniz-Pumares D, Pedlar C, Godfrey R, Glaister M. A comparison of methods to estimate anaerobic capacity: Accumulated oxygen deficit and W' during constant and all-out work-rate profiles. J Sports Sci. 2017 Dec;35(23):2357-2364

Muniz-Pumares D, Pedlar C, Godfrey RJ, Glaister M.. Accumulated Oxygen Deficit During Exercise to Exhaustion Determined at Different Supramaximal Work Rates. Int J Sports Physiol Perform. 2017 Mar;12(3):351-356.

Muniz-Pumares D, Pedlar C, Godfrey R, Glaister M. The effect of the oxygen uptake-power output relationship on the prediction of supramaximal oxygen demands. J Sports Med Phys Fitness. 2017 Jan-Feb;57(1-2):1-7.

Musumeci O; Brady S; Rodolico C; Ciranni A; Montagnese F; Aguennouz M; Kirk R; Allen E; Godfrey R; Romeo S; Murphy E; Rahman S; Quinlivan R; Toscano A. Recurrent rhabdomyolysis due to muscle beta-enolase deficiency: very rare or underestimated?. Journal of Neurology. 261(12):2424-8, 2014 Dec.

Quinlivan R, , Andreu AL, Marti R; Workshop Participantset al. 211th ENMC International Workshop: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care 17-19th April 2015 Naarden, Netherlands. Neuromuscular Disorders 2017 Sep 14

R Quinlivan, P Laforet. Chronic Fatigue and Rhabdomyolysis p453-460. In Inherited Metabolic Disease in Adults 1st Edition Oxford University Press 2016

Quinlivan R; Lucia A; Scalco RS; Santalla A; Pattni J; Godfrey R; Marti R; Workshop Participants. Report on the EUROMAC McArdle Exercise Testing Workshop, Madrid, Spain, 11-12 July 2014. Neuromuscular Disorders. 25(9):739-45, 2015 Sep.

Quinlivan R; Martinuzzi A; Schoser B. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). [Review][Update of Cochrane Database Syst Rev. 2010;(12):CD003458; PMID: 21154353] Cochrane Database of Systematic Reviews. 11:CD003458, 2014

Scalco RS; Chatfield S; Godfrey R; Pattni J; Ellerton C; Beggs A; Brady S; Wakelin A; Holton JL; Quinlivan R. From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease. Arquivos de Neuro-Psiquiatria. 72(7):538-41, 2014 Jul.

Scalco RS; Gardiner AR; Pitceathly RD; Zanoteli E; Becker J; Holton JL; Houlden H; Jungbluth H; Quinlivan R. Rhabdomyolysis: a genetic perspective. Orphanet Journal Of Rare Diseases. 10(1):51, 2015.

Scalco RS, Lorenzoni PJ, Lynch DS, Martins WA, Jungbluth H, Quinlivan R, Becker J. Polymyositis without beneficial response to steroid therapy: Should Miyoshi Myopathy be a differential diagnosis? Am J Case Rep. 2017 Jan 5;18:17-21.

Scalco RS, Morrow JM, Booth S, Chatfield S, Godfrey R, Quinlivan R. Misdiagnosis is an important factor for diagnostic delay in McArdle disease. Neuromuscular Disorders. 2017 Sep;27(9):852-855.

Scalco RS; Voermans NC; Piercy RJ; Jungbluth H; Quinlivan R. Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis. European Journal of Neurology. 23(8):e56-7, 2016 Aug.