HARRISON FORD IN GSD FILM
Extraordinary Measures starring Harrison Ford, based on the book "The Cure" it tells the story of John Crowley and his part in funding the development of an enzyme-replacement therapy for people with Pompe Disease. Two of John's children suffer from Pompe (GSD Type II). UK release 26th February.

 

MCARDLE HANDBOOK PROJECT
Thanks to the Vodafone Foundation Kathryn Wright is preparing a Handbook for people with McArdle's. More details here.

 


 

HARRISON FORD IN GSD FILM
Extraordinary Measures starring Harrison Ford, based on the book "The Cure" it tells the story of John Crowley and his part in funding the development of an enzyme-replacement therapy for people with Pompe Disease. Two of John's children suffer from Pompe (GSD Type II). UK release 26th February.

 

MCARDLE HANDBOOK PROJECT
Thanks to the Vodafone Foundation Kathryn Wright is preparing a Handbook for people with McArdle's. More details here.

 

Research into McArdle disease


The AGSD (UK) has been involved in supporting or cooperating with some of the following research projects.


CURRENT RESEARCH

Model Systems for Developing Therapies for McArdle Disease
This is pathfinder research aimed at finding novel approaches to therapies. It is a three year project based at the Centre for Inherited Neuromuscular Disease (CIND) at the Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry. The main aim is to create tissue culture cell models with the R50X (previously R49X) mutation. (This is the mutation present in approx 85% of UK McArdle patients.) The project will then use this model for testing various treatments designed to efficiently correct the mutation. AGSD (UK) supported the research with a grant of £20,000. For a progress report see under Workshop Reports, 2006, Type V.

News release - 2nd February 2006


COCHRANE REVIEW

Cochrane Reviews are based on the best available information about healthcare interventions. They explore the evidence for and against the effectiveness and appropriateness of treatments (medications, surgery, education, etc) in specific circumstances. A review of "Pharmacological and nutritional treatment for McArdle disease" is available.

The review's conclusions are: "It is not yet possible to recommend any specific treatment for McArdle's disease. Low dose creatine supplementation was shown to demonstrate a statistically significant benefit, albeit modest, in ischaemic exercise in a small number of patients. Ingestion of oral sucrose immediately prior to exercise reduces perceived ratings of exertion and heart rate and improves exercise tolerance. This treatment will not influence sustained or unexpected exercise and may cause significant weight gain. Because of the rarity of McArdle's disease, there is a need to develop multicentre collaboration and standardised assessment protocols for future treatment trials."

Last assessed as up to date February 2008. Access the review on-line here.


PREVIOUS RESEARCH

Psychological processes in McArdle disease
In 2007 Dr Ros Quinlivan and Dr Nicky Edelstyn completed a small study looking at psychological processes in 10 patients with McArdle disease and 10 control patients with other musculoskeletal conditions, such as central core myopathy and limb-girdle muscular dystrophy. The aim of this research project was to investigate whether McArdle disease patients process information differently to control patients.

Since this was the first study of its kind, a broad range of processes were examined, which included ability to divide attention between competing tasks as well as single modality visual and auditory attention, reaction time, phonetic fluency, learning, memory for pictures and words, immediate and delayed memory. The test of phonetic fluency required participants to produce a list of words beginning with F, A, S, on 3 separate trials. Participants were given 60 seconds to retrieve as many words as they could, and they were also instructed to avoid repetitions and neologisms (nonwords). Given these demands, phonetic fluency tasks engage several high-level or ‘executive’ processes such as working memory, self-awareness or self-monitoring, decision making and inhibition of inappropriate responses.

No differences emerged between the patient groups on tests of reaction time, attention, learning and memory pictures. However, the McArdle patients performed less well on the phonetic fluency and delayed memory tasks. This pilot data implies that McArdle disease may be marked by an alteration in executive processes and a subtle change in delayed memory. However, these are preliminary findings which need to be replicated and explored in more depth in a larger research study which assesses a wider range of executive and memory processes.

Many thanks to those attendees of the Oswestry clinic who participated in this study.

Dr Nicky Edelstyn, Senior Lecturer in Cognitive Neuroscience, School of Psychology, University of Keele.
Dr Ros Quinlivan, Consultant in Musculo-skeletal disorders, The Agnes Jones and Robert Hunt Orthopaedic Hospital, Oswestry.

Research into McArdle disease


The AGSD (UK) has been involved in supporting or cooperating with some of the following research projects.


CURRENT RESEARCH

Model Systems for Developing Therapies for McArdle Disease
This is pathfinder research aimed at finding novel approaches to therapies. It is a three year project based at the Centre for Inherited Neuromuscular Disease (CIND) at the Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry. The main aim is to create tissue culture cell models with the R50X (previously R49X) mutation. (This is the mutation present in approx 85% of UK McArdle patients.) The project will then use this model for testing various treatments designed to efficiently correct the mutation. AGSD (UK) supported the research with a grant of £20,000. For a progress report see under Workshop Reports, 2006, Type V.

News release - 2nd February 2006


COCHRANE REVIEW

Cochrane Reviews are based on the best available information about healthcare interventions. They explore the evidence for and against the effectiveness and appropriateness of treatments (medications, surgery, education, etc) in specific circumstances. A review of "Pharmacological and nutritional treatment for McArdle disease" is available.

The review's conclusions are: "It is not yet possible to recommend any specific treatment for McArdle's disease. Low dose creatine supplementation was shown to demonstrate a statistically significant benefit, albeit modest, in ischaemic exercise in a small number of patients. Ingestion of oral sucrose immediately prior to exercise reduces perceived ratings of exertion and heart rate and improves exercise tolerance. This treatment will not influence sustained or unexpected exercise and may cause significant weight gain. Because of the rarity of McArdle's disease, there is a need to develop multicentre collaboration and standardised assessment protocols for future treatment trials."

Last assessed as up to date February 2008. Access the review on-line here.


PREVIOUS RESEARCH

Psychological processes in McArdle disease
In 2007 Dr Ros Quinlivan and Dr Nicky Edelstyn completed a small study looking at psychological processes in 10 patients with McArdle disease and 10 control patients with other musculoskeletal conditions, such as central core myopathy and limb-girdle muscular dystrophy. The aim of this research project was to investigate whether McArdle disease patients process information differently to control patients.

Since this was the first study of its kind, a broad range of processes were examined, which included ability to divide attention between competing tasks as well as single modality visual and auditory attention, reaction time, phonetic fluency, learning, memory for pictures and words, immediate and delayed memory. The test of phonetic fluency required participants to produce a list of words beginning with F, A, S, on 3 separate trials. Participants were given 60 seconds to retrieve as many words as they could, and they were also instructed to avoid repetitions and neologisms (nonwords). Given these demands, phonetic fluency tasks engage several high-level or ‘executive’ processes such as working memory, self-awareness or self-monitoring, decision making and inhibition of inappropriate responses.

No differences emerged between the patient groups on tests of reaction time, attention, learning and memory pictures. However, the McArdle patients performed less well on the phonetic fluency and delayed memory tasks. This pilot data implies that McArdle disease may be marked by an alteration in executive processes and a subtle change in delayed memory. However, these are preliminary findings which need to be replicated and explored in more depth in a larger research study which assesses a wider range of executive and memory processes.

Many thanks to those attendees of the Oswestry clinic who participated in this study.

Dr Nicky Edelstyn, Senior Lecturer in Cognitive Neuroscience, School of Psychology, University of Keele.
Dr Ros Quinlivan, Consultant in Musculo-skeletal disorders, The Agnes Jones and Robert Hunt Orthopaedic Hospital, Oswestry.