SNPMiner Trials by Shray Alag

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Report for Mutation G205S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Ketogenic Diet in McArdle Disease: a Multicentric Single Blind Controlled Trial

McArdle's disease or Glycogen storage disease type 5 (GSD5), the most common muscle glycogenosis, is a rare disabling condition with no effective treatment. There are indications that a special dietary regimen could positively influence the disease manifestations. After contradictory indications for protein rich vs carbohydrate rich diets, several preliminary studies and more and more patients own experiences are now pointing to a low carbohydrate ketogenic diet (LCKD) as possibly effective in improving exercise tolerance and reducing muscle damage. We propose a multicentre randomized single blind controlled trial testing efficacy of an individualized LCKD in GSD5. We will test the ability of a 6 months dietary regimen with a 3:1 LCKD inducing a BOHB blood concentration of 1.5-4 mmol/l to improve the aerobic capacity as measured by peak VO2 at exercise testing in GSD5 patients. Seventy-two molecularly defined MCA adults will be enrolled: to half of them randomly selected the dietary regimen will be prescribed, while the control group will follow their usual balanced diet. The evaluators will be blinded to the diet followed by the examined patient

NCT04292938 Glycogen Storage Disease Dietary Supplement: Low carbohydrate ketogenic diet
MeSH: Glycogen Storage Disease Glycogen Storage Disease Type V

A second frequent mutation in this population, and in Spanish patients, is Gly205Ser (G205S) (6). --- Gly205Ser ---

A second frequent mutation in this population, and in Spanish patients, is Gly205Ser (G205S) (6). --- Gly205Ser --- --- G205S ---

Primary Outcomes

Description: pre to post diet comparison of maximal O2 consumption attained during an incremental cycle ergometer test

Measure: increase in maximal (peak) oxidative capacity (VO2max)

Time: six months

Secondary Outcomes

Description: change in the maximum heart rate during constant load cycling exercise (HR const)

Measure: heart rate

Time: six months

Description: increase in maximal workload capacity (Wmax) at incremental cycle ergometer test

Measure: maximal workload

Time: six months

Description: the maximum walking distance in 12 minutes

Measure: 12 min walking test

Time: six months

Description: self-rated severity of fatigue symptoms on a Fatigue Severity Scale (FSS)

Measure: Fatigue

Time: six months

Description: the quality of life assessed using the 36-item Short Form Health Survey questionnaire (SF36)

Measure: SF36

Time: six months

Description: the functional disability assessed using the WHO Disability Assessment Schedule 2.0 (WHODAS 2.0)

Measure: Disability

Time: six months

Description: the rate of Perceived Exertion during constant workload cycling (RPEconst) scored on a NRS scale

Measure: exertion

Time: six months

HPO Nodes