Framakološka i dijetetska terapija McArdleove bolesti (bolest pohrane glikogena tip V)
Referencias
References to studies included in this review
References to studies excluded from this review
Additional references
References to other published versions of this review
Characteristics of studies
Characteristics of included studies [ordered by study ID]
Ir a:
| Methods | Randomised, open, cross‐over study | |
| Participants | 7 participants with McArdle disease (6 men, 1 woman), mean age 38 ± 5 years (range 25 to 60 years) | |
| Interventions | Fixed menu plan with recipes for 3 days | |
| Outcomes | Incremental cycle test 2/3 max for 15 minutes then max to exhaustion | |
| Notes | ||
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | High risk | Participants were alternately allocated to a carbohydrate‐rich or protein‐rich diet for the first arm of the study |
| Allocation concealment (selection bias) | High risk | Investigators enrolled participants according to the sequential order of inclusion |
| Blinding (performance bias and detection bias) | High risk | No participant or observer blinding |
| Incomplete outcome data (attrition bias) | Low risk | No dropouts or missing data |
| Selective reporting (reporting bias) | Low risk | Results were reported equally for both groups |
| Other bias | High risk | Participants were asked to follow recipes and weigh and record food on a form. There was no direct observation and food was not pre‐prepared for the participants |
| Methods | Placebo‐controlled cross‐over trial | |
| Participants | 6 participants (5 men and 1 woman), mean age 36 years (range 25 to 55 years) | |
| Interventions | 660 mL caffeine‐free drink with 75 g sucrose or artificial sweetener 40 minutes before exercise or 330 mL caffeine free drink that contained 37 g sucrose 5 minutes before exercise | |
| Outcomes | Cycle ergometry, heart rate, Borg RPP | |
| Notes | ||
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | Unclear risk | The method of randomisation was not described |
| Allocation concealment (selection bias) | Unclear risk | The method of allocation concealment was not described |
| Blinding (performance bias and detection bias) | High risk | Participants were blinded but observers were not blinded. It is not clear whether the placebo had an identical taste to the treatment |
| Incomplete outcome data (attrition bias) | Low risk | No dropouts or missing data |
| Selective reporting (reporting bias) | Unclear risk | Individual data were not given, the only data were the pooled differences from baseline |
| Other bias | Unclear risk | The mean difference in heart rate was reported but the range of heart rate for each group was not reported |
| Methods | Randomised, placebo‐controlled, cross‐over study | |
| Participants | 8 male and 2 female participants (age of participants was not recorded) | |
| Interventions | 50 mg pyridoxine or placebo given for 10 weeks followed by a 6‐week washout period and then cross‐over to the alternative treatment | |
| Outcomes | Erythrocyte aspartate aminotransferase activity to assess vitamin B6 status, PSEM to assess force generation and fatigability under ischaemic conditions | |
| Notes | ||
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | Low risk | Computer‐generated randomisation |
| Allocation concealment (selection bias) | Low risk | Pharmacy staff performed central allocation |
| Blinding (performance bias and detection bias) | Low risk | Both participants and observers were blinded |
| Incomplete outcome data (attrition bias) | High risk | No dropouts |
| Selective reporting (reporting bias) | Low risk | Outcomes specified in the protocol were reported as specified |
| Other bias | Low risk | No obvious other source of bias |
| Methods | Single‐blind, cross‐over study | |
| Participants | A 42‐year‐old affected woman | |
| Interventions | 2 mg subcutaneous glucagon, 2 mg of depot glucagon and 1 mL normal saline subcutaneously | |
| Outcomes | Isometric grip strength under ischaemic conditions. Exercise endurance curves were plotted | |
| Notes | ||
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | Unclear risk | The method of sequence generation was not described |
| Allocation concealment (selection bias) | Unclear risk | The method of allocation was not described |
| Blinding (performance bias and detection bias) | Low risk | Both the participant and observers were blinded to intervention |
| Incomplete outcome data (attrition bias) | Low risk | Data presented were complete |
| Selective reporting (reporting bias) | Low risk | Results from each intervention were equally reported; outcomes specified in methods were reported as specified |
| Other bias | Low risk | No other source of bias identified |
| Methods | Open, controlled study | |
| Participants | 3 adults (age and sex not specified) | |
| Interventions | Baseline assessments were performed after fasting, 100 g of oral dextrose or 0.33 mg/kg branched‐chain amino acids. Participants were assessed after 1 and 2 months of 0.3 g/kg of dietary branched‐chain amino acids as a supplement to their habitual diet | |
| Outcomes | Maximal concentric strength or torque at 60 cycles per minute and muscle endurance measured as absolute work performed to fatigue (60 or 90 cycles per minute with a 2 minute rest between sets) | |
| Notes | ||
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | High risk | The method of sequence generation was not described |
| Allocation concealment (selection bias) | High risk | There was no allocation concealment |
| Blinding (performance bias and detection bias) | High risk | There was no participant or observer blinding |
| Incomplete outcome data (attrition bias) | Low risk | Data were complete for each intervention |
| Selective reporting (reporting bias) | Low risk | Data from each intervention were equally reported; outcomes were reported as specified in methods |
| Other bias | Low risk | No other source of bias identified |
| Methods | Randomised, double‐blind, placebo‐controlled, cross‐over study | |
| Participants | 3 adults with McArdle disease (2 men and 1 woman, aged 26, 44 and 24 years) and 8 people with an exertional muscle pain syndrome (6 men and 2 women, aged 19 to 40 years) | |
| Interventions | 80 mg verapamil once daily for 3 days, twice daily for 4 days then 3 times daily for 5 weeks. After 6 weeks all participants stopped treatment for 2 weeks and then crossed over to the alternative treatment | |
| Outcomes | Pain diary which recorded the severity of muscle pain on a scale of 0 to 10, the amount of time spent reclining, sleeping, sitting and standing/ walking/ running for the same three hour period each day for 14 weeks, timed exercise test | |
| Notes | ||
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | Unclear risk | The method of sequence generation was not described |
| Allocation concealment (selection bias) | Unclear risk | The method of allocation concealment was not described |
| Blinding (performance bias and detection bias) | Low risk | Both participants and observers were blinded |
| Incomplete outcome data (attrition bias) | High risk | None of the McArdle participants kept satisfactory diaries |
| Selective reporting (reporting bias) | High risk | None of the McArdle participants kept adequate diaries |
| Other bias | Low risk | No other source of bias identified |
| Methods | Randomised, single‐blind, placebo‐controlled cross‐over trial | |
| Participants | 6 participants, 3 men (50, 39 and 27 years), 3 women (42, 29 and 25 years) | |
| Interventions | 77 mg/kg branched‐chain amino acids as a drink and a control 200 mL non‐calorific drink | |
| Outcomes | Performance on cycle ergometer for 20 minutes at maximal intensity without experiencing pain or exhaustion | |
| Notes | ||
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | Unclear risk | The method of sequence generation was not described |
| Allocation concealment (selection bias) | Unclear risk | The method of allocation concealment was not described |
| Blinding (performance bias and detection bias) | High risk | Only participants were blinded. It is not clear if the placebo and treatment had the same taste |
| Incomplete outcome data (attrition bias) | Low risk | There were no dropouts or incomplete data |
| Selective reporting (reporting bias) | Low risk | There was equal reporting for placebo and treatment groups; outcomes in methods were reported as specified |
| Other bias | Low risk | No other source of bias was identified |
| Methods | Randomised, placebo‐controlled cross‐over trial of ramipril | |
| Participants | 8 participants, mean age 34.4 years, range 19 to 45; 6 male | |
| Interventions | 2.5 mg ramipril daily for 12 weeks versus placebo for 12 weeks. 4‐week washout | |
| Outcomes | Cycle ergometry, maximal workload, maximum heart rate and maximum oxygen uptake. 31P‐MRS calf during plantar flexion, SF‐36 and WHO‐DAS 11 | |
| Notes | ||
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | Unclear risk | The method of randomisation was not described |
| Allocation concealment (selection bias) | Unclear risk | The method of allocation concealment was not described |
| Blinding (performance bias and detection bias) | Unclear risk | Both participants and observers were blinded |
| Incomplete outcome data (attrition bias) | Unclear risk | All 8 randomised participants were evaluated |
| Selective reporting (reporting bias) | Unclear risk | Data are reported equally for both treatment and placebo groups |
| Other bias | Unclear risk | Placebos were provided free of charge by the pharmaceutical company |
| Methods | Randomised, double‐blind, placebo‐controlled cross‐over trial | |
| Participants | 2 women (23 and 29 years) and 3 men (aged 21, 28 and 41 years) | |
| Interventions | Participants received placebo or dantrolene sodium 150 mg for 6 weeks; the dose was built up to 50 mg three times a day over 3 days. There was a 4‐week washout period before cross‐over to the alternative treatment for a further 6 weeks | |
| Outcomes | Weekly subjective scores of improvement and serum CK. Performance on a cycle ergometer at 30% VO2 max after a 12‐hour fast at the end of each treatment phase | |
| Notes | 4 participants had to reduce the daily dose of dantrolene to 100 mg or 75 mg because of side effects | |
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | Unclear risk | The method of randomisation was not described |
| Allocation concealment (selection bias) | Unclear risk | The method of allocation was not described |
| Blinding (performance bias and detection bias) | Low risk | Participants and observers were blinded. Adverse effects from treatment may have compromised blinding |
| Incomplete outcome data (attrition bias) | Low risk | No incomplete data |
| Selective reporting (reporting bias) | Low risk | Data were provided from both treatment and placebo groups; outcomes specified in methods were reported as specified. |
| Other bias | Low risk | No other source of bias was identified |
| Methods | Randomised, double‐blind, placebo‐controlled trial | |
| Participants | 4 men and 1 woman, age range 20 to 60 years | |
| Interventions | 15 g oral ribose 4 times a day for 7 days, or placebo | |
| Outcomes | Muscle performance on treadmill with respiratory gas analysis | |
| Notes | ||
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | Unclear risk | The method of sequence generation was not described |
| Allocation concealment (selection bias) | Low risk | The method of allocation concealment was not described |
| Blinding (performance bias and detection bias) | Unclear risk | Participants and observers were blinded. Adverse effects of oral ribose may have compromised blinding |
| Incomplete outcome data (attrition bias) | Low risk | There did not appear to be any incomplete data |
| Selective reporting (reporting bias) | Low risk | Results were equally reported for treatment and placebo group, outcomes specified in methods were reported as specified. |
| Other bias | Low risk | No other source of bias was identified |
| Methods | Randomised, single‐blind, placebo‐controlled cross‐over study | |
| Participants | 7 men and 5 women aged 22 to 57 years | |
| Interventions | 75 g oral sucrose or placebo | |
| Outcomes | Heart rate, level of perceived exertion, blood glucose levels | |
| Notes | Significant reduction in perceived exertion and heart rate. Significant rise in blood glucose levels | |
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | High risk | Treatment or placebo were given on consecutive days in a non‐random order |
| Allocation concealment (selection bias) | High risk | There did not appear to be a method for allocation concealment |
| Blinding (performance bias and detection bias) | High risk | Single blinded study where participants but not observers were blinded. It is not clear if the placebo and treatment had the same taste |
| Incomplete outcome data (attrition bias) | Low risk | There were no dropouts |
| Selective reporting (reporting bias) | High risk | Pooled peak heart rate data is given for placebo group but for the treatment group only the mean difference in heart rate is given |
| Other bias | Low risk | No other source of bias was identified |
| Methods | Randomised, double‐blind, placebo‐controlled cross‐over trial | |
| Participants | 9 cases (6 female and 3 male participants aged 9 to 61 years) | |
| Interventions | Placebo or creatine, loading dose for 5 days (150 mg/kg) then 60 mg /kg for 5 weeks then a 4‐week washout period and cross‐over to the other treatment | |
| Outcomes | Fatigue severity score, muscle 31P‐MRS, 3 minute ischaemic exercise test | |
| Notes | ||
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | Unclear risk | The method of randomisation was not described |
| Allocation concealment (selection bias) | Unclear risk | The method for allocation concealment was not described |
| Blinding (performance bias and detection bias) | Low risk | Both participants and observers were blinded |
| Incomplete outcome data (attrition bias) | Low risk | There were no dropouts or incomplete data |
| Selective reporting (reporting bias) | Low risk | Results were equally reported for both groups; outcomes specified in methods were reported as specified |
| Other bias | Low risk | No other source of bias identified |
| Methods | Randomised, double‐blind, placebo‐controlled trial | |
| Participants | 19 cases (8 female and 11 male participants aged 11 to 59 years) | |
| Interventions | Creatine 150 mg/kg/day for 5 weeks versus placebo, washout period 4 weeks | |
| Outcomes | Subjective muscle symptoms, serum CK, creatine, 31P‐MRS and surface EMG | |
| Notes | ||
| Risk of bias | ||
| Bias | Authors' judgement | Support for judgement |
| Random sequence generation (selection bias) | Unclear risk | The method of sequence generation was unclear |
| Allocation concealment (selection bias) | Unclear risk | The method of allocation concealment was unclear |
| Blinding (performance bias and detection bias) | Low risk | Paticipants and observers were blinded |
| Incomplete outcome data (attrition bias) | Low risk | No dropouts and complete data were reported |
| Selective reporting (reporting bias) | Low risk | There was equal reporting of results for both groups; outcomes specified in methods were reported as specified. |
| Other bias | Low risk | No other source of bias identified |
CK: creatine kinase
EMG: electromyography
31P‐MRS: magnetic resonance spectroscopy
PSEM: programmed stimulation electromyogram
RPP: rate pressure product
SF‐36: Short Form 36 Health Survey
VO2: oxygen consumption
WHO‐DAS 11: World Health Organisation Disability Assessment Scale
Characteristics of excluded studies [ordered by study ID]
Ir a:
| Study | Reason for exclusion |
| Non‐blinded observational study, no concealment of allocation | |
| Single case study | |
| 3 people with McArdle disease, no controls. No concealment of allocation | |
| Single participant study with baseline controls data but controls did not receive intervention therapy. No concealment of allocation, no statistical analysis | |
| Single participant, no concealment of allocation. Participant concurrently self medicating with coenzyme Q10 | |
| Single participant with 2 normal controls. No concealment of allocation | |
| 2 female participants with McArdle disease (GSD V) compared with 2 male cases with phosphofructokinase deficiency (GSD VII). No concealment of allocation. Only one GSD V participant and one GSD VII participant were assessed with bicycle ergometry | |
| Single case study, no concealment of allocation | |
| Single case study, inadequate concealment of allocation | |
| Longitudinal open study | |
| Single case study, no concealment of allocation | |
| Single case study, no concealment of allocation | |
| Single participant, no concealment of allocation | |
| Open design, no concealment of allocation | |
| Single participant, no concealment of allocation |
GSD: glycogen storage disease
Risk of bias summary: review authors' judgements about each risk of bias item for each included study. Red (‐) = high risk of bias; yellow (?) = unclear risk of bias, green (+) = low risk of bias.
