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Muscular dystrophy is a group of disorders that are characterized by progressive muscle weakening and loss of muscle mass, caused by defects in muscle proteins. Muscular dystrophy is almost always inherited disorders, and so far, no curative treatments exist. Previous studies have shown that endurance training significantly improves fitness and self-assessed muscle function in a variety of muscular dystrophies. In this study, we wish to investigate whether patients with Bethlem myopathy (a specific form of muscular dystrophy) also benefit from endurance training. The study consists of two test days, a 10-week training period and five blood tests. Patients will be required to train, three times per week, for 10 weeks, on a bike ergometer with a specific training intensity, under pulse rate monitoring. The training period will be flanked by two test days, where we will determine, and compare the patients' muscle strength and fitness level, from before to after the training program. The patients conditioning level will be determined from a 15 minute cycle ergometer test and patients will undergo three functional tests to determine their functional muscle strength. We will as a safety measure analyze blood tests before, during and after the training program for the muscle enzyme creatine kinase (an indicator of muscle damage) and through adverse effects as reported by patients during weekly telephone-consultations with the Principal investigator. We anticipate, that Bethlem myopathy patients will have a similar rise in fitness level and functional muscle strength, as that seen in patients with other forms of muscular dystrophy, who undertake a similar training program.
- This is a 2 stage exploratory study with a 3-month observational phase on the natural course, followed by a 12-month, open-label, non-comparative, single-arm, phase II pilot study on the efficacy, safety and tolerability of a low-protein diet (LPD) in 8 adult patients with Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). - Objective of this trial is to test the effect of a normocaloric LPD to reactivate autophagy in BM/UCMD patients. The primary end point of the study will be the change in muscle biopsy of Beclin 1, a marker of autophagy, at 1 year of LPD treatment when compared to baseline. - The rationale rests on our discoveries that (i) mitochondrial dysfunction mediated by inappropriate opening of the PTP plays a key role in collagen VI myopathies; (ii) defective autophagy with impaired removal of defective mitochondria amplifies the defect; and (iii) reactivation of autophagy with a low-protein diet or treatment with cyclosporine A, the mitochondrial PTP inhibitor, cured Co6a1-/- mice, hinting at a common target among all beneficial treatments - namely autophagy. - Specific aims of this project are to (i) study the modifications of clinical, nutritional and laboratory parameters in a cohort of patients with BM/UCMD during a 3-month observational period before starting the LPD treatment; (ii) assess the effect of a normocaloric LPD in correcting defective autophagy in muscle of patients; (iii) test if new non-invasive biomarkers of activation of autophagy examined in the blood are mirroring the effect of LPD in the muscle biopsy; (iv) assess the clinical efficacy and safety of the LPD with an innovative combination of complementary measures of the nutritional status in patients. - The anticipated output is defining and validating a therapeutic nutritional approach in autophagy upregulation for BM/UCMD.
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR). The CMDIR registers individuals with congenital muscular dystrophy, congenital myopathy and extends to the limb girdle and late onset spectrum for both disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. The registry includes demographic, disease specific and diagnostic questions. Key care parameters are surveyed longitudinally by proxy and/or patient report, confirmed by medical records. Genetic reports are curated by a board certified genetic counselor with support provided to families to pursue molecular confirmation through referrals to national centers of excellence. Study hypothesis: 1. To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases. 2. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.