Active clinical trials for "Muscular Dystrophies"

This research study wants to learn more about Duchenne Muscular Dystrophy (DMD) and exercise. Today it is unknown how exercising impacts boys with DMD. The investigators believe that increasing activity and aerobic exercise may help with heart, lung, and muscle function. The investigators are hoping to compare physical strength and blood samples of boys with DMD to see if there are any differences between kids who exercised more as a child versus those who didn't.

This is a pilot clinical trial to assess the ability of a new ultrasound-based imaging method, Double-Push Acoustic Radiation Force (DP ARF) ultrasound, to monitor the progression of Duchenne muscular dystrophy. The hypothesis being tested is that DP ARF ultrasound delineates changes in muscle composition and function in individual dystrophic muscles, from early through late stages of disease development, that correlate to time to loss of ambulation in patient volunteers.

This is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study. Demographic data, medical and family histories of the patients included in the study will be collected at the first admission. The following laboratory values of the patients will be collected: Alanine Transaminase (ALT) Aspartate Transaminase (AST) Gamma Glutamyl Transferase (GGT) Creatine Phosphokinase (CPK) In addition, physical examination information and Abdominal USG and Liver Biopsy Results, if any, will be collected. Following the above scans, enzyme analysis for late-onset Pompe disease in boys and girls and adolescents with high CPK levels and molecular genetic tests for Duchenne muscular dystrophy in boys and adolescents with high CPK levels will be performed.

Bullying is an epidemic in Canada, and rates may be underreported. Youth with a disability were more likely to be bullied that those without disabilities, specifically if the disability was visible. Research has been conducted on the prevalence and effects of bullying in youth with disabilities such as cerebral palsy, obesity, and chronic pain; however, there is a paucity of research involving youth with muscular dystrophy and congenital myopathies. The objectives of this study are to: (1) measure bullying frequency, (2) describe the types of bullying experiences; and (3) explore barriers and facilitators to dealing with bullying by youth with muscular dystrophy or congenital myopathies and their parents. The objectives will be met by an online survey and qualitative interviews of youth with muscular dystrophy and congenital myopathy and their parents.

This study was planned to investigate the parental influence on physical activity (PA) level and participation in ambulatory children with Duchenne muscular dystrophy (DMD). For this purpose, 30 children with DMD between the ages of 8-18, who were between Levels 1-4 according to the Brooke Lower Extremity Functional Classification (BLEFC), were included in the study. The demographic information of the participants and their detailed information about the disease were recorded. Parents' PA level was assessed via International Physical Activity Questionnaire-Short Form (IPAQ-SF); Children's PA level was assessed via Physical Activity Questionnaire for Children (PAQ-C) and pedometer, participation was assessed via Pediatric Outcomes Data Collection Instrument (PODCI), and parental influence was assessed via Children's Physical Activity Correlates (CPAC). Additionally, children's PA interest was assessed via Children's Attraction to Physical Activity (CAPA). SPSS 25 program was used in the statistical analysis of the evaluation results. The mean age of the individuals included in the study was found to be 8,70±0,84. Parental influence evaluations, positive and weak-moderate correlations were determined between CPAC Questionnaire "Parental Influence" sub-dimension with PAQ-C (r=0,582), CAPA (0,432) and PODCI (r=0,372) (p<0,05). A positive, moderate correlation was found between the PA levels of mothers obtained from IPAQ-SF and PAQ-C (p<0,01). The results of the study show that the parents, especially the mother who is the primary caregiver, can be an important factor to improve the PA levels, increase their attraction to PA and participation in children with DMD.

Facioscapulohumeral muscular dystrophy (FSHD) is a devastating progressive muscle dystrophy. There is no treatment. FSHD is generally characterized by asymmetrical weakness and wasting of facial, shoulder girdle and upper arm muscles followed by weakness of muscles of the trunk and lower extremities, but disease severity varies widely between patients. Relatively long periods of stability are interspersed with short periods of potentially steep decline, leading overall to a slow but unpredictable rate of progression. Different genotypes underlying FSHD have been identified, but they result in highly similar phenotypes and at the molecular level converge on undue expression of the transcription factor, DUX4, in skeletal muscle, which is thought to (ultimately) lead to muscle wasting due to inflammation, apoptosis, and oxidative stress. There is no approved treatment, although various companies are engaged in FSHD drug discovery and development aimed in particular at reducing DUX4 expression. Multiple treatment options are currently under development in both preclinical and early clinical stages. However, these efforts face significant challenges in the path to regulatory approval. Because of the slow and variable rate of progression of FSHD, evidencing a significant treatment response will be cumbersome using only the existing measurements of muscle function. The successful development of these investigative treatments for FSHD is therefore highly dependent on the availability of validated disease and treatment biomarkers to monitor disease progression and response to treatment, respectively. To date, no such validated biomarkers exist. This study is important for four reasons: 1. Clinical testing of FSHD drug candidates requires the availability of clinical biomarkers that (a) change relatively rapidly over time; (b) allow for identification of fast progressors; and (c) correlate with "gold standard", but slowly changing, clinical severity and/or functional scores. This study is a first step in that direction as it seeks to explore if the investigational digital technologies described below are able to generate single or composite variables that (cross-sectionally) distinguish FSHD patients from controls. If identified, such variables will be tested as putative clinical FSHD biomarkers in a follow-up longitudinal study with FSHD patients. 2. Patient testimonies indicate that living with FSHD means living with pain, fatigue, social isolation, and anxiety about the future. This study provides the first-ever opportunity to gather objective, real-world data about the impact of FSHD on daily life. 3. Regulators have already indicated that Real-World Data (RWD) is a top strategic priority for their drug reviews. This study aims to fill this gap by gathering RWD about the physical and social activities of FSHD patients in comparison with controls. This way we aim to find (composite) scores that correlate with selected severity and functional scores and additionally distinguish FSHD patients from controls. 4. This study offers an opportunity to expand the spectrum of diseases in which RWD may be used as (a basis for) clinical outcome measures. A successful outcome of this study may support testing the MORE platform in other muscular dystrophies as well.

Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathic disease that results in progressive degeneration of the oral and pharyngeal muscular, resulting in severe dysphagia and dysarthria. OPMD is considered a rare disease; therefore, limited research is available on the natural progression of the disease or the utility of biomarkers to identify swallowing impairment. The aim of this study is: To identify accurate, reliable and non-invasive clinical markers of swallowing impairment To determine the discriminate ability of these markers to identify impairments in swallow safety and swallowing efficiency.

Investigators recently showed that tadalafil restores functional sympatholysis in patients with Becker muscular dystrophy (BMD). If tadalafil restores functional sympatholysis in BMD via the NO-cyclic guanosine monophosphate pathway, then functional sympatholysis should also be restored by sodium nitrite- which is an indirect nitric oxide donor.

The family of inflammatory/autoimmune systemic diseases (IAD) form a continuum from pure inflammatory diseases to pure autoimmune diseases, encompassing a large panel of inflammatory diseases with some autoimmune components, and vice versa. Cross phenotyping of patients with IAD should be heuristic and help revise the nosography and the understanding of these diseases.

A Quality work was conducted to enable the future construction of a Quality of Life Questionnaire Related to Health (HRQoL) in patients with slowly progressive neuromuscular disease (NMD) as myopathies and muscular dystrophies. The discussion group training is an effective method to perform a thorough investigation of aspects of HRQoL potentially altered by NMD. Patients were recruited in France by 4 reference centers MNMs. All verbal interactions between participants focus groups were recorded. A qualitative analysis of the transcript was performed. The transcript provided 2424 CIF categories. The results helped to identify and quantify aspects of life that are altered by NMDs between patients. A pool of 64 items and a validated questionnaire (the WHOQOLBREF) were thern passed by 159 patients enrolled in eight reference centers MNMs. The investigators constructed a questionnaire called QoLNMD which is composed of two general items and 24 items classified into three areas: (1) \ Impact bodily symptoms, "(2) \ Self-perception" and (3) \ Activity participation. "Each area has good psychometric properties (Cronbach's alpha> 0.77, test-retest ICC> 0.81, H Loevinger> 0.41) and met the assumptions of IRT. the comparison with the WHOQOL-BREF was used to assess similarities and differences with a generic questionnaire. The next step was to validate the QoLNMD reassessing its psychometric properties in a new patient sample and calibrate the IRT measurement system. The purpose of these new part of study was to validate the French version of the QoL-NMD on a confirmatory sample of patients and to calibrate its measurement system. A prospective study in 8 NMD referral centers (France) was conducted. Both the QoL-NMD and a validated generic questionnaire (the WHOQOLBREF) were administered to patients. 156 patients were included for the confirmatory psychometric analysis. All three domains showed adequate psychometric properties and met IRT assumptions. The IRT model calibration was then performed successfully on 315 patients. The French version of the QoL-NMD showed adequate psychometric properties and can be used in rehabilitation services. A conversion table enables easy transformation of sum scores into IRT-calibrated measures. Minimum detectable change tables help interpreting score change.