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Active clinical trials for "Muscular Dystrophy, Facioscapulohumeral"

Results 11-20 of 57

New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography....

FSHD

Facioscapulohumeral Muscular Dystrophy (FSHD) is one of the most frequent muscular dystrophies in the adulthood. Multi-spectral optoacoustic tomography (MSOT) is an innovative imaging technique able to non-invasively characterize the molecular composition of the muscle tissue. With this pilot study we will explore the performance of MSOT imaging in FSHD patients and correlate the findings with clinical and MRI data, with the final aim to identify new disease biomarkers.

Recruiting5 enrollment criteria

Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in...

Developmental DisabilityIntellectual Disability4 more

The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system. SVs are a type of genetic alternation that includes deletions, duplications, and both balanced and unbalanced rearrangements (ex: inversions or translocations), as well as specific repeat expansions and contractions. The results of OGM analysis will be compared to prior clinical genetic test results to determine how OGM compares to current standard of care (SOC) clinical test methods such as chromosomal microarray analysis (CMA), karyotyping, Southern blot analysis, polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH), and/or next generation sequencing (NGS), etc.

Recruiting4 enrollment criteria

The Risk of Falls Index for Patients With Neuromuscular Disorders

Inclusion Body MyositisMyotonic Dystrophy4 more

The combination of short quantitatively assessing muscular function and balance in combination with short clinical scores, can be a new valid approach to evaluate the patient risk of fall and help to create a quick checkup test to prescribe an appropriate assistive device. The primary goal of this project is to provide a short battery of clinical assessments used to determine risk of falling for patients with neuromuscular diseases (NMD) based on correlation between clinical assessments between two groups of NMD patients and scales used to assess risk of falling for patients.

Recruiting4 enrollment criteria

Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)

FSHD

The primary goal of this proposal is to collect motor and functional outcomes specific to FSHD over time. By collecting measures specific to FSHD, this will help ensure the best level of clinical care is being provided. Also, the hope is to speed up drug development by gaining a better understanding of how having FSHD impacts motor function and other health outcomes (i.e. breathing, wheelchair use, etc.) and how big a change in motor function would be clinically meaningful to those with FSHD. Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD) will have approximately 450 FSHD participants followed for a minimum of 3 years. A subset of MOVE FSHD participants, approximately 200, will participate in the MOVE+ sub-study which includes whole body MRI and muscle biopsy.

Recruiting3 enrollment criteria

Biomarker Development for Muscular Dystrophies

Myotonic DystrophyDuchenne Muscular Dystrophy2 more

Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.

Recruiting9 enrollment criteria

Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

Myotonic DystrophyFacioscapulohumeral Muscular Dystrophy7 more

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their diseases. The registry will also help scientists to accomplish research on DM and FSHD and to distribute their findings to patients and care providers.

Recruiting2 enrollment criteria

The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry

Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral Dystrophy (FSHD) is the third most common form of neuromuscular dystrophy worldwide with an estimated prevalence of one in 20,000. FSHD is an autosomal dominant genetic disease and is estimated to affect up to 3,000 people in the UK. The aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease in the UK. By maintaining a national registry this will help identify potential participants eligible for clinical trials in the future.

Recruiting2 enrollment criteria

A Registered Cohort Study on FSHD1

Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)

The data to be collected is intended to help healthcare providers make important medical and financial decisions concerning FSHD1, through an enhanced understanding of the prevalence, progression and natural history of FSHD1.

Recruiting6 enrollment criteria

FSHD Molecular Characterization

Facio-Scapulo-Humeral Dystrophy

To characterize the clinical and molecular phenotype of FSHD.

Recruiting4 enrollment criteria

At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious,...

All Diagnosed Health ConditionsADD/ADHD59 more

We are the missing link in clinical trials, connecting patients and researchers seamlessly and conveniently using a mobile health platform to advance medical research. We make it easy for patients to contribute to research for medical conditions that matter most to them, regardless of their location or ability to travel.

Recruiting6 enrollment criteria
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