Clinical trials: Inherited Neuromuscular Conditions
Fabry Disease, Neuropathic Pain
Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry Disease
The purpose of this study is to determine efficacy of gabapentin vs. placebo at controlling peripheral neuropathic pain in patients with Fabry disease, and reducing their use of opioid analgesics.
- Trial name
- NCT01588314
- Testing
- Gabapentin
- Where
- United States
- Sponsor
- University of Minnesota
Andersen-Tawil Syndrome, Andersen Syndrome
Characteristics of Andersen-Tawil Syndrome
Andersen-Tawil Syndrome (ATS) is a rare, genetic disorder that causes episodes of muscle weakness, potentially life-threatening changes in heart rhythm, and developmental abnormalities.
- Trial name
- NCT00521794
- Where
- 7 sites in United States, Canada and 2 more
- Volunteers
- 28 people
- Sponsor
- University of Rochester
Hypothyroidism, Global Developmental Delay
Register for Patients With Thyroid Hormone Resistance.
Thyroid hormones (TH) play a pivotal role in the development and function of the mammalian brain. Patients with impaired thyroid hormone transport into the brain tissue or in the case of defective local thyroid hormone receptor…
- Conditions
- Hypothyroidism, Global Developmental Delay, Intellectual Disability, Dystonia
- Trial name
- DEEPTYPE (NCT06566066)
- Testing
- no intervention
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Charite University, Berlin, Germany
Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM)
AI-enabled Screening and Diagnosis of Cardiomyopathies Using Coronary CTA
The goal of this observational and diagnostic study is to develop and validate an artificial intelligence assisted approach for coronary computer tomography angiography-(CCTA)-based screening and diagnosis of cardiomyopathies in…
- Conditions
- Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Restrictive Cardiomyopathy
- Trial name
- Atlantis (NCT06748261)
- Testing
- CCTAI model
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Shanghai Zhongshan Hospital
Metastatic Squamous Neck Cancer With Occult Primary Squamous Cell Carcinoma
SF1126 in Recurrent or Progressive SCCHN and Mutations in PIK3CA Gene and/or PI-3 Kinase Pathway Genes
The purpose of this study is to test the good and bad effects of an experimental drug called SF1126. This drug is being tested in patients whose cancer has not been controlled by available standard therapies and who have certain…
- Trial name
- NCT02644122
- Testing
- SF1126
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Ezra Cohen
Duchenne or Severe Becker Myopathy
IRM Cardiaque en Respiration Libre Pour Des Patients Atteints de Dystrophinopathie sévère
Clinical, prospective and monocentric study aiming at assessing the feasibility of fibrosis detection and quantification (and of function assessment) during MRI without breath-holds in a population of adults and children with…
- Trial name
- NCT02078076
- Testing
- Magnetic Resonance Cardiac Imaging (with Gadolinium)
- Where
- France
- Volunteers
- 22 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Duchene Muscular Dystrophy
A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy
This is a prospective observational study conducted to evaluate safety, tolerability, and functional outcomes of patients with DMD newly initiating oral givinostat or having started therapy within 6 months as part of routine…
- Trial name
- PROVIDUS (NCT07127978)
- Where
- 9 sites in United States
- Volunteers
- 300 people
- Sponsor
- ITF Therapeutics LLC
Low Back Pain, Nerve Entrapment Syndrome
Ultrasound Localization and Guided Injection for Superior Cluneal Nerve Entrapment
Low back pain (LBP) is a common complaint in the clinical setting. Among all the differential diagnosis for LBP, superior cluneal nerve (SCN) entrapment is the commonly omitted one.
- Trial name
- NCT04478344
- Testing
- Ultrasound guided hydrodissection of superior cluneal nerve
- Where
- Taiwan
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Chronic Pain, Fibromyalgia
Effects of Fasting on Self Efficacy
The study aims to investigate if a 7 day therapeutic fasting regimen will affect self-efficacy of patients with chronic diseases the effects of fasting on physical and mental well-being, quality of life and body awareness/image…
- Conditions
- Chronic Pain, Fibromyalgia, Rheumatoid Arthritis, Gout
- Trial name
- TheraFast (NCT02113111)
- Testing
- Fasting
- Where
- Germany
- Volunteers
- 120 people
- Sponsor
- Universität Duisburg-Essen
Muscle Weakness
Effect of PROGRESSive Training and Teststerone in Older Frail Men
In this scientific clinical investigation we will test whether testosterone and progressive resistance training can improve muscle strength and reduce the risk of falls in older men.
- Trial name
- PROGRESS (NCT02873559)
- Testing
- testosterone, Progressive muscle training
- Where
- 2 sites in Denmark
- Volunteers
- 192 people, healthy volunteers welcome
- Sponsor
- University Hospital, Gentofte, Copenhagen
Overactive Bladder
Urinary Neurotrophin Levels in Healthy Children
The aim of this study is to analyse urinary neurotrophin levels in healthy children. Urine samples will be collected at 3 different times of day (morning, noon, and evening) at urge sensation from all age groups of children who…
- Trial name
- NCT02389270
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Zagreb
Myotonic Dystrophy
DM1 Heart Registry - DM1 Respiratory Registry
Myotonic dystrophy type 1 (DM1) is the most frequent neuromuscular disease in adults. DM1 patients have an impaired prognosis (mean age of death <60 years) due to cardiac and respiratory complications.
- Trial name
- DM1-Heart-R (NCT01136330)
- Where
- France
- Volunteers
- 914 people
- Sponsor
- Institut de Myologie, France
Progeria
Clinical Studies of Progeria
This study will examine children with Hutchinson-Gilford Progeria syndrome, a genetic disease that causes many changes to the body over time, including heart disease, bone changes, hair loss, and joint and skin changes.
- Trial name
- NCT00094393
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Duchenne Muscular Dystrophy (DMD)
Glucagon-Like Peptide-1 Receptor Agonists to Attenuate Metabolic Risk in Individuals With Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a rare, genetic disease that leads to muscle weakness, breathing difficulties, heart disease, and early death.
- Trial name
- NCT07642635
- Testing
- Semaglutide (Rybelsus®)
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Vanderbilt University Medical Center
Neurofibromatosis Type 1 (NF1), NF2-related Schwannomatosis
How Can the Experience of Hospital Outpatient Departments be Improved?
This project aims to improve outpatient departments by working with patients and staff to make these spaces more inclusive for people with sensory challenges (it focuses on people with nerve tumour conditions as they are more…
- Trial name
- NCT07818213
- Testing
- Qualitative data collection activities
- Where
- United Kingdom
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- King's College London
Muscular Dystrophies
Study of Albuterol and Oxandrolone in Patients With Facioscapulohumeral Dystrophy (FSHD)
This is a study to determine whether albuterol or oxandrolone, alone or in combination, are able to increase strength and muscle mass in patients with FSHD.
- Trial name
- NCT00027391
- Testing
- Albuterol, Oxandrolone
- Where
- United States
- Volunteers
- 160 people
- Sponsor
- FDA Office of Orphan Products Development
Chronic Inflammatory Demyelinating Polyneuropathy, Charcot-Marie-Tooth Disease, Type IA
Quantification of Nerve Stiffness in Neuropathies
This project aims to understand how nerve mechanical properties are altered in patients with rare peripheral neuropathies . Stiffness of various peripheral nerves will be measured using ultrasound shear wave elastography.
- Conditions
- Chronic Inflammatory Demyelinating Polyneuropathy, Charcot-Marie-Tooth Disease, Type IA, Anti-MAG Neuropathy
- Trial name
- Nerf_SSI (NCT03397303)
- Testing
- elastography measurements
- Where
- France
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital