Clinical trials: Muscular Atrophy, Spinal
Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS
Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
Background: Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene).
- Conditions
- Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS, Tumor Formation in AIS, CAIS, PAIS and MAIS, Sexual Function AIS, CAIS, PAIS and MAIS
- Trial name
- NCT04708431
- Where
- United States
- Volunteers
- 650 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis
Digital Assessment of Speech and Fine Motor Control in ALS
This is a single-session, case-control study that incorporates digital tools for assessing speech and motor function in motor neuron disease.
- Conditions
- Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis, Progressive Muscular Atrophy
- Trial name
- NCT06315673
- Testing
- Digital Speech and Handwriting Assessment
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Milton S. Hershey Medical Center
Spinal Muscular Atrophy
A Drug-drug Interaction Study With Risdiplam Multiple Dose and Midazolam in Healthy Participants
This will be a Phase I, 2-part, open-label, non-randomized study to investigate the safety, tolerability, and pharmacokinetics (PK) of a multiple-dosing regimen of risdiplam (Part 1) and the effect of risdiplam on the PK of…
- Trial name
- NCT03988907
- Testing
- Risdiplam, Midazolam
- Where
- United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Hoffmann-La Roche
Myelomeningocele, Spinal Cord Injury
Reciprocating Gait Orthoses for Paraplegia Patients
Ambulation would bring many physiological and psychological benefits and getting up and walking has been a dream for paraplegia patients.The reciprocating gait orthoses (RGOs) for paraplegics particularly draws research…
- Conditions
- Myelomeningocele, Spinal Cord Injury, Spinal Muscular Atrophy
- Trial name
- UPGO (NCT02227407)
- Testing
- RGOs(reciprocating gait orthoses)
- Where
- Taiwan
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Amyotrophic Lateral Sclerosis, Muscular Dystrophy
Innovative Ultrasound Technology in Neuromuscular Disease
This study is utilizing ultrasound measurement to measure neuromuscular disease status in adult patients. The hypothesis is the by quantifying ultrasound data, it is possible that ultrasound can be utilized as a tool to determine…
- Conditions
- Amyotrophic Lateral Sclerosis, Muscular Dystrophy, Radiculopathy, Myopathy
- Trial name
- AQUIRe (NCT02104921)
- Where
- United States
- Volunteers
- 223 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3
Spinal Cord Stimulation for the Treatment of Motor Deficits in People With Spinal Muscular Atrophy - Upper Limb
Spinal cord stimulation (SCS) has shown remarkable efficacy in restoring motor function in people with spinal cord injury by recruiting afferent input to enhance the responsiveness of spared neural circuits to residual cortical…
- Conditions
- Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3, Spinal Muscular Atrophy Type II, Spinal Muscular Atrophy 4
- Trial name
- NCT06300996
- Testing
- Spinal Cord Stimulator (Octopolar Medtronic Vectris Leads)
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- Marco Capogrosso
Spinal Muscular Atrophy
Identification of a Biomarker Associated With Cis-duplication of the SMN1 Gene
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder characterized by loss of motor neurons in the anterior horn of the spinal cord and leading to muscle atrophy.
- Trial name
- BADGES (NCT02550691)
- Testing
- blood sampling
- Where
- 2 sites in France
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- University Hospital, Rouen
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia
Phenotype, Genotype and Biomarkers 2
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic…
- Conditions
- Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy
- Trial name
- PGB2 (NCT04875416)
- Where
- 4 sites in United States, South Africa
- Volunteers
- 217 people, healthy volunteers welcome
- Sponsor
- University of Miami
Sarcopenic Obesity, Spinal Cord Injuries
Sarcopenic Obesity in Neurodisabilities
To describe the frequency and thresholds for sarcopenic obesity in neurodisabled persons and the fat and lean mass distribution based on various neurodisabilities
- Conditions
- Sarcopenic Obesity, Spinal Cord Injuries, Stroke, Multiple Sclerosis
- Trial name
- SarcObeNDS (NCT03863379)
- Testing
- whole body DXA
- Where
- Greece
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Dionyssiotis, Yannis, M.D.
Spinal and Bulbar Muscular Atrophy, Kennedys Disease
Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)
Background: SBMA is an inherited chronic disease. It affects males in mid to late adulthood. It causes slowly progressive weakness of muscles and hand tremors. Researchers want to learn more about the effects of SBMA.
- Conditions
- Spinal and Bulbar Muscular Atrophy, Kennedys Disease, Motor Neuron Disease
- Trial name
- NCT04944940
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Spinal Muscular Atrophy
A Pilot Study of Biomarkers for Spinal Muscular Atrophy
The goal of this pilot study is to identify a marker or panel of markers in the blood or urine from a wide range of Spinal Muscular Atrophy (SMA) patients that segregates with measures of clinical severity.
- Trial name
- BforSMA (NCT00756821)
- Where
- 18 sites in United States, Canada
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Carelon Research
Cerebral Palsy, Down Syndrome
Investigation of Parents' Anxiety Level and Health Related Quality of Life in Different Types of Physical Disabilities
Disability brings many psychosocial problems in society. The effects of the health of a disabled child on the psychological health and quality of life of the family are inevitable.
- Conditions
- Cerebral Palsy, Down Syndrome, Spina Bifida, Muscular Dystrophy
- Trial name
- NCT04035967
- Testing
- Questionnaire
- Where
- Turkey (Türkiye)
- Volunteers
- 91 people, healthy volunteers welcome
- Sponsor
- Sanko University
Bulbo-Spinal Atrophy, X-Linked, Kennedy Disease
MRI in Patients With Kennedy Disease
Kennedy disease is an inherited neuromuscular disorder that is characterized by progressive muscle wasting and weakness. It typically starts with muscle spasms and tremors in the arms, followed by muscle weakness and atrophy of…
- Trial name
- NCT02501395
- Testing
- No intervention, observational
- Where
- Denmark
- Volunteers
- 53 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Postpoliomyelitis
Brain Physiology in Polio Survivors
OBJECTIVE: Many persons who survive poliomyelitis develop pain, weakness, and fatigue many decades later. It is not known why some persons develop this syndrome and others do not.
- Trial name
- NCT00080600
- Where
- 2 sites in United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Spinal Muscular Atrophy
Mechanisms of Cell Death in Spinal Muscular Atrophy
Spinal muscular atrophy is a genetically based disease that affects motor neurons in the spinal cord and leads to muscle wasting and weakness.
- Trial name
- NCT01754441
- Where
- 2 sites in United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Spinal Muscular Atrophy
A Registered Cohort Study on SMA
Spinal muscular atrophy (SMA) is an autosomal recessive disease that causes progressive muscle wasting and weakness due to loss of motor neurons in the spinal cord.
- Trial name
- NCT04010604
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Wan-Jin Chen
Spinal Muscular Atrophy
Prospective Evaluation of Infants With Spinal Muscular Atrophy:
SPOT SMA is a prospective NIH-supported clinical study targeting pre-symptomatic or recently diagnosed infants and children with Spinal Muscular Atrophy (SMA) types 1, 2, or 3 and their healthy control siblings less than 36…
- Trial name
- SPOTSMA (NCT02831296)
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Spinal Muscular Atrophy, Neonatal Hyperbilirubinemia
Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.
In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal…
- Conditions
- Spinal Muscular Atrophy, Neonatal Hyperbilirubinemia, Colon Cancer
- Trial name
- NCT00154960
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Non Invasive Prenatal Diagnosis
NIPD on CFTC for Triplet Repeat Diseases
The purpose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the…
- Trial name
- DIACCIMEX (NCT03087526)
- Testing
- Non invasive prenatal diagnosis
- Where
- 8 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier