Clinical trials: Spinal Muscle Atrophy
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
Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1)
Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders
The primary aim is to characterize the prevalence, severity and quality of musculoskeletal nociceptive pain in adult patients with neuromuscular disorders (NMD).
- Conditions
- Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1), Myotonic Dystrophy Type 2, Spinal Muscular Atrophy Type 3
- Trial name
- NCT04907162
- Testing
- Beck depression inventory fast screen, German Pain Inventory, Brief Pain Inventory
- Where
- Germany
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- LMU Klinikum
Spinal Muscular Atrophy Type 3
Long Term Safety of Amifampridine Phosphate in Spinal Muscular Atrophy 3
A long term safety study of amifampridine phosphate in patients with spinal muscular atrophy (SMA) Type 3.
- Trial name
- SMA3 (NCT03819660)
- Testing
- Amifampridine Phosphate 10 MG Oral Tablet
- Where
- Italy
- Volunteers
- 13 people
- Sponsor
- Catalyst Pharmaceuticals, Inc.
Spinal Muscular Atrophy
Newborn Screening for Spinal Muscular Atrophy (SMA) - a Proof of Principle Study Using Anonymised Blood Spots.
Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases.
- Trial name
- NCT05237544
- Where
- United Kingdom
- Volunteers
- 5,065 people, healthy volunteers welcome
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Metastatic Castration Resistant Prostate Cancer
A Study of AC176 for the Treatment of Metastatic Castration Resistant Prostate Cancer
This clinical trial is evaluating a drug called AC176 in Chinese participants with metastatic castration resistant prostate cancer (mCRPC) who have progressed on at least one prior systemic therapy.
- Trial name
- NCT05673109
- Testing
- AC176
- Where
- 5 sites in China
- Volunteers
- 8 people
- Sponsor
- Accutar Biotechnology Inc
Incomplete Spinal Cord Injury, Muscular Dystrophy
Evaluating a New Knee-Ankle-Foot Brace to Improve Gait in Children With Movement Disorders
Background: Cerebral palsy (CP) is the most common motor disorder in children. CP often causes crouch gait, an abnormal way of walking. Knee crouch has many causes, so no single device or approach works best for everybody.
- Conditions
- Incomplete Spinal Cord Injury, Muscular Dystrophy, Spina Bifida, Cerebral Palsy
- Trial name
- NCT01961557
- Testing
- EA-KAFO
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
Breast Cancer
Bicalutamide as A Treatment in AR-positive Metastatic Triple-Negative Breast Cancer (mTNBC) Patients
This prospective, single center, phase II study is to evaluate the efficacy and safety of bicalutamide as a treatment in androgen receptor (AR)-positive metastatic triple-negative breast cancer (mTNBC) patients.
- Trial name
- NCT02348281
- Testing
- Bicalutamide
- Where
- China
- Volunteers
- 1 people
- Sponsor
- Fudan University
Spinal Muscular Atrophy Type II, Spinal Muscular Atrophy Type III Non Ambulant
Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients.
Assess the efficacy and the safety of olesoxime in SMA type 2 or type 3 non ambulant patients aged 3-25 years
- Trial name
- NCT01302600
- Testing
- Olesoxime
- Where
- 22 sites in Belgium, France and 5 more
- Volunteers
- 165 people
- Sponsor
- Hoffmann-La Roche
Spinal Muscular Atrophy, Neuromuscular Diseases
A Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
This trial will study the efficacy and safety of taldefgrobep alfa as an adjunctive therapy for participants who are already taking a stable dose of nusinersen and/or risdiplam and/or have a history of onasemnogene abeparvovec…
- Conditions
- Spinal Muscular Atrophy, Neuromuscular Diseases, SMA
- Trial name
- RESILIENT (NCT05337553)
- Testing
- taldefgrobep alfa
- Where
- 53 sites in United States, Belgium and 7 more
- Volunteers
- 269 people
- Sponsor
- Biohaven Pharmaceuticals, Inc.
Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth
Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers
In recent years, knowledge of neuromuscular diseases has advanced considerably, and new therapeutic avenues are beginning to emerge.
- Conditions
- Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth, Muscular Dystrophy, Myotonic Dystrophy
- Trial name
- Myokinesis (NCT07321977)
- Testing
- Gait analysis via video capture
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
Spinal Muscular Atrophy Type I
Impact of Motor and Oral Motor Function on Quality of Life in Children With SMA
The aim of this study is to investigate the impact of motor and oral motor functions on the quality of life in children aged 2-4 years diagnosed with Spinal Muscular Atrophy (SMA) Type I.
- Trial name
- NCT06864767
- Testing
- Neuro-sensory Motor Developmental Assessment, Functional Oral Intake Scale, Behavioral Pediatrics Feeding Assessment Scale
- Where
- Turkey (Türkiye)
- Volunteers
- 23 people
- Sponsor
- Zeynep HOŞBAY
Spinal Muscular Atrophy (SMA)
Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy
Several factors make the use of celecoxib in human SMA patients appealing including: 1) low-dosing required for potential therapeutic effect (the corresponding dose in humans is much lower than that commonly used in adults and…
- Trial name
- SMA (NCT02876094)
- Testing
- celecoxib
- Where
- Canada
- Volunteers
- 1 people
- Sponsor
- Hugh McMillan
Spinobulbar Muscular Atrophy, Kennedy's Disease
Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy
This is a therapeutic trial study to demonstrate whether Goserelin, a LHRH agonist has benefit in SBMA Objective: 1. To study effects of Goserelin to clinical course of patients with spinal and bulbar muscular atrophy in Thailand…
- Trial name
- NCT00851461
- Testing
- Goserelin, Electrophysiologic study, tissue biopsy
- Where
- Thailand
- Volunteers
- 10 people
- Sponsor
- Ramathibodi Hospital
Spinal Muscular Atrophy 1
Palliative Care in Spinal Muscular Atrophy (SMA) 1
The purpose of this study is to evaluate the quality of supportive and palliative care for SMA type 1 patients.
- Trial name
- ASI1 (NCT01862042)
- Testing
- Follow-up diary and questionnaire
- Where
- France
- Volunteers
- 39 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Spinal Muscular Atrophy
Risdiplam in Patients With Spinal Muscular Atrophy Previously Treated With Nusinersen
Risdiplam Exchange (RISE) is a study of spinal muscular atrophy (SMA) patients who crossover to 36 months of open-label risdiplam monotherapy following a comparable period of nusinersen treatment.
- Trial name
- RISE (NCT05522361)
- Testing
- Risdiplam
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Clinic for Special Children
Spinal and Bulbar Muscular Atrophy
Clinical Trial of Mexiletine Hydrochloride for Spinal and Bulbar Muscular Atrophy
The purpose of this clinical trial is to evaluate the efficacy and safety of mexiletine hydrochloride in patients with spinal and bulbar muscular atrophy.
- Trial name
- Med-SBMA (NCT06862596)
- Testing
- Mexiletine hydrochloride
- Where
- 5 sites in Japan
- Volunteers
- 68 people
- Sponsor
- Masahisa Katsuno
ALS (Amyotrophic Lateral Sclerosis), Postpoliomyelitis Syndrome
Impairments of Neuro-muscular Communication in Motor-Neuron Disease: A Bio-Marker for Early and Personalised Diagnosis
Motor neuron disease (MND) or ALS is a nervous system disease. ALS leads to a loss of movement ability that eventually leads to death. At the moment, there is no known treatment for ALS.
- Conditions
- ALS (Amyotrophic Lateral Sclerosis), Postpoliomyelitis Syndrome, Spinal Muscular Atrophy
- Trial name
- MotorMarker (NCT05663008)
- Testing
- 128 electrode electroencephalography (EEG), Bipolar surface electromyography (sEMG), High-density electromyography (HD-EMG)
- Where
- Ireland
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- University of Dublin, Trinity College
Inclusion Body Myositis (IBM), Motor Neuron Disease, Amyotrophic Lateral Sclerosis
The Aim of the Study is to Characterize Patients Exhibiting Muscular Atrophy and Weakness Who Require a Muscle Biopsy for Diagnosis (IBM vs Atypical MND), Through an Innovative Technique Which Enables the Evaluation of the Neuromuscular Junction Involvement in Each Condition
The aim of the study is to characterize 30 patients exhibiting muscular atrophy and weakness who require a muscle biopsy for diagnosis (suspected inclusion body myopathy vs atypical motor neuron disease), through an innovative…
- Trial name
- TDP-signatures (NCT07796776)
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- IRCCS San Raffaele
Spinal Cord Injuries, Brain Injuries
Pilot Study for Peripheral Neuromuscular Electrical Stimulation of the Quadriceps Muscle
Feasibility study of a new medical device that will evaluate the usability and effectiveness of a cycle ergometer device associated with neuromuscular electrical stimulation (FES cycling).
- Conditions
- Spinal Cord Injuries, Brain Injuries, Muscle Atrophy
- Trial name
- NCT05888714
- Testing
- Experimental FES cycling, Comparator FES cycling, Conventional physical therapy
- Where
- Brazil
- Volunteers
- 15 people
- Sponsor
- University of Sao Paulo General Hospital