Clinical trials: SMA
Muscular Atrophy, Spinal
A Study to Investigate the Effect of Hepatic Impairment on the Pharmacokinetics and Safety and Tolerability of a Single Oral Dose of Risdiplam Compared to Matched Healthy Participants With Normal Hepatic Function
This is a multi-center, open-label, non-randomized, parallel-group, 2-part study to evaluate the effect of hepatic impairment on the PK and safety and tolerability of a single oral dose of risdiplam compared to matched healthy…
- Trial name
- NCT03920865
- Testing
- Risdiplam
- Where
- 3 sites in United States
- Volunteers
- 26 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
Spinal Muscular Atrophy
Motor Unit Number Estimation (MUNE) in Adults With Spinal Muscular Atrophy (SMA)
The primary objective of this research protocol is to study and follow the course of motor neuron loss in individuals with spinal muscular atrophy (SMA) using the electrophysiological technique of motor unit number estimation…
- Trial name
- NCT04139343
- Where
- United States
- Volunteers
- 67 people, healthy volunteers welcome
- Sponsor
- Ohio State University
Spinal Muscular Atrophy Type 3, Mitochondrial Myopathy
Oxidative Capacity and Exercise Tolerance in Ambulatory SMA
This proposal will focus on (1) estimating oxidative capacity of specific muscle groups during exercise using near infrared spectroscopy and (2) describing body composition to better understand exercise capacity and mitochondrial…
- Trial name
- NCT02895789
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Columbia University
Libido, Receptors, Androgen
Genetic Polymorphism of the Androgen Receptor-Gene and Sexual Function in Middle Aged Women
It is known that with increasing age sexual desire is declining in women. Decreasing levels of androgens are believed to have an influence, but cannot explain the loss of libido completely.
- Conditions
- Libido, Receptors, Androgen, Polymorphism, Genetic, Androgen Effect
- Trial name
- CAG-Libido (NCT01977313)
- Where
- Switzerland
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Muscle Tone Poor, Spinal Muscular Atrophy
Myotonometer Intra- and Inter Examiner Reliability on Spinal Muscular Atrophy
The primary aim of the study was to measure the intra-rater and inter-rater reliability of MyotonPRO in measuring postural muscle tone and mechanical properties in individuals with spinal muscular atrophy (SMA).
- Trial name
- NCT05521217
- Testing
- MyotonPRO
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Istanbul Medipol University Hospital
Neurodegenerative Disorders
Development of IPS from Donated Somatic Cells of Patients with Neurological Diseases
Human fibroblasts and possibly other human somatic cells may be reprogrammed into induced pluripotent stem (iPS) cells by the forced expression of transcription factors (1-5).
- Trial name
- NCT00874783
- Where
- Israel
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
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
Stuttering, Adult
Investigating the SMA's Role in Speech and Reading Fluency in PWS With rTMS
The goal of this clinical trial is to study how a part of the brain called the supplementary motor area (SMA) is connected to speech and reading fluency in adults who stutter.
- Trial name
- NCT06809387
- Testing
- Brain stimulation
- Where
- Turkey (Türkiye)
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Medipol University
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
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
Motor Neuron Disease, Amyotrophic Lateral Sclerosis, Motor Neuron Disease Progressive Spinal Muscle Atrophy
Non-invasive Spinal, Cortical, and Sensorimotor Biomarkers in Motor Neurone Disease
Substantial variability exists in the onset, and rate of degeneration across individuals with Motor Neurone Disease (MND) or Amyotrophic Lateral Sclerosis (ALS).
- Conditions
- Motor Neuron Disease, Amyotrophic Lateral Sclerosis, Motor Neuron Disease Progressive Spinal Muscle Atrophy, Primary Lateral Sclerosis, Multiple Sclerosis
- Trial name
- NCT06320444
- Testing
- 232 Electrode Electrophysiology (EEG-ECG-EMG-EXG)
- Where
- Ireland
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University of Dublin, Trinity College
Healthy Men Age 50 Who Are Considering PSA Screening
Decision Support Interventions (DESI) for Prostate Cancer Screening - Study 1
In this study we will compare 3 strategies for systematic delivery of prostate cancer screening decision support interventions (DESI) to usual care and examine their impact on screening decisions and subsequent healthcare…
- Trial name
- NCT01241656
- Testing
- DESI for home viewing, DESI for viewing at Shared Medical Appointment, Option of SMA and DESI or DESI only
- Where
- 2 sites in United States
- Volunteers
- 2,521 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Neuromuscular Diseases in Children, Respiratory Function Impaired
Respiratory Functions, Thoracoabdominal Movements and Exercise Capacity in Neuromuscular Diseases
The clinical trial titled "Investigation of Respiratory Functions, Thoracoabdominal Movements, and Exercise Capacity in Neuromuscular Diseases" aims to evaluate the respiratory functions, thoracoabdominal movements, and exercise…
- Conditions
- Neuromuscular Diseases in Children, Respiratory Function Impaired, Respiratory Insufficiency, Duchenne Muscular Dystrophy
- Trial name
- NCT06756633
- Testing
- Respiratory Function Test, Structured light plethysmography, 6 Minute Walking Test
- Where
- Turkey (Türkiye)
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Lokman Hekim University
Healthy Volunteer, Muscular Atrophy, Spinal
A Study to Learn About the Safety of BIIB115 Injections and How BIIB115 is Processed in the Bodies of Healthy Adult Male Volunteers and of Pediatric Participants With Spinal Muscular Atrophy Who Previously Took Onasemnogene Abeparvovec
In this study, researchers will learn about a study drug called BIIB115 in healthy adult male volunteers and in participants with spinal muscular atrophy (SMA). This study will focus on children with SMA.
- Trial name
- NCT05575011
- Testing
- BIIB115
- Where
- 16 sites in Belgium, Canada and 7 more
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Biogen
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
Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis
Answer ALS: Individualized Initiative for ALS Discovery
Creation of a large repository of induced pluripotent stem cells (iPSC), bio-fluid samples (blood and spinal fluid (optional)), and cell lines for ALS gene identification.
- Conditions
- Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis, Flail Arm ALS, Progressive Muscular Atrophy
- Trial name
- AnswerALS (NCT02574390)
- Where
- 8 sites in United States
- Volunteers
- 1,049 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
SMA II, Cerebral Palsy
Paracetamol Study in Patients With Low Muscle Mass
To investigate the safety and toxicity related to paracetamol treatment in children and adults with respectively SMA and CP.
- Trial name
- NCT03648658
- Testing
- Paracetamol 120Mg/5mL Oral Suspension
- Where
- Denmark
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Mette Cathrine Oerngreen
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 and Bulbar Muscular Atrophy, Healthy Subjects
High Intensity Training in Patients With Spinal and Bulbar Muscular Atrophy
We want investigate if high intensity training can increase daily functionality without causing muscle damage in patients Spinal and Bulbar Muscular Atrophy .
- Trial name
- HIT in Kennedy (NCT02156141)
- Testing
- Supervised high intensity training, Optional training, Control period
- Where
- Denmark
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Karen Brorup Heje Pedersen