Clinical trials: Spinal Muscular Atrophy
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
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
Spinal Muscular Atrophy
Antisense Oligonucleotide for Spinal Muscular Atrophy
This is a longitudinal, multiple-center, observational study of patients genetically confirmed chromosome 5q SMA to monitor the efficacy, safety, tolerability of SPINRAZA® (nusinersen) for up to 24 months.
- Trial name
- NCT05187260
- Testing
- Nusinersen
- Where
- 3 sites in China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- First Affiliated Hospital of Fujian Medical University
Spinal Muscular Atrophy, Duchenne Muscular Dystrophy
Public AttitudesTowards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices
The addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial. In this study, researchers aim to measure the awareness level of SMA and DMD muscle diseases of individuals…
- Conditions
- Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Healthy Individuals
- Trial name
- NCT05110885
- Testing
- Questionnaire
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Bahçeşehir University
Spinal Muscular Atrophy
Characterization of the Clinical-epidemiological Profile of Patients With SMA5q Types II and III: Observational Study
This study aims to characterize the clinical-epidemiological profile and baseline characteristics of patients with spinal muscular atrophy (SMA) 5q types II and III in follow-up at the Brazilian Unified Public Health System…
- Trial name
- NCT04404764
- Testing
- Nusinersen Injectable Product
- Where
- 9 sites in Brazil
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- Hospital Israelita Albert Einstein
Spinal Muscular Atrophy
Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women
Spinal muscular atrophy (SMA) prenatal carrier screening is recommended by American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG).
- Trial name
- NCT04859179
- Where
- Thailand
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Mahidol University
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
Muscular Diseases, Spinal Muscular Atrophy
New Imaging Biomarkers for Muscular Diseases - Multispectral Optoacoustic Imaging in Spinal Muscular Atrophy
This study aims to refine the capability of MSOT to characterise muscle tissue and to determine non-invasive, quantitative biomarkers for the disease assessment in patients with spinal muscular atrophy (SMA) using Multispectral…
- Trial name
- MSOT_SMA (NCT04115475)
- Testing
- Multispectral Optoacoustic Tomography (MSOT)
- Where
- Germany
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Erlangen-Nürnberg Medical School
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
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
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
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
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
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, Merosin Deficient Congenital Muscular Dystrophy
Fat and Glucose Metabolism in Fed and Fasted State in Patients With Low Skeletal Muscle Mass
In a study from 2003 the investigators showed that adult patients with very low skeletal muscle mass (spinal muscular atrophy (SMA) type II, Duchenne muscular dystrophy, congenital muscular dystrophy) are prone to develop…
- Trial name
- NCT03970135
- Testing
- Fasting
- Where
- Denmark
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Spinal Muscular Atrophy, Neuromuscular Disorders
Study of Feasibility to Reliably Measure Functional Abilities' Changes in Nonambulant Neuromuscular Patients Without Trial Site Visiting
Clinical trials organization in several neuromuscular disorders (NMD) has some specific issues. Nonambulant status and difficulties with transportation are among them.
- Trial name
- NCT02235090
- Testing
- Direct current stimulation of cervical spinal cord
- Where
- Ukraine
- Volunteers
- healthy volunteers welcome
- Sponsor
- Charitable Foundation Children with Spinal Muscular Atrophy
Spinal Muscular Atrophy
A Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Risdiplam (RO7034067) Given by Mouth in Healthy Volunteers
The objective of this study is to assess the safety and tolerability of Risdiplam (RO7034067) in healthy people. The study will assess what the body does to Risdiplam (RO7034067) and what Risdiplam (RO7034067) does to the body.
- Trial name
- NCT02633709
- Testing
- Itraconazole, Risdiplam
- Where
- Netherlands
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- Hoffmann-La Roche
Spinal Muscular Atrophy (SMA)
Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development
Spinal muscular atrophy (SMA) is the leading genetic cause of death of infants. Strong preclinical evidence suggests that effective therapy must be delivered as early as possible to prevent progression of the disease.
- Trial name
- NCT01736553
- Where
- 15 sites in United States
- Volunteers
- 53 people, healthy volunteers welcome
- Sponsor
- Ohio State University
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
Healthy Volunteer, Muscular Atrophy, Spinal
Ability of Muscle Imaging and Motor Function Measure (MFM) to Detect Changes in Disease Progression in Ambulant Spinal Muscular Atrophy Patients Compared to Healthy Volunteers.
This non-drug, single center, 24-week, longitudinal study in ambulant spinal muscular atrophy (SMA) patients and in age- and gender-matched healthy volunteers will assess the detection of disease progression by magnetic resonance…
- Trial name
- NCT02044029
- Where
- Switzerland
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Hoffmann-La Roche