Clinical trials: Spinal Muscular Atrophy 1
Spinal Muscular Atrophy Type I, Scoliosis
The Effect of Spinal Orthosis on the Development of Scoliosis and Chest Deformity in Type I Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a serious neuromuscular disease characterized by the degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle atrophy and denervation.
- Conditions
- Spinal Muscular Atrophy Type I, Scoliosis, Chest Deformities, Spinal Orthosis
- Trial name
- NCT05878418
- Testing
- Thoracolumbosacral Spinal Orthosis (TLSO), Trunk Exercise (TE), Pulmonary Rehabilitation(PR) and Pulmonary Care (PC)
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Medipol University
Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease
Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder…
- Conditions
- Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease, Muscular Dystrophy, Spinal Muscular Atrophy With Respiratory Distress 1
- Trial name
- NCT02532244
- Testing
- sample collection
- Where
- 3 sites in United States
- Volunteers
- 230 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Infantile Spinal Muscular Atrophy
Trial Evaluating the Interest of Noninvasive Ventilation in NAVA Mode in Respiratory Decompensations Children With Infantile Spinal Muscular Atrophy Type II
The new NAVA® ventilatory mode with the SERVO-i ventilator (Maquet®) uses the electrical activity of the diaphragm (EADi) as a marker for triggering the respiratory cycle.
- Trial name
- NAVASI (NCT03395795)
- Testing
- NAVA
- Where
- France
- Volunteers
- 1 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Spinal Muscular Atrophy Type I
Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I
The purpose of this study is to identify the maximum tolerated dosage of sodium phenylbutyrate in children with spinal muscular atrophy type I; and to determine if the drug has an effect on SMN mRNA and protein levels.
- Trial name
- NPTUNE 02 (NCT00439218)
- Testing
- sodium phenylbutyrate
- Where
- 5 sites in United States
- Volunteers
- 5 people
- Sponsor
- Westat
Infantile Spinal Muscular Atrophy, Type I [Werdnig- Hoffman]
Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease of motor neurons. In the early 1980s, Werdnig from Vienna University and Hoffman from Heidelberg University described this disorder.
- Trial name
- NCT02855112
- Testing
- Adipose derived mesenchymal stem cell
- Where
- Iran
- Volunteers
- 10 people
- Sponsor
- Tehran University of Medical Sciences
Spinal Muscular Atrophy 1
Exploring Lived Experiences of Families of Children With Spinal Muscular Atrophy(SMA) Type 1 Regarding Feeding and Communication
Spinal Muscular Atrophy Type 1 (SMA )Type 1 is a severe, early-onset neuromuscular condition that typically leads to profound weakness and impaired bulbar function-affecting swallowing, feeding, speech, and airway protection.
- Trial name
- NCT07596277
- Where
- United Kingdom
- Volunteers
- 15 people
- Sponsor
- Guy's and St Thomas' NHS Foundation Trust
Spinal Muscular Atrophy Type I
CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I
This is a multi-center trial to test safety and evaluate early treatment intervention with valproic acid and carnitine in moderating SMA symptoms of Type I infants.
- Trial name
- NCT00661453
- Testing
- Valproic Acid and Levocarnitine
- Where
- 8 sites in United States, Canada and 1 more
- Volunteers
- 40 people
- Sponsor
- University of Utah
SMA
Single-Dose Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1
Phase 3, open-label, single-arm, single-dose, trial of onasemnogene abeparvovec-xioi (gene replacement therapy) in patients with spinal muscular atrophy (SMA) Type 1 who meet enrollment criteria and are genetically defined by a…
- Trial name
- STRIVE-EU (NCT03461289)
- Testing
- Onasemnogene Abeparvovec-xioi
- Where
- 10 sites in Belgium, France and 2 more
- Volunteers
- 33 people
- Sponsor
- Novartis Gene Therapies
Muscular Atrophy, Spinal
A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients
The objectives of this trial are: to establish a safety profile for use of Hydroxyurea in children with Type I Spinal Muscular Atrophy; to identify reliable outcome measures for HU treatment in Type I SMA; and to detect the…
- Trial name
- NCT00568698
- Testing
- Hydroxyurea
- Where
- United States
- Volunteers
- 29 people
- Sponsor
- Stanford University
Spinal Muscular Atrophy Type I, Spinal Muscular Atrophy Type II
Body Weight Support Harness System in Spinal Muscular Atrophy
The goal of this pilot interventional study is to learn about the use of an in-home harness system in children who have been treated for spinal muscular atrophy. The main questions it aims to answer are: 1.
- Trial name
- NCT05715749
- Testing
- In-home body weight support harness system
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Nationwide Children's Hospital
Spinal Muscular Atrophy
Longitudinal Data Collection in Pediatric and Adult Patients With Spinal Muscular Atrophy in Latin America
The natural history of SMA patients has changed, due to the improvements in treatment and technological advances. The systematic collection of data from routine clinical practice in multiple Latin American countries, harmonized…
- Trial name
- RegistrAME (NCT05475691)
- Where
- 18 sites in Argentina, Brazil and 4 more
- Volunteers
- 361 people
- Sponsor
- Hospital Israelita Albert Einstein