Clinical trials: Spinal Muscular Atrophy (SMA)
SBMA, Spinal and Bulbar Muscular Atrophy (SBMA)
International SBMA Project (KDA)
This project aims at: connecting the existing registries and databases across different countries by comparing the information collected, the administered scales, the biochemical investigations performed; performing a common…
- Trial name
- KDA (NCT07443449)
- Where
- Italy
- Volunteers
- 700 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Spinal Muscular Atrophy, Muscular Dystrophy
National Registry for Egyptian Pediatric Neuromuscular Diseases
Our aim is to establish multi-center national Egyptian database of information for inherited and acquired neuromuscular diseases in infants and children from 0 to 18 years of age.
- Conditions
- Spinal Muscular Atrophy, Muscular Dystrophy, Muscle Diseases, Myasthenic Syndromes
- Trial name
- NCT02124616
- Where
- Egypt
- Volunteers
- 200 people
- Sponsor
- Ain Shams University
Amyotrophic Lateral Sclerosis, Progressive Muscular Atrophy
A Patient Centric Motor Neuron Disease Activities of Daily Living Scale
The purpose of this study is to learn about rates of patient-reported disease progression in patients with motor neuron diseases (amyotrophic lateral sclerosis, progressive muscular atrophy, primary lateral sclerosis, hereditary…
- Conditions
- Amyotrophic Lateral Sclerosis, Progressive Muscular Atrophy, Primary Lateral Sclerosis, Hereditary Spastic Paraplegia
- Trial name
- NCT02852278
- Testing
- Web-based Survey
- Volunteers
- 410 people
- Sponsor
- University of South Florida
Cystinosis, Cystinosis, Nephropathic
Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy
Newborn screening in Germany is a voluntary program. Cystinosis and spinal muscular atrophy (SMA) are rare autosomal recessive diseases. They are inherited in an autosomal recessive manner, i.e.
- Conditions
- Cystinosis, Cystinosis, Nephropathic, Spinal Muscular Atrophy
- Trial name
- GENESIS1 (NCT06027385)
- Testing
- molecular-based screening
- Where
- 4 sites in Germany
- Volunteers
- 300,000 people
- Sponsor
- Cystinose Stiftung
Motor Neuron Disease
A Study to Assess FLX-787 in Subjects With Motor Neuron Disease Experiencing Muscle Cramps.
The COMMEND Study will assess the safety and effectiveness of FLX-787 in men and women with Motor Neuron Disease [including Amyotrophic Lateral Sclerosis (ALS), Primary Lateral Sclerosis (PLS) or Progressive Muscular Atrophy…
- Trial name
- NCT03196375
- Testing
- FLX-787-ODT (orally disintegrating tablet)
- Where
- 35 sites in United States
- Volunteers
- 54 people
- Sponsor
- Flex Pharma, Inc.
Spinal Muscular Atrophy Type I
Clinical Trial to Assess the Safety and Efficacy of EXG001-307 in Patients with Spinal Muscular Atrophy Type 1
The purpose of this trial is to evaluate safety and efficacy of intravenous delivery of EXG001-307 as a treatment of spinal muscular atrophy Type 1 (SMN1).
- Trial name
- NCT05614531
- Testing
- EXG001-307 injection
- Where
- 2 sites in China
- Volunteers
- 12 people
- Sponsor
- Guangzhou Jiayin Biotech Ltd
Fertility Issues
Assessing the Fertility Status of Men With Spinal Muscular Atrophy (SMA)
This study will aim to assess the fertility status of men with Spinal Muscular Atrophy (SMA) not on disease-modifying therapies. Participants will: 1.
- Trial name
- NCT06194539
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- Bar-Chama, Natan, M.D.
Small Cell Neuroendocrine Carcinoma, Prostate Cancer
Apalutamide Plus Cetrelimab in Patients With Treatment-Emergent Small Cell Neuroendocrine Prostate Cancer
Despite the low androgen receptor (AR) transcriptional activity of treatment-emergent small cell neuroendocrine prostate cancer, there is persistent AR expression observed in the majority of treatment-emergent small-cell…
- Conditions
- Small Cell Neuroendocrine Carcinoma, Prostate Cancer, Small Cell Carcinoma
- Trial name
- NCT04926181
- Testing
- Apalutamide, Cetrelimab
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Rahul Aggarwal
Spinal and Bulbar Muscular Atrophy, Kennedy's Disease
A Study of NIDO-361 in Patients With SBMA
The purpose of this study is to evaluate the safety, tolerability, and efficacy of NIDO-361 in adult patients with Spinal and Bulbar Muscular Atrophy (SBMA).
- Trial name
- PIONEER KD (NCT06411912)
- Testing
- NIDO-361
- Where
- 5 sites in Denmark, Italy and 2 more
- Volunteers
- 54 people
- Sponsor
- Nido Biosciences, Inc.
Spinal Muscular Atrophy
A Long-term Follow-up Study Evaluating Intravenous Injection of EXG001-307 in Patients With Type 1 SMA
An Open-label, Long-term Follow-Up Study to Evaluate the Safety and Tolerability of Gene Therapy with EXG001-307 in SMA1 patients ,who joined the parent study (EXG001-307-102)
- Trial name
- NCT06588803
- Testing
- No intervention, only for observational studies
- Where
- China
- Volunteers
- 18 people
- Sponsor
- Guangzhou Jiayin Biotech Ltd
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma.
- Conditions
- Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease, Cystic Fibrosis, Fragile X Syndrome
- Trial name
- DANNIgene (NCT06147414)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 550 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Spinal Muscular Atrophy Type 2
GCB-001 in Treatment of Patients With Type II (SMA) Spinal Muscular Atrophy
This study explored dose escalation of single-arm, open, single intrathecal injection in patients with delayed onset type 2 SMA. The investigator plans to conduct 2 cohorts.
- Trial name
- GITOPWTSMA (NCT06772402)
- Testing
- GCB-001
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Genecombio Ltd.
Spinal Muscular Atrophy
A Study to Assess the Clinical Validity of Konectom™ in Adults Living With Neuromuscular Disorders
The primary objective of the study is to explore the convergent validity of smartphone-based Konectom DOAs against in-clinic standard assessments.
- Trial name
- DigiNOA (NCT05109637)
- Testing
- Konectom NMD Application
- Where
- 5 sites in Germany
- Volunteers
- 93 people
- Sponsor
- Biogen
Spinal Muscular Atrophy
Safety and Efficacy of NMD670 in Ambulatory Adult Patients With Type 3 Spinal Muscular Atrophy
The purpose of this study is to evaluate the efficacy, safety, tolerability and pharmacokinetics of NMD670 in the treatment of ambulatory adults with spinal muscular atrophy type 3
- Trial name
- SYNAPSE-SMA (NCT05794139)
- Testing
- NMD670
- Where
- 25 sites in United States, Belgium and 6 more
- Volunteers
- 52 people
- Sponsor
- NMD Pharma A/S
Neuromuscular Diseases, Cerebral Palsy
Rehabilitative Effect of the Use of a Gait Exoskeleton in Patients With Neuromuscular Disease or Cerebral Palsy
The purpose of this multicentric study is to assess the rehabilitative effect derived from the use of the ATLAS exoskeleton in children with neuromuscular diseases or cerebral palsy and with a level of less than 3 or less in the…
- Conditions
- Neuromuscular Diseases, Cerebral Palsy, SMA II
- Trial name
- NCT04813601
- Testing
- ATLAS 2030
- Where
- Spain
- Volunteers
- 10 people
- Sponsor
- MarsiBionics
Distal Hereditary Motor Neuropathy, Type II, Distal Hereditary Motor Neuropathy, Type V
Muscle Structure, Function and Gait in dHMN
Distal Hereditary Motor Neuropathy (dHMN) is a rare inherited neuromuscular disorder. It is characterised by distal weakness. The condition usually manifests in the second decade of life and progresses slowly.
- Conditions
- Distal Hereditary Motor Neuropathy, Type II, Distal Hereditary Motor Neuropathy, Type V, Distal Hereditary Motor Neuronopathy Type I, Distal Hereditary Motor Neuronopathy Type VI
- Trial name
- GAIT-dHMN (NCT04193228)
- Testing
- Carbon Fibre Ankle Foot Orthosis, Exercise
- Where
- United Kingdom
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- University College London Hospitals
Spinal Muscular Atrophy (SMA)
Advanced Multi-omics and -System Approaches to Identify Novel Biomarkers for SMA
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by mutations in the SMN1 gene, leading to motor neuron degeneration and progressive muscle atrophy.
- Trial name
- MOSAiC-SMA (NCT07883655)
- Where
- 3 sites in Italy
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Istituto Giannina Gaslini
Spinal Muscular Atrophy Type 3, Ambulatory Spinal Muscular Atrophy
Gait and Bone Health in SMA
The objective of this study is to understand how spatiotemporal and kinetic gait parameters are associated with bone health in pwSMA who are receiving DMT.
- Trial name
- NCT07400198
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Jacqueline Montes
Muscular Atrophy, Spinal, Type II, Muscular Atrophy, Spinal, Type III
Home Monitoring of Adult Patients With SMA: a Pilot Multicenter Validation Study
There is no complete cure for SMA yet. However, the discovery of the genetic cause of SMA has led to the development of several treatment options that affect the genes involved in SMA - a gene replacement therapy called…
- Trial name
- SMA-AtHome (NCT05839145)
- Testing
- Strength force measurment, Time tests, Motor scales
- Where
- 6 sites in France
- Volunteers
- 60 people
- Sponsor
- Institut de Myologie, France
Spinal Muscular Atrophy
A Study of Risdiplam (RO7034067) in Adult and Pediatric Participants With Spinal Muscular Atrophy
This is a multi-center, exploratory, non-comparative, and open-label study to investigate the safety, tolerability, PK, and PK/PD relationship of risdiplam in adults, children and infants with Spinal Muscular Atrophy (SMA)…
- Trial name
- Jewelfish (NCT03032172)
- Testing
- Risdiplam
- Where
- 24 sites in United States, Belgium and 7 more
- Volunteers
- 174 people
- Sponsor
- Hoffmann-La Roche