Clinical trials: Inherited Neuromuscular Conditions
Duchenne Muscular Dystrophy
Tele-assessment of Functional Performance and Quality of Life in Patients With Duchenne Muscular Dystrophy: Validity and Reliability Study
Thanks to tele-assessment methods, it may be possible to evaluate DMD patients without traveling to clinical centers. In recent years, the applicability of remote assessment methods in DMD patients, as in many populations, is…
- Trial name
- NCT06295718
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people
- Sponsor
- Sahra Şirvan
Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM)
AI-enabled Screening and Diagnosis of Cardiomyopathies Using Coronary CTA
The goal of this observational and diagnostic study is to develop and validate an artificial intelligence assisted approach for coronary computer tomography angiography-(CCTA)-based screening and diagnosis of cardiomyopathies in…
- Conditions
- Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Restrictive Cardiomyopathy
- Trial name
- Atlantis (NCT06748261)
- Testing
- CCTAI model
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Shanghai Zhongshan Hospital
Gait Impairment, Cerebral Palsy (CP)
Clinical Investigation to Validate the Safety and Performance of the ABLE Kids Device in Pediatric Patients With Neurological Gait Disorders in a Clinical Setting
The primary objective of the study is to validate the safety and clinical performance of the ABLE Kids device in pediatric patients with neurological gait disorders or muscular weakness during a 10-session gait training program…
- Conditions
- Gait Impairment, Cerebral Palsy (CP), Neuromuscular Diseases (NMD), Spinal Cord Injuries (SCI)
- Trial name
- NCT07745712
- Testing
- ABLE Kids
- Where
- Spain
- Volunteers
- 15 people
- Sponsor
- ABLE Human Motion S.L.
Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3
Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam
This Phase 3 trial (Study SRK-015-003) was conducted in patients ≥2 years old at Screening, who were previously diagnosed with later-onset spinal muscular atrophy (SMA) (i.e., Type 2 and Type 3 SMA) and were receiving an approved…
- Conditions
- Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3, Spinal Muscular Atrophy Type 2, SMA
- Trial name
- SAPPHIRE (NCT05156320)
- Testing
- Apitegromab
- Where
- 50 sites in United States, Belgium and 7 more
- Volunteers
- 188 people
- Sponsor
- Scholar Rock, Inc.
Tumor, Tumor, Solid
Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)
A Phase 2 multi-center open-label basket trial of nab-sirolimus for adult and adolescent patients with malignant solid tumors harboring pathogenic inactivating alterations in TSC1 or TSC2 genes
- Conditions
- Tumor, Tumor, Solid, Metastasis, Metastatic Cancer
- Trial name
- NCT05103358
- Testing
- nab-sirolimus
- Where
- 166 sites in United States, Puerto Rico and 1 more
- Volunteers
- 128 people
- Sponsor
- Aadi Bioscience, Inc.
Neurofibromatosis Type 1, Precancerous Condition
Fludeoxyglucose F 18 Positron Emission Tomography and Magnetic Resonance Perfusion Imaging in Patients With Neurofibromatosis 1 and Plexiform Neurofibroma
RATIONALE: New imaging procedures such as fludeoxyglucose F 18 positron emission tomography (FDG-PET) and magnetic resonance (MR) perfusion imaging may improve the ability to detect disease progression, help doctors predict a…
- Trial name
- NCT00060008
- Testing
- fludeoxyglucose F 18, gadopentetate dimeglumine
- Where
- 2 sites in United States
- Volunteers
- 18 people
- Sponsor
- Children's Hospital of Philadelphia
Epilepsy; Seizure, Neuromuscular Diseases
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family…
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability
- Trial name
- NCGENES2 (NCT03548779)
- Testing
- Pre-visit prep, usual care + exome seq
- Where
- 3 sites in United States
- Volunteers
- 548 people
- Sponsor
- University of North Carolina, Chapel Hill
Autosomal Dominant Hypocalcemia (ADH)
Efficacy and Safety of Encaleret Compared to Standard of Care in Participants With ADH1
The primary purpose of the study is to understand the effectiveness, safety, and tolerability of encaleret when compared to standard of care (SoC) treatment in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1).
- Trial name
- CALIBRATE (NCT05680818)
- Testing
- Encaleret, Standard of Care
- Where
- 25 sites in United States, Australia and 8 more
- Volunteers
- 67 people
- Sponsor
- Calcilytix Therapeutics, Inc., a BridgeBio company
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
Muscle Hypotonia, Down Syndrome
Assessment of Hypotonia in Children With Down Syndrome
Hypotonia is a common trait in infants with Down syndrome, resulting in pathologies and delays in gaining basic motor skills. There are no screenings available to aid in early diagnosis, therefore, the purpose of this study is to…
- Conditions
- Muscle Hypotonia, Down Syndrome, Muscle, Floppy, CHILD Syndrome
- Trial name
- NCT05131542
- Where
- Spain
- Volunteers
- 50 people
- Sponsor
- Universidad de Murcia
Duchenne Muscular Dystrophy, Duchenne Disease
Evaluating VM100 Nutritional Supplement for Improving Quality of Life in Duchenne Muscular Dystrophy Patients
This pilot study will investigate the potential efficacy of VM100, a nutritional supplement specifically formulated for patients with DMD, on quality of life and physical symptoms.
- Conditions
- Duchenne Muscular Dystrophy, Duchenne Disease, Muscular Dystrophy in Children, DMD
- Trial name
- NCT07766980
- Testing
- VM100 Nutritional Supplement
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Florida
Neuromuscular; Disorder, Hereditary, Duchenne/Becker Muscular Dystrophy
Molecular Analysis of Patients With Neuromuscular Disease
The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members.
- Conditions
- Neuromuscular; Disorder, Hereditary, Duchenne/Becker Muscular Dystrophy, Limb-girdle Muscular Dystrophy
- Trial name
- NCT00390104
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Boston Children's Hospital
Duchenne Muscular Dystrophy, Ambulation Difficulty
Cultural Adaptation, Validity, and Reliability of the Turkish Version of North Star Ambulatory Assessment
The aim of this study is to translate the "North Star Ambulatory Assessment (NSAA)" scale into Turkish and make its cultural adaptation and to demonstrate the reliability and validity of the Turkish version in patients with…
- Conditions
- Duchenne Muscular Dystrophy, Ambulation Difficulty, Ambulation Disorder, Neurologic
- Trial name
- NCT05549999
- Testing
- North Star Ambulatory Assessment
- Where
- Turkey (Türkiye)
- Volunteers
- 86 people
- Sponsor
- Hacettepe University
Overactive Bladder
Urinary Neurotrophin Levels in Healthy Children
The aim of this study is to analyse urinary neurotrophin levels in healthy children. Urine samples will be collected at 3 different times of day (morning, noon, and evening) at urge sensation from all age groups of children who…
- Trial name
- NCT02389270
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Zagreb
Neurofibromatosis Type 1, Precancerous Condition
Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas
RATIONALE: Drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. Combining methotrexate with vinblastine may be effective treatment for neurofibromatosis type 1 associated…
- Trial name
- NCT00030264
- Testing
- Methotrexate, Vinblastine
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Children's Hospital of Philadelphia
Spinal Muscular Atrophy, SMA
A Study to Evaluate How Apitegromab Works in Subjects Who Are Less Than 2 Years Old and Have Spinal Muscular Atrophy
This double-blind, Phase 2, multiple-dose study will be conducted to evaluate the PK/PD, efficacy, safety, and tolerability of apitegromab in subjects <2 years old with 5q autosomal recessive SMA who have delayed motor milestones…
- Conditions
- Spinal Muscular Atrophy, SMA, Spinal Muscular Atrophy Type 2, Spinal Muscular Atrophy Type 3
- Trial name
- OPAL (NCT07047144)
- Testing
- Apitegromab, Nusinersen, Risdiplam
- Where
- 23 sites in United States, Belgium and 5 more
- Volunteers
- 52 people
- Sponsor
- Scholar Rock, Inc.
Duchenne Muscular Dystrophy (DMD), Chronic Pain
Does Chronic Pain Change Over Time in Children With Duchenne Muscular Dystrophy?
1. Brief Summary This prospective observational study aims to evaluate the 6-month longitudinal changes in chronic pain, pain characteristics, coping strategies, and functional performance in children and adolescents aged 7 to 18…
- Conditions
- Duchenne Muscular Dystrophy (DMD), Chronic Pain, Neuromuscular Diseases (NMD)
- Trial name
- NCT07892196
- Testing
- Routine Clinical Follow-up and Pain Assessment
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people
- Sponsor
- Antalya Training and Research Hospital
Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth
Natural History Study for Charcot Marie Tooth Disease
The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden…
- Conditions
- Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth, Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease Type 2A
- Trial name
- NCT05902351
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Hereditary Neuropathy Foundation
Flat Foot; Spastic
To Evaluate the Efficiency and Results of Adding BFR to the Physical Therapy Program fo Managing Adolescents Presented With Spasmotic Flatfoot Deformities Compared to the Standard Physical Therapy Program Without BFR
The goal of this randomized clinical trial is to evaluate the efficiency and results of adding blood flow restriction (BFR) training to the physical therapy program for managing adolescents presented with spasmotic flatfoot…
- Trial name
- BFR SFFD (NCT07343752)
- Testing
- blood flow restriction
- Where
- Egypt
- Volunteers
- 40 people
- Sponsor
- Assiut University
Myotonic Dystrophy Type-1, Myotonic Dystrophy Type-2
Assessing Clinical Endpoints and Biomarkers in Myotonic Dystrophy Type-1 and Type 2 (ASCEND-DM)
Background: Myotonic dystrophy is a long-term genetic disorder that affects muscle function. Symptoms include gradually worsening muscle loss and weakness. Muscles often contract and cannot relax.
- Trial name
- NCT03867435
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)