Clinical trials: Central and Peripheral Neurodegenerative Pathologies
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Dystonia, Drug Induced Dystonia
Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia
This research involves retrospective and prospective studies for clinical validation of a DystoniaNet deep learning platform for the diagnosis of isolated dystonia.
- Conditions
- Dystonia, Drug Induced Dystonia, Parkinson Disease, Essential Tremor
- Trial name
- NCT05317390
- Testing
- DystoniaNet-based diagnosis of isolated dystonia
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts Eye and Ear Infirmary
Bardet Biedl Syndrome (BBS), Bardet Biedl Syndrome
Real-World Effects of MC4R Agonist Therapy in BBS and Severe Genetic Obesity
Bardet-Biedl syndrome (BBS) and other rare disorders associated with impairment of the melanocortin-4 receptor (MC4R) pathway are characterized by severe early-onset obesity, hyperphagia, and substantial morbidity.
- Conditions
- Bardet Biedl Syndrome (BBS), Bardet Biedl Syndrome, Bardet-Biedl Syndrome (BBS), Alstrom Syndrome
- Trial name
- REAL-MC4 (NCT07674290)
- Testing
- Setmelanotide
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Tom Hühne
Hypoxic-Ischemic Encephalopathy
Study of Cerebrolysin for Treatment of Infants With History of Neonatal Hypoxic Ischemic Encephalopathy
The purpose of this study is to determine whether nerve growth factor (cerebrolysin®) therapy will improve the psychomotor outcome in infants with moderate and severe hypoxic ischemic encephalopathy after hospital discharge.
- Trial name
- CerebroHIE (NCT01059461)
- Testing
- Cerebrolysin®
- Where
- 2 sites in Egypt
- Volunteers
- 40 people
- Sponsor
- Sahar M.A. Hassanein, MD
HSP, Hereditary Spastic Paraplegia
Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
Safety and Efficacy of AAV9/AP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration.
- Conditions
- HSP, Hereditary Spastic Paraplegia, Hereditary Spastic Paraparesis, Hereditary Spastic Paraplegia Type 50
- Trial name
- NCT06948019
- Testing
- BFB-101 (AAV9-CBh-AP4B1)
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- BlackfinBio Ltd
Bardet Biedl Syndrome (BBS), Alström Syndrome (AS)
Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity
This pivotal, phase 3 study is designed to confirm the efficacy and safety of setmelanotide, a potent melanocortin receptor type 4 (MC4R) agonist, for the treatment of obesity and hyperphagia in participants with Bardet Biedl…
- Trial name
- NCT03746522
- Testing
- Setmelanotide
- Where
- 12 sites in United States, Canada and 4 more
- Volunteers
- 52 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Spinal Amyotrophy, Infantile Spinal Muscular Atrophy
Evaluation of the Reproducibility of a Fatigability Test Fitted to Patients With Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the degeneration of motor neurons in the anterior horn of the spinal cord, due to the absence of the SMN1 gene and the resulting lack of SMN…
- Conditions
- Spinal Amyotrophy, Infantile Spinal Muscular Atrophy, Juvenile Spinal Muscular Atrophy
- Trial name
- FANTASI-SMART (NCT06562283)
- Testing
- Thumb test, Grip test, Quadriceps Intermittent Fatigue test (QIF test))
- Where
- 4 sites in France
- Volunteers
- 80 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Primary Lateral Sclerosis, Hereditary Spastic Paraplegia
Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis
This study will use a magnetic resonance imaging technique called nuclear magnetic spectroscopy (H-MRS) to define the pathology and progression of primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral…
- Conditions
- Primary Lateral Sclerosis, Hereditary Spastic Paraplegia, Amyotrophic Lateral Sclerosis
- Trial name
- NCT00023075
- Where
- United States
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Vaccine-induced Thrombotic Thrombocytopenia Syndrome, Guillain-Barre Syndrome
Gene Sequencing as a Strategy for Identifying Genetic Factors Associated With Serious Adverse Events After Covid-19 Vaccines in Use in Brazil
This protocol proposes to investigate genetic factors that may be involved in the pathogenesis of adverse events of interest with selected covid-19 vaccines: vaccine-induced immune thrombotic thrombocytopenia, and neurological…
- Conditions
- Vaccine-induced Thrombotic Thrombocytopenia Syndrome, Guillain-Barre Syndrome, Acute Disseminated Encephalomyelitis, Transverse Myelitis
- Trial name
- NCT05630313
- Where
- Brazil
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- The Immunobiological Technology Institute (Bio-Manguinhos) / Oswaldo Cruz Foundation (Fiocruz)
Parkinson Disease, MSA - Multiple System Atrophy
Exploring the Olfactory Mucosa, Blood and Urine for the Identification of Early Biomarkers of Parkinson's Disease, Atypical Parkinsonisms and Neurocognitive Disorders Due to Lewy Body Disease
Clinical diagnosis of Parkinson's disease (PD), multiple system atrophy (MSA) and dementia with Lewy bodies (DLB) is challenging, especially in the early stages.
- Conditions
- Parkinson Disease, MSA - Multiple System Atrophy, Lewy Body Dementia (LBD), Neurodegenerative Disease
- Trial name
- EXTRAORDINARY (NCT06846658)
- Where
- 3 sites in Italy
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
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.
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Organic, Including Symptomatic, Mental Disorders, Substance Use
Exploring the Comorbidity Between Mental Disorders and General Medical Conditions
Mental disorders have been shown to be associated with a number of general medical conditions (also referred to as somatic or physical conditions).
- Conditions
- Organic, Including Symptomatic, Mental Disorders, Substance Use, Schizophrenia, Mood [Affective] Disorders
- Trial name
- COMO-GMC (NCT03847753)
- Testing
- Organic Disorders, Substance Use Disorders, Schizophrenia Disorders
- Volunteers
- 5,940,299 people
- Sponsor
- University of Aarhus
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
Cardiomyopathies, Amyloidosis Cardiac
Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation
The study aims to identify new diagnostic and prognostic markers for CMP that can help predict disease progression. In particular, the study will focus on microRNAs (miRNAs) and spatial transcriptomics, which are emerging…
- Conditions
- Cardiomyopathies, Amyloidosis Cardiac, Fabry Disease, Arrhythmogenic Cardiomyopathy
- Trial name
- CMPMIRNA (NCT06813443)
- Where
- 3 sites in Italy
- Volunteers
- 700 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Opsoclonus-myoclonus Syndrome
Study of Cytokines in Children With Opsoclonus-Myoclonus Syndrome
The purpose of this study is to determine if cytokines, inflammatory mediators, are increased in spinal fluid and blood, correlate with disease activity, and could serve as biomarkers or therapeutic targets in children with…
- Trial name
- OMS (NCT00806182)
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- National Pediatric Neuroinflammation Organization, Inc.
Hereditary Spastic Paraplegia, Spastic Ataxia
TreatHSP Platform: Adaptive Natural History Platform for Ataxias, HSPs, and Spastic Ataxias
Ataxias, hereditary spastic paraplegias (HSP), and spastic ataxias (collectively referred to as SPAX diseases) are rare neurological conditions that cause progressive problems with walking, balance, coordination, and daily…
- Trial name
- TreatHSP (NCT07798674)
- Where
- 30 sites in Austria, Czechia and 7 more
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Heidelberg University
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Neurologic Diseases, Hemiparesis
NuroSleeve Powered Brace & Stimulation System to Restore Arm Function
The purpose of this study is to investigate if a person with weakness or paralysis in one or both arms, can use the NuroSleeve combined powered arm brace (orthosis) and muscle stimulation system to help restore movement in one…
- Conditions
- Neurologic Diseases, Hemiparesis, Quadriplegia, Muscular Dystrophies
- Trial name
- NCT04798378
- Testing
- Neurosleeve
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Thomas Jefferson University
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia