Clinical trials: Neurodegeneration
MPAN
Mitochondrial Membrane Protein Neurodegeneration (MPAN)
The purpose of this case study was to investigate the effects of therapeutic intervention in 9- and 12-year-old brothers with MPAN.
- Trial name
- NCT05678790
- Testing
- Passive Stretching, Mobilization, Muscle strengthening
- Where
- Turkey (Türkiye)
- Volunteers
- 2 people
- Sponsor
- Kirsehir Ahi Evran Universitesi
Wolfram Syndrome
I-Tracking Neurodegeneration in Early Wolfram Syndrome
Wolfram syndrome (WFS; OMIM #222300) is a rare autosomal recessive disease clinically defined in 1938 as the combination of childhood-onset insulin dependent diabetes, optic nerve atrophy, diabetes insipidus and deafness.
- Trial name
- I-TRACK (NCT03951298)
- Where
- United States
- Volunteers
- 128 people
- Sponsor
- Washington University School of Medicine
Neurodegeneration With Brain Iron Accumulation (NBIA)
Testing of NBIA Genes: Analysis of Genetic Heterogeneity and Validation of Mitochondrial Markers for Assessing Causality of Sequence Variants.
Neurodegeneration with brain iron accumulation (NBIA) represent a group of rare neurodevelopmental diseases, genetically as well as phenotypically heterogeneous. The diagnosis is based on brain MRI.
- Trial name
- NBIA MITO (NCT05615571)
- Testing
- Establishment of mitochondrial markers, Sequencing tests
- Where
- France
- Volunteers
- 70 people
- Sponsor
- University Hospital, Bordeaux
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
Nervous System Disease, Immune System Disease
Detection and Characterization of Neurologic Manifestations of Inborn and Acquired Errors of Immunity
Background: Immune system and nervous system have significant interaction so that People with immunity diseases can have complications that affect the nervous system and people with some neurological disease may have defects in…
- Trial name
- NCT06169150
- Where
- United States
- Volunteers
- 350 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Kinky Hair Syndrome
Copper Histidine Therapy for Menkes Diseases
Menkes Disease is a genetic disorder affecting the metabolism of copper. Patient with this disease are both physically and mentally retarded. Menkes disease is usually first detected in the first 2-3 months of life.
- Trial name
- NCT00001262
- Testing
- Copper Histidine
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Pantothenate Kinase-Associated Neurodegeneration
Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration
Patients with PKAN will be treated with the iron chelator deferiprone for 18 months. Only patients who have completed the earlier study TIRCON2012V1 (NCT01741532), a double-blind placebo-controlled trial in which participants…
- Trial name
- TIRCON-EXT (NCT02174848)
- Testing
- Deferiprone oral solution
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 68 people
- Sponsor
- ApoPharma
Dravet Syndrome (DS)
Biomarkers of Neurodegeneration, Synaptic Plasticity and Neuroinflammation in Dravet Syndrome
Dravet syndrome (DS) is a developmental and epileptic encephalopathy, usually caused by de novo pathogenic SCN1A variants, characterized by early-onset prolonged febrile seizures, subsequent drug-resistant polymorphic epilepsy…
- Trial name
- TEMBO-DS (NCT07801404)
- Where
- 9 sites in Italy
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Pantothenate Kinase-Associated Neurodegeneration
CoA-Z in Pantothenate Kinase-associated Neurodegeneration (PKAN)
The purpose of this study is to learn more about how people with the condition pantothenate kinase-associated neurodegeneration (PKAN) respond to a specialized study product.
- Trial name
- NCT04182763
- Testing
- CoA-Z
- Where
- United States
- Volunteers
- 77 people
- Sponsor
- Oregon Health and Science University
Intellectual Disability, Rubinstein-Taybi Syndrome
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients.
- Conditions
- Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis, Congenital Heart Defect
- Trial name
- RID (NCT05696912)
- Testing
- Ex-vivo approach concerning 25 patients, In-vitro approach concerning 25 patients
- Where
- France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Bordeaux
Rare Diseases
European Registry on Rare Neurological Diseases
The recent implementation of European Reference Networks for Rare Diseases (ERNs) is an unprecedented move to improve the care of patients suffering from rare health disorders by transnational collaboration.
- Trial name
- ERN-RND reg (NCT04319796)
- Testing
- Data set as defined by the ERN Research Workgroup of the European Commission
- Volunteers
- 5,000 people
- Sponsor
- University Hospital Tuebingen
Infantile Neronal Ceroid Lipofuscinosis
Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis
This study will examine the effectiveness of a drug called Cystagon in treating infantile neuronal ceroid lipofuscinosis (INCL), a progressive neurological disease affecting children.
- Trial name
- NCT00028262
- Testing
- Cystagon
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Neurodegenerative Diseases, Parkinson Disease
Neurodegenerative Diseases Progression Markers (MARKERS-NDD)
MARKERS-NDD is a prospective, observational, longitudinal study, which aims to collect data from patients affected by neurodegenerative diseases (NDD) followed longitudinally for routine examinations performed as part of normal…
- Conditions
- Neurodegenerative Diseases, Parkinson Disease, Synucleinopathies, Lewy Body Disease
- Trial name
- MARKERS-NDD (NCT06596746)
- Testing
- Observation
- Where
- Italy
- Volunteers
- 600 people
- Sponsor
- Casa di Cura San Raffaele Cassino
Neurotoxicity Syndrome, Cassava, Neurotoxicity Syndrome, Cyanate
Cassava Intervention Project
Investigators will implement a novel cassava processing method (wetting method, WTM) that safely removes cyanogenic compounds from cassava flour prior to human consumption in a stratified village-cluster randomized…
- Conditions
- Neurotoxicity Syndrome, Cassava, Neurotoxicity Syndrome, Cyanate, Neurotoxicity Syndrome, Cyanide, Neurotoxicity Syndrome, Thiocyanate
- Trial name
- NCT03157336
- Testing
- Non Inferiority WTM Interventional Trial
- Where
- Democratic Republic of the Congo
- Volunteers
- 1,200 people
- Sponsor
- Ministry of Public Health, Democratic Republic of the Congo
Menkes Disease, Occipital Horn Syndrome
Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Menkes disease and occipital horn syndrome are two forms of copper deficiency that must be diagnosed and treated very early in life to prevent serious developmental problems.
- Conditions
- Menkes Disease, Occipital Horn Syndrome, Unexplained Copper Deficiency
- Trial name
- NCT00811785
- Testing
- Copper Histidine
- Where
- United States
- Volunteers
- 93 people
- Sponsor
- Cyprium Therapeutics, Inc.
Neurodevelopmental Disorders, Autism Spectrum Disorder
Patterns of Neurodevelopmental Disorders
The purpose of this study is to systematically evaluate the results of medical investigations to identify symptom and biological patterns and common etiologies of neurodevelopmental disorders.
- Conditions
- Neurodevelopmental Disorders, Autism Spectrum Disorder, Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection, Pediatric Acute-Onset Neuropsychiatric Syndrome
- Trial name
- NCT06213090
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Richard Frye
Neurodegeneration With Brain Iron Accumulation (NBIA), Iron Metabolism Disorders
Brain Iron in Beta-Propeller Protein Associated Neurodegeneration (BPAN)
This study aims to quantify intracerebral iron load in patients with Beta-Propeller Protein-Associated Neurodegeneration (BPAN) using Quantitative Susceptibility Mapping (QSM) technique.
- Conditions
- Neurodegeneration With Brain Iron Accumulation (NBIA), Iron Metabolism Disorders, Brain Disease
- Trial name
- QUBIPAN (NCT07868120)
- Testing
- Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM)
- Where
- France
- Volunteers
- 3 people
- Sponsor
- University Hospital, Bordeaux
Niemann-Pick Disease, Type C
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
Background: Niemann-Pick disease type C (NPC) is a genetic disorder that results in progressive loss of nervous system function by affecting the membranes of nerve cells. There is no known cure for NPC.
- Trial name
- NCT00975689
- Testing
- N-Acetyl Cysteine
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Pantothenate Kinase-Associated Neurodegeneration
Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN Participants
This study investigated whether fosmetpantotenate (RE-024), a phosphopantothenate replacement therapy, was safe and effective in treating participants with PKAN.
- Trial name
- PKAN (NCT03041116)
- Testing
- Fosmetpantotenate
- Where
- 20 sites in United States, Canada and 7 more
- Volunteers
- 84 people
- Sponsor
- Travere Therapeutics, Inc.
Glaucoma Associated With Other Ocular Disorders, Retina Disorder
AOSLO Imaging for the Study of Cellular Alterations in Retinal Neurodegeneration
Primary objective: Acquisition and analysis of images for non-medical purposes using the MONA IV system, an adaptive-optics-corrected scanning ophthalmoscope.
- Trial name
- RETION (NCT07725055)
- Testing
- MONA Imaging System
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts