Clinical trials: Neural Degeneration
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
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
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
Pantothenate Kinase-Associated Neurodegeneration
Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)
A multi-center, placebo controlled, double-blind trial comparing the efficacy and safety of 18 months of treatment with deferiprone versus placebo in patients with PKAN.
- Trial name
- NCT01741532
- Testing
- Deferiprone oral solution
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 89 people
- Sponsor
- ApoPharma
Neurodegeneration, G-CSF
Neuroregenerative Potential of Intravenous G-CSF and Autologous Peripheral Blood Stem Cells
The current study describes a randomized, double-blind, cross-over study of intravenous G-CSF followed by infusion with autologous mobilized peripheral blood mononuclear cells (mPBMCs) in children with cerebral palsy (CP) to…
- Conditions
- Neurodegeneration, G-CSF, Peripheral Blood Mononuclear Cells, Cerebral Palsy
- Trial name
- NCT02983708
- Testing
- Peripheral blood mononuclear cells (mPBMC), G-CSF
- Volunteers
- 57 people
- Sponsor
- Hanyang University Seoul Hospital
Mitochondrial Diseases, Drug Resistant Epilepsy
A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
This is a parallel-arm, double-blind, placebo-controlled study with a screening phase that includes a 28-day run-in phase to establish baseline seizure frequency, followed by a 24-week, randomized, placebo-controlled phase.
- Conditions
- Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome
- Trial name
- MIT-E (NCT04378075)
- Testing
- Vatiquinone
- Where
- 27 sites in United States, Canada and 7 more
- Volunteers
- 68 people
- Sponsor
- PTC Therapeutics
Spinal Cord Injury, Spinal Cord Involvement
Clinical Trial of a Serious Game for Individuals With SCI/D
This study will evaluate the efficacy of a newly developed serious game, SCI HARD, to enhance self-management skills, self-reported health behaviors, and quality of life among adolescents and young adults with spinal cord injury…
- Conditions
- Spinal Cord Injury, Spinal Cord Involvement, Spina Bifida, Transverse Myelitis
- Trial name
- NCT02341950
- Testing
- SCI Hard
- Where
- United States
- Volunteers
- 184 people
- Sponsor
- University of Michigan
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
Neurodegeneration With Brain Iron Accumulation (NBIA)
NBIAready: Online Collection of Natural History Patient-reported Outcome Measures
The purpose of this study is to learn more about Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders. Data is being collected on three types of NBIA disorders: Pantothenate Kinase-Associated Neurodegeneration (PKAN)…
- Trial name
- NCT02587858
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Susan J. Hayflick
Diabetic Retinopathy, Glaucoma
AI for the Detection of Retinal Disease and Glaucoma in Patients With Diabetes Mellitus in Primary Care
Background: Diabetic retinopathy (DR) is one of the most important causes of blindness worldwide, especially in developed countries.
- Conditions
- Diabetic Retinopathy, Glaucoma, Age-Related Macular Degeneration, Choroidal Nevus
- Trial name
- NCT04132401
- Testing
- algorithm
- Where
- Spain
- Volunteers
- 902 people
- Sponsor
- Fundacio d'Investigacio en Atencio Primaria Jordi Gol i Gurina
Pantothenate Kinase-associated Neurodegeneration (PKAN)
Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)
The purpose of this study is to learn whether blood flow in the brain is normal in people with pantothenate kinase-associated neurodegeneration (PKAN).
- Trial name
- NCT01838018
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Susan J. Hayflick
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
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.
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)
Multiple Sclerosis
Obesity and Pediatric Multiple Sclerosis
Obesity is one possible contributor to severity of multiple sclerosis and progression of the disease. We already know that obesity is a risk determinant for acquiring MS, yet the impact of obesity on pediatric MS disease…
- Trial name
- NCT04593082
- Where
- 2 sites in United States
- Volunteers
- 116 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Friedreich Ataxia
Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia
Friedreich's ataxia is characterized by progressive alterations in the function of the cerebellum accompanied by an atrophy of the spinal cord.
- Trial name
- NCT01776164
- Where
- United States
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
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
Pantothenate Kinase-Associated Neurodegeneration
Compassionate Use of Deferiprone in Patients With PKAN
Patients with pantothenate kinase-associated neurodegeneration (PKAN) who have completed the ApoPharma-sponsored study TIRCON2012V1-EXT and who wish to continue to take deferiprone will be offered the opportunity to receive it on…
- Trial name
- NCT02635841
- Testing
- Deferiprone
- Sponsor
- Chiesi Canada Corp
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.
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