Clinical trials: Neurodegeneration
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
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
Friedreich Ataxia
Safety Study of Idebenone to Treat Friedreich's Ataxia
This study will determine the highest dose of idebonone that can safely be given to patients with Friedrich's ataxia, an inherited degenerative disease that causes loss of muscle coordination, speech problems, weakness and…
- Trial name
- NCT00015808
- Testing
- Idebenone
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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
Neurodegeneration With Brain Iron Accumulation (NBIA), Pantothenate Kinase-associated Neurodegeneration (PKAN)
TIRCON International NBIA Registry
TIRCON-reg aims to continue the provision of a global registry and natural history study for NBIA disorders harmonize and cover existing national and single site registries enable participation of countries and single sites that…
- Conditions
- Neurodegeneration With Brain Iron Accumulation (NBIA), Pantothenate Kinase-associated Neurodegeneration (PKAN), Beta-Propeller Protein-Associated Neurodegeneration (BPAN), Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN)
- Trial name
- TIRCON (NCT05522374)
- Where
- 9 sites in Canada, Czechia and 6 more
- Volunteers
- 2,000 people
- Sponsor
- LMU Klinikum
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
Ataxia Telangiectasia
Neurofilament Light- Chain in Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT04605523
- Testing
- blood withdrawal
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- Johann Wolfgang Goethe University Hospital
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 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 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
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
Parkinson Disease, REM Sleep Behavior Disorder (iRBD)
Role of Slow Waves in the Progression of Neurodegeneration in Isolated REM Sleep Behavior Disorder
This study tests whether enhancing deep sleep with gentle sounds at night can slow progression in people with iRBD or early Parkinson's disease. Participants wear a sensor headband and headphones for 18 months.
- Trial name
- SloW-iRBD (NCT07355842)
- Testing
- Tosoo Axora
- Where
- Switzerland
- Volunteers
- 80 people
- Sponsor
- University of Zurich
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.
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
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
Primary Progressive Aphasia
Language in Primary Progressive Aphasia
The purpose of this study is to further define the neurological and linguistic deterioration in primary progressive aphasia.
- Trial name
- NCT00537004
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Northwestern University
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.
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
Neurodegenerative Disease, Hereditary, Mitochondrial Diseases
Natural History Study of FDXR Mutation-related Mitochondriopathy
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the ferredoxin reductase gene.
- Conditions
- Neurodegenerative Disease, Hereditary, Mitochondrial Diseases, Optic Atrophy
- Trial name
- NCT04580979
- Testing
- Mutation analysis
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- State University of New York at Buffalo
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