Clinical trials: Leukoencephalopathies
Posterior Reversible Encephalopathy Syndrome
Prognostic Observation of Posterior Reversible Encephalopathy Syndrome
Posterior Reversible Encephalopathy Syndrome (PRES) is a clinical-radiological entity, which is associated with a variety of clinical conditions.
- Trial name
- POPRES (NCT02665598)
- Where
- China
- Volunteers
- 400 people
- Sponsor
- Yantai Yuhuangding Hospital
Multiple Sclerosis, Progressive Multifocal Leukoencephalopathy
Risk of Progressive Multifocal Leukoencephalopathy Among Patients With Multiple Sclerosis Exposed to Zeposia
This study will evaluate the risk of progressive multifocal leukoencephalopathy (PML), a rare brain infection caused by John Cunningham virus (JCV), among people with multiple sclerosis who have been treated with ozanimod.
- Trial name
- NCT07732907
- Testing
- Ozanimod
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Bristol-Myers Squibb
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
Thrombocytopenia, Metachromatic Leukodystrophy
Stem Cell Transplantation (SCT) for Genetic Diseases
OBJECTIVES: I. Ascertain whether stem cell transplantation (SCT) is an effective method by which missing or dysfunctional enzymes can be replaced in patients with various inborn errors of metabolism. II.
- Conditions
- Thrombocytopenia, Metachromatic Leukodystrophy, Fanconi's Anemia, Thalassemia Major
- Trial name
- NCT00004378
- Testing
- Stem Cell Transplantation
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
X-Linked Adrenoleukodystrophy
A Study to Prospectively Assess Disease Progression in Male Children With X-ALD
This is a non-interventional, multi-center study that follows general principles of periodic assessment of X-ALD patients in routine practice.
- Trial name
- NCT03278899
- Where
- 3 sites in United States
- Volunteers
- 100 people
- Sponsor
- NeuroVia, Inc.
Krabbe Disease
Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease
This study is designed to learn about early brain development in children with Krabbe disease, and to use diffusion tensor imaging as an early diagnostic tool to identify newborns at risk for the disease.
- Trial name
- NCT00787865
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Metachromatic Leukodystrophy
The Natural History of Metachromatic Leukodystrophy
There have not been longitudinal studies which track patients' neurologically or developmentally in a systematic manner. By simultaneously tracking patients' neurodevelopment along with neuroimaging and neurophysiologic studies…
- Trial name
- NH-US (NCT00639132)
- Sponsor
- University of Pittsburgh
Inherited Metabolic Disorders (IMD)
MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT)
This study is designed to assess the safety and efficacy of using MGTA-456 in patients with Inherited Metabolic Disorders (IMD) undergoing stem cell transplantation.
- Trial name
- NCT03406962
- Testing
- MGTA-456
- Where
- 2 sites in United States
- Volunteers
- 8 people
- Sponsor
- Magenta Therapeutics, Inc.
Metachromatic Leukodystrophy (MLD)
A Study to Learn About Metachromatic Leukodystrophy (MLD) in Children in Spain
The main aim of this study is to learn about metachromatic leukodystrophy (MLD) in children and teenagers in Spain. This includes checking the number of new MLD cases and the frequency of children with MLD in 2022 in Spain.
- Trial name
- mECHromatic (NCT05755568)
- Testing
- No Intervention
- Where
- 10 sites in Spain
- Sponsor
- Takeda
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
Metachromatic Leukodystrophy (MLD)
Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD)
The purpose of this study is to determine the safety of ascending doses of HGT-1110 administered by intrathecal (IT) injection for 38 weeks (20 injections) in children with metachromatic leukodystrophy (MLD).
- Trial name
- IDEAMLD (NCT01510028)
- Testing
- Recombinant human arylsulfatase A
- Where
- 5 sites in Australia, Denmark and 3 more
- Volunteers
- 24 people
- Sponsor
- Shire
Cree Leukoencephalopathy
Single Patient Investigational Treatment for Cree Leukoencephalopathy
Cree Leukoencephalopathy (CLE) is a very rare and severe brain disease that mainly affects members of the Cree communities in Northern Quebec.
- Trial name
- NCT07300397
- Testing
- Fosigotifator
- Where
- Canada
- Volunteers
- 1 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Vanishing White Matter, Cree Leukoencephalopathy
Expanded Access to Fosigotifator
This is an expanded access program (EAP) for eligible participants. This program is designed to provide access to Fosigotifator prior to approval by the local regulatory agency. Availability will depend on territory eligibility.
- Trial name
- NCT06594016
- Testing
- Fosigotifator
- Sponsor
- AbbVie
Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
Long-term Follow-up of Participants With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product
This is a multi-center, long-term safety and efficacy follow-up study for participants with cerebral adrenoleukodystrophy (CALD) who have received Lenti-D Drug Product (eli-cel) in a parent clinical study (Study ALD-102 or Study…
- Conditions
- Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD), X-Linked Adrenoleukodystrophy (X-ALD)
- Trial name
- NCT02698579
- Testing
- No interventional drug product utilized in this follow-up study
- Where
- 13 sites in United States, Argentina and 7 more
- Volunteers
- 64 people
- Sponsor
- Genetix Biotherapeutics Inc.
Leukemia, Myeloid, Acute, Leukemia, B-cell
Precision Exercise in Children With Malignant Hemopathies
In the early years of life and during adolescence, physical activity is crucial for good development of motor skills. It is even more so for those children and young people who are forced to undergo anti-cancer therapies and…
- Conditions
- Leukemia, Myeloid, Acute, Leukemia, B-cell, Leukemia, T Cell, Lymphoma, Hodgkin
- Trial name
- SportTherapy (NCT04090268)
- Testing
- Sport Therapy
- Where
- Italy
- Volunteers
- 380 people, healthy volunteers welcome
- Sponsor
- University of Milano Bicocca
X-linked Adrenoleukodystrophy
Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy
X-linked adrenoleukodystrophy (ALD) is a genetic disorder affecting the brain and adrenal glands. Approximately one third of boys who are at risk will develop cerebral disease.
- Trial name
- NCT02233257
- Testing
- Lorenzo's Oil
- Where
- United States
- Sponsor
- University of Minnesota
Alexander Disease
Evaluation of Outcome Metrics in Alexander Disease
The purpose of this study is to define the natural history of Alexander Disease, a leukodystrophy that causes neurological dysfunction.
- Trial name
- AxD Outcomes (NCT02714764)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Children's Hospital of Philadelphia
Bone Marrow Failure Syndrome, Thalassemia
Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
In this study, the investigators test 2 dose levels of thiotepa (5 mg/kg and 10 mg/kg) added to the backbone of targeted reduced dose IV busulfan, fludarabine and rabbit anti-thymocyte globulin (rATG) to determine the minimum…
- Conditions
- Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia
- Trial name
- NCT03513328
- Testing
- Thiotepa--single daily dose, Thiotepa--escalated dose
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Florida
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
Alpers Huttenlocher Syndrome
Alpers Huttenlocher Natural History Study
This is a natural history study of Alpers Huttenlocher Syndrome. Patients will be followed over time to assess clinical symptoms for the purpose of expanding knowledge of this disorder in the medical community.
- Trial name
- Alpers (NCT03034512)
- Where
- 2 sites in United States
- Volunteers
- 2 people, healthy volunteers welcome
- Sponsor
- Columbia University