Clinical trials: Leukodystrophy
X-linked Adrenoleukodystrophy
Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
The purpose is to see how X-linked adrenoleukodystrophy (X-ALD) is associated with strength and sensation using MRI, in women with X-ALD.
- Trial name
- NCT01594853
- Testing
- exercise training
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Hurler Syndrome (MPS I), Hurler-Scheie Syndrome
Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
The goal of this research study is to establish chimerism and avoid graft-versus-host-disease (GVHD) in patients with inherited metabolic disorders.
- Conditions
- Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III)
- Trial name
- NCT01372228
- Testing
- hematopoietic stem cell infusion
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Talaris Therapeutics Inc.
Lysosomal Storage Disorders, Sandhoff Disease
Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)
The purpose of this study is to evaluate the safety, tolerability and clinical activity of PLX-200 in pediatric patients with lysosomal storage disorders.
- Conditions
- Lysosomal Storage Disorders, Sandhoff Disease, Krabbe Disease, CLN2
- Trial name
- NCT07740512
- Testing
- PLX-200
- Volunteers
- 24 people
- Sponsor
- Polaryx Therapeutics, Inc.
CTX
Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)
The study is made up of two cohorts: a randomized double-blind crossover (placebo withdrawal with rescue) study among patients ≥ 16 years of age (adult cohort) and an open-label dose titration study among pediatric patients ≥1…
- Trial name
- NCT04270682
- Testing
- Blinded CDCA 250 mg TID, Open-Label CDCA 250 mg TID, Rescue Medication CDCA 250 mg TID
- Where
- 12 sites in United States, Brazil
- Volunteers
- 19 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
Infantile Globoid Cell Leukodystrophy
The Natural History of Infantile Globoid Cell Leukodystrophy
The purpose of this natural history study is to understand more about the progression of infantile Krabbe disease, a very rare genetic disease. There is very little published longitudinal data with only anecdotal cases.
- Trial name
- NCT00983879
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Zymenex A/S
Adrenoleukodystrophy, Metachromatic Leukodystrophy
HSCT for High Risk Inherited Inborn Errors
Hematopoietic stem cell transplantation has proven effective therapy for individuals with adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD) or globoid cell leukodystrophy (GLD, or Krabbe disease).
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease
- Trial name
- NCT00383448
- Testing
- Clofarabine, Total body Irradiation, Melphalan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Canavan Disease, Infantile
Lithium and Acetate for Canavan Disease
The aim of this study is to determine whether oral supplementation with lithium and acetate may improve the biological and clinical prognosis in patients with Canavan Disease.
- Conditions
- Canavan Disease, Infantile, Deficiency Disease, Aspartoacylase
- Trial name
- NCT00657748
- Testing
- Lithium Gluconate (drug) Glyceryl Triacetate GTA (drug)
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Lysosomal Storage Disease, Metachromatic Leukodystrophy
A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD)
OTL-200 is autologous CD34+ cells transduced with lentiviral vector containing human arylsulfatase A (ARSA) complementary deoxyribonucleic acid (cDNA) used for the treatment of MLD.
- Trial name
- NCT03392987
- Testing
- OTL-200
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- Orchard Therapeutics
Leukodystrophies
Natural History of the Leukodystrophies
The purpose of this study is to: 1. define novel homogeneous groups of patients with LDs and 2. work toward finding the cause of these disorders.
- Trial name
- NCT02843555
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Baylor Research Institute
Inherited Disease, Rare Diseases
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal…
- Conditions
- Inherited Disease, Rare Diseases, Metabolic Disease, Undiagnosed Disease
- Trial name
- NCT04880356
- Testing
- collection of data
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
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
Manual Lymphatic Drainage, Swedish Massage
Comparison of Acute Effect of Different Manual Techniques on Muscle Fascia Stiffness
There are studies investigating the effect of different massage methods on muscle fascia stiffness but the results do not support each other.
- Conditions
- Manual Lymphatic Drainage, Swedish Massage, Muscle Fascia Stiffness
- Trial name
- NCT04324775
- Testing
- Exercise + Manual Lymphatic Drainage, Exercise + Swedish massage
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Marmara University
Lysosomal Storage Diseases, Inborn Errors of Metabolism
Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases
The purpose of this study is to determine if it is safe to administer unrelated umbilical cord blood to pregnant women in their first trimester of pregnancy with a fetus that has a known diagnosis of certain lysosomal storage…
- Trial name
- IUHST-001 (NCT01003912)
- Testing
- ALD-601
- Where
- 2 sites in United States
- Sponsor
- Joanne Kurtzberg, MD
Metachromatic Leukodystrophy
Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use)
A subject was treated under compassionate use provisions under this study with facilitating cell therapy (FCRx) product manufactured using the CliniMACS (Miltenyi Biotec) device, rather than the Max Sep (Baxter) device.
- Trial name
- NCT02084121
- Testing
- Enriched Hematopoetic Stem Cell Infusion
- Where
- United States
- Sponsor
- Talaris Therapeutics Inc.
Metachromatic Leukodystrophy (MLD)
Lentiviral Hematopoietic Stem Cell Gene Therapy for MLD
This is a Phase I/II clinical trial of gene therapy for treating Metachromatic leukodystrophy (MLD) using a safety and efficacy improved self-inactivating lentiviral vector TYF-ARSA to transduce patient-derived hematopoietic stem…
- Trial name
- NCT07046338
- Testing
- Lentiviral TYF-ARSA correction of patient's autologous HSCs
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Mitochondrial, Leukoencephalopathies
Natural History and Genotype-Phenotype Correlations in Mitochondrial Leukoencephalopathies
Mitochondrial disorders (MDs) are among the most common inherited metabolic diseases, caused by genetic defects in mitochondrial or nuclear DNA that impair cellular energy production.
- Conditions
- Mitochondrial, Leukoencephalopathies, Leukoencephalopathy
- Trial name
- Leuko Mito (NCT07868796)
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
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
Late Infantile Metachromatic Leukodystrophy
Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
This is a single center, open-label study of patients with late infantile MLD. All patients were previous treated 26 weeks in the phase I trial (EudraCT number: 2006-005341-11, NCT00418561).
- Trial name
- NCT00633139
- Testing
- Recombinant human Arylsulfatase A (rhASA)
- Where
- Denmark
- Volunteers
- 13 people
- Sponsor
- Shire
Leukodystrophy, Globoid Cell
Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease
PBKR03 is a gene therapy for Krabbe Disease (Globoid cell leukodystrophy) intended to deliver a functional copy of the GALC gene to the brain and peripheral tissues.
- Trial name
- GALax-C (NCT04771416)
- Testing
- PBKR03
- Where
- 9 sites in United States, Brazil and 4 more
- Volunteers
- 24 people
- Sponsor
- Gemma Biotherapeutics
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health