Clinical trials: Metachromatic Leukodystrophy (MLD)
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.
Lysosomal Storage Diseases, Metachromatic Leukodystrophy
OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)
OTL-200 is a cryopreserved dispersion for infusion containing autologous CD34+ cell enriched population that contains haematopoietic stem and progenitor cells (HSPC) transduced ex vivo using a lentiviral vector encoding the human…
- Trial name
- NCT04283227
- Testing
- OTL-200
- Where
- Italy
- Volunteers
- 6 people
- Sponsor
- Orchard Therapeutics
Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD)
Natural History Study of Children With Metachromatic Leukodystrophy
The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).
- Conditions
- Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD), Nervous System Diseases, Brain Diseases
- Trial name
- NCT01963650
- Where
- 14 sites in United States, Argentina and 8 more
- Volunteers
- 1 people
- Sponsor
- Shire
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
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
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
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
Inherited Metabolic Diseases, Lysosomal Storage Disorders
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease.
- Conditions
- Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism
- Trial name
- UCBT-002 (NCT00654433)
- Testing
- ALD-101
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- Aldagen
Hurler's Syndrome, Maroteaux-Lamy Syndrome
Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
The primary objective of this clinical trial is to evaluate the ability to achieve and sustain donor engraftment in patients with lysosomal and peroxisomal inborn errors of metabolism undergoing hematopoietic stem cell…
- Conditions
- Hurler's Syndrome, Maroteaux-Lamy Syndrome, Sly Syndrome, Alpha Mannosidosis
- Trial name
- NCT00668564
- Testing
- Stem Cell Transplantation, Cyclophosphamide, Campath-1H
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Metachromatic Leukodystrophy (MLD)
An Efficacy and Safety Study of HGT-1110 in Participants With Metachromatic Leukodystrophy
The purpose of this study is to collect long-term safety data in participants with metachromatic leukodystrophy (MLD) who are receiving HGT-1110 and have participated in Study HGT-MLD-070 (NCT01510028) through Week 40.
- Trial name
- NCT01887938
- Testing
- HGT-1110
- Where
- 15 sites in Australia, Brazil and 5 more
- Volunteers
- 24 people
- Sponsor
- Shire
Metachromatic Leukodystrophy
Efficacy METAZYM for the Treatment Metachromatic Leukodystrophy Treated With Hematopoietic Stem Cell Transplantation
There is currently no effective treatment for late infantile MLD once clinical symptoms are evident. METAZYM is a recombinant human arylsulfatase A developed for an intravenous ERT for the treatment of late infantile MLD.
- Trial name
- Azylis (NCT01303146)
- Testing
- rhARSA
- Where
- France
- Volunteers
- 1 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Inherited Metabolic Disorders (IMD)
A Follow-up Study in Patients With Inherited Metabolic Disorders (IMD) Who Underwent Hematopoietic Stem Cell Transplantation (HSCT) With MGTA-456
A follow-up study to evaluate the safety and clinical outcomes of patients with inherited metabolic disorders (IMD) who have undergone hematopoietic stem cell transplantation (HSCT) with MGTA-456
- Trial name
- IMD-002 (NCT04008849)
- Testing
- Safety and efficacy assessments
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Magenta Therapeutics, Inc.
Metachromatic Leukodystrophy
The Natural History of Metachromatic Leukodystrophy Study (HOME Study)
The primary aims of the HOME Study are to: Design and implement a natural history study for metachromatic leukodystrophy to serve as a source of external control data, to augment or replace concurrent controls in clinical trials…
- Trial name
- NCT04628364
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- National Organization for Rare Disorders
I Cell Disease, Fucosidosis
Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
OBJECTIVES: I. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory…
- Conditions
- I Cell Disease, Fucosidosis, Globoid Cell Leukodystrophy, Adrenoleukodystrophy
- Trial name
- NCT00005900
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Fairview University Medical Center
Peripheral Neuropathy, Muscle Weakness
Biomarker for Metachromatic Leukodystrophy (BioMeta) Disease
Development of a new MS-based biomarker for the early and sensitive diagnosis of Metachromatic Leu-kodystrophy disease from blood (plasma)
- Trial name
- BioMeta (NCT01536327)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
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
Mucopolysaccharidosis I, Mucopolysaccharidosis VI
Human Placental-Derived Stem Cell Transplantation
The purpose of this clinical trial is to investigate the safety of human placental-derived stem cells (HPDSC) given in conjunction with umbilical cord blood (UCB) stem cells in patients with various malignant or nonmalignant…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Adrenoleukodystrophy, Niemann-Pick Disease
- Trial name
- HPDSC (NCT01586455)
- Testing
- Human Placental Derived Stem Cell
- Where
- 3 sites in United States
- Volunteers
- 43 people
- Sponsor
- New York Medical College
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)
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
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