Clinical trials: Leukodystrophy
Adrenoleukodystrophy, Metachromatic Leukodystrophy
Stem Cell Transplant for Inborn Errors of Metabolism
The purpose of this study is to determine the safety and engraftment of donor hematopoietic cells using this conditioning regimen in patients undergoing a hematopoietic (blood forming) cell transplant for an inherited metabolic…
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Gaucher's Disease
- Trial name
- NCT00176904
- Testing
- Stem Cell Transplant, Busulfan, Cyclophosphamide, Antithymocyte Globulin
- Where
- United States
- Volunteers
- 135 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
RVCL - Retinal Vasculopathy Cerebral Leukoencephalopathy
Crizanlizumab for Treatment of Retinal Vasculopathy With Cerebral Leukoencephalopathy (RVCL)
This is a Phase 2 trial that will test the efficacy and safety of crizanlizumab for the treatment of retinal vasculopathy with cerebral leukoencephalopathy (RVCL), a very rare and uniformly fatal genetic condition that affects…
- Trial name
- NCT04611880
- Testing
- Crizanlizumab
- Where
- 2 sites in United States
- Volunteers
- 18 people
- Sponsor
- Washington University School of Medicine
Lysosomal Storage Disease, Peroxisomal Disorder
Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders
This study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) in patients with high-risk lysosomal and peroxisomal disorders using a novel…
- Trial name
- NCT01626092
- Testing
- Campath-1H, Clofarabine, Melphalan
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Aicardi Goutières Syndrome
Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome
The overall objectives are to explore the safety and efficacy of Reverse Transcriptase Inhibitors Tenofovir (TDF)/ Emtricitabine (FTC) administered in AGS affected children 2 to 18 years of age.
- Trial name
- RTI in AGS (NCT03304717)
- Testing
- Tenofovir (TDF) and Emtricitabine (FTC)
- Sponsor
- Children's Hospital of Philadelphia
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)
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
Tay-Sachs Disease, Porphyria, Erythropoietic
Diagnostic and Screening Study of Genetic Disorders
OBJECTIVES: I. Determine the phenotypic heterogeneity of patients with genetic disorders including their clinical spectrum and natural history. II.
- Conditions
- Tay-Sachs Disease, Porphyria, Erythropoietic, Leukodystrophy, Globoid Cell, Metabolism, Inborn Errors
- Trial name
- NCT00006057
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- National Center for Research Resources (NCRR)
ALSP
Natural History Study in Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, rapidly progressing, genetic, neurodegenerative disease for which no definitive treatment options and limited information on the natural…
- Trial name
- ALSP (NCT05020743)
- Testing
- No intervention
- Where
- 12 sites in United States, Brazil and 4 more
- Volunteers
- 56 people
- Sponsor
- Vigil Neuroscience, Inc.
Late Infantile Metachromatic Leukodystrophy
Open-Label Extension Study of Recombinant Human Arylsulfatase A (HGT-1111) in Late Infantile MLD
This is a multi-center, open-label, extension study of patients with late infantile MLD who have previously completed clinical study HGT-MLD-048 (NCT00633139), defined as the completion of all Week 52 procedures.
- Trial name
- NCT00681811
- Testing
- HGT-1111
- Where
- Denmark
- Volunteers
- 11 people
- Sponsor
- Shire
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
Metachromatic Leukodystrophy
Single Patient Expanded Access Protocol: Metabolic Boost
This is a single patient expanded access protocol to investigate the effects of a second dose of facilitating cell-enhanced hematopoietic stem cell product.
- Trial name
- Boost (NCT02021266)
- Testing
- Enriched Hematopoetic Stem Cell Infusion
- Where
- United States
- Sponsor
- Talaris Therapeutics Inc.
Krabbe Disease
Long-term Follow-up Study to Evaluate Safety and Efficacy of FBX-101 in Krabbe Patients
This is an observational study that will enroll any patients with Krabbe disease that have participated in prior interventional clinical trials involving the administration of FBX-101.
- Trial name
- NCT06308718
- Testing
- FBX-101
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Forge Biologics, 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
Genetic Disease, TUBB4A-Related Leukodystrophy
An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy
This current study is aimed for the treatment of an individual participant with a form of TUBB4A-related leukodystrophy with hypomyelination.
- Trial name
- ASOTUBB4A (NCT07222371)
- Testing
- nL-TUBB4-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of California, San Diego
Krabbe Disease
Krabbe Disease Global Patient Registry
The purpose of this study is to develop a clinical database of individuals diagnosed with Krabbe disease in order to determine which symptoms herald the onset of clinical disease in the various phenotypes of Krabbe disease; to…
- Trial name
- NCT02993796
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- State University of New York at Buffalo
Alexander Disease
Zilganersen Expanded Access Program for Individuals With Alexander Disease
The purpose of the expanded access program (EAP) is to provide access to zilganersen for eligible individuals with Alexander disease (AxD).
- Trial name
- NCT07487389
- Testing
- zilganersen
- Sponsor
- Ionis Pharmaceuticals, Inc.
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
Metachromatic Leukodystrophy
Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy
Objectives/Purpose: To determine the safety and efficacy of a Vitamin K (Vit K) antagonist (warfarin) in treating Metachromatic Leukodystrophy (MLD).
- Trial name
- NCT00683189
- Testing
- Warfarin
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- The Cooper Health System
Metachromatic Leukodystrophy
Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy
The objective of this open-label, single arm, monocentric, phase I/II clinical study is to assess safety and efficacy of ARSA gene transfer in the brain of children affected with early onset forms of Metachromatic Leukodystrophy…
- Trial name
- TG-MLD (NCT01801709)
- Testing
- intracerebral administration of AAVrh.10cuARSA
- Where
- France
- Volunteers
- 5 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Canavan Disease
Natural History Study of Patients With Canavan Disease (CANinform Study)
This study uses medical records that allow retrospective data extraction of critical milestone and motor function data. In addition, prospective assessments collect data relevant to the natural history of Canavan disease in…
- Trial name
- NCT04126005
- Where
- 3 sites in United States, Germany
- Volunteers
- 67 people
- Sponsor
- Aspa Therapeutics