Clinical trials: X-Linked Adrenoleukodystrophy (X-ALD)
Hematologic Malignancies, Inborn Errors of Metabolism Disorders
Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants
The objective of this study is to make T-cell depleted stem cells from a family member who is a half match (haplo-identical) available on an expanded access basis to patients receiving one or two unrelated cord blood transplants…
- Conditions
- Hematologic Malignancies, Inborn Errors of Metabolism Disorders, Immune Deficiencies
- Trial name
- NCT01881334
- Testing
- CliniMACS CD34 Reagent System
- Where
- United States
- Sponsor
- Joanne Kurtzberg, MD
Hereditary Spastic Paraplegia, Adrenomyeloneuropathy
Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy
Hereditary spastic paraplegia (HSP) is the group of inherited disorders, characterized by progressive gait disturbance. There is no established therapy. Adrenoleukodystrophy (AMN) is an x-linked hereditary disease.
- Trial name
- NCT03627416
- Testing
- rTMS
- Where
- Poland
- Volunteers
- 15 people
- Sponsor
- Jakub Antczak
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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
Adrenoleukodystrophy
Newborn Screening for Adrenoleukodystrophy
To test if the routine newborn screening dried blood spots can be used to test if elevation of C26:0 lysophosphatidylcholine (C26:0-lyso-PC), a status indicating adrenoleukodystrophy (ALD)
- Trial name
- NCT02952482
- Testing
- newborns testing for ALD
- Where
- Taiwan
- Volunteers
- 45,796 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Cerebral Adrenoleukodystrophy (CALD)
A Study of Participants With Cerebral Adrenoleukodystrophy (CALD) Treated With Elivaldogene Autotemcel
The main aim of this study is to assess and describe the safety outcomes, including newly diagnosed malignancies, of patients with CALD treated with eli-cel in the post-marketing setting (tradename Skysona) and to describe major…
- Trial name
- Stargazer (NCT06224413)
- Testing
- No Intervention
- Where
- 3 sites in United States
- Volunteers
- 120 people
- Sponsor
- Genetix Biotherapeutics Inc.
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
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.
X-linked Adrenoleukodystrophy
IT and IV Lentiviral Gene Therapy for X-ALD
This is a Phase I/II clinical trial of gene therapy for treating X-linked adrenoleukodystrophy using a high-safety, high-efficiency, self-inactivating lentiviral vector (LV) TYF-ABCD1 to functionally correct the defective gene.
- Trial name
- NCT03727555
- Testing
- Intrathecal and intravenous LV gene therapy
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Adrenoleukodystrophy
Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the clinical efficacy of combination glyceryl trierucate and glyceryl trioleate (Lorenzo's Oil) therapy in boys with X-linked adrenoleukodystrophy. II.
- Trial name
- NCT00004418
- Testing
- glyceryl trierucate/glyceryl trioleate
- Where
- 2 sites in United States
- Volunteers
- 126 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
AMN, AMN Gene Mutation
Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
The course of AMN-related disabilities over time is poorly or incompletely understood due to a limited number of patients and lack of treatments.
- Conditions
- AMN, AMN Gene Mutation, X-ALD
- Trial name
- CYGNET (NCT05008874)
- Testing
- Natural History Observation
- Where
- 6 sites in United States, Germany and 1 more
- Volunteers
- 65 people
- Sponsor
- SwanBio Therapeutics, Inc.
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
ALD (Adrenoleukodystrophy)
Study to Assess PXL065 in Subjects With Adrenomyeloneuropathy (AMN) Form of X-linked Adrenoleukodystrophy (X-ALD or ALD)
A randomized open-label Phase 2a study to assess the pharmacokinetics and pharmacodynamic parameters of PXL065 after 12 weeks of treatment in male subjects with adrenomyeloneuropathy (AMN).
- Trial name
- NCT05200104
- Testing
- PXL065
- Sponsor
- Poxel SA
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
Mucopolysaccharidosis Disorders, Hurler Syndrome
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based…
- Conditions
- Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome
- Trial name
- NCT02171104
- Testing
- Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen
- Where
- United States
- Volunteers
- 149 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Cerebral Adrenoleukodystrophy (CALD)
A Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
This trial assessed the efficacy and safety of autologous cluster of differentiation 34 (CD34+) hematopoietic stem cells, transduced ex-vivo with Lenti-D lentiviral vector (also called elivaldogene autotemcel or eli-cel), for the…
- Trial name
- NCT01896102
- Testing
- Lenti-D Drug Product (eli-cel)
- Where
- 8 sites in United States, Argentina and 4 more
- Volunteers
- 32 people
- Sponsor
- Genetix Biotherapeutics Inc.
Mucopolysaccharidosis, Hurler Syndrome
Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
Rationale: Chemotherapy administration before a donor stem cell transplant is necessary to stop the patient's immune system from rejecting the donor's stem cells.
- Conditions
- Mucopolysaccharidosis, Hurler Syndrome, Hunter Syndrome, Maroteaux-Lamy Syndrome
- Trial name
- NCT01043640
- Testing
- Campath-1H, Cyclophosphamide, Busulfan
- Where
- United States
- Volunteers
- 46 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Adrenoleukodystrophy
A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients
This is a Phase II/III, randomized, double-blind, placebo-controlled, multicenter, two parallel-group study in male patients with the adrenomyeloneuropathy (AMN) phenotype of X-linked adrenoleukodystrophy (X-ALD) to assess the…
- Trial name
- Advance (NCT03231878)
- Testing
- Leriglitazone
- Where
- 10 sites in United States, France and 6 more
- Volunteers
- 116 people
- Sponsor
- Minoryx Therapeutics, S.L.
Adrenoleukodystrophy, Batten Disease
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn…
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell
- Trial name
- DUOC-01 (NCT02254863)
- Testing
- DUOC-01
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Joanne Kurtzberg, MD
Adrenomyeloneuropathy
Study to Assess PXL770 in Subjects With Adrenomyeloneuropathy (AMN) Form of X-linked Adrenoleukodystrophy (X-ALD or ALD)
A randomized open-label Phase 2a study to assess the pharmacokinetics and pharmacodynamic parameters of PXL770 after 12 weeks of treatment in male subjects with adrenomyeloneuropathy (AMN).
- Trial name
- NCT05146284
- Testing
- PXL770
- Sponsor
- Poxel SA