Clinical trials: Tay-Sachs Disease
GM2 Gangliosidosis, Tay-Sachs Disease
N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)
This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of GM2 Gangliosidosis (Tay-Sachs and Sandhoff…
- Conditions
- GM2 Gangliosidosis, Tay-Sachs Disease, Sandhoff Disease
- Trial name
- NCT03759665
- Testing
- IB1001
- Where
- 8 sites in United States, Germany and 2 more
- Volunteers
- 30 people
- Sponsor
- IntraBio Inc
Tay Sachs Disease, Canavan Disease
Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.
The investigators have developed a new website to educate persons of Ashkenazi Jewish ancestry about their increased risk for having children with certain genetic conditions, and the genetic testing the investigators offer.
- Conditions
- Tay Sachs Disease, Canavan Disease, Familial Dysautonomia
- Trial name
- NCT01999257
- Testing
- Online pre-test genetic education tool
- Where
- Canada
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Neurological Regression, Myoclonus
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Study description: This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis.
- Conditions
- Neurological Regression, Myoclonus, Cherry Red Spot, Brain Atrophy
- Trial name
- NCT00029965
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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.
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)
GM1 Gangliosidosis, GM2 Gangliosidosis
Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2).
- Conditions
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease
- Trial name
- RETRIEVE (NCT04470713)
- Where
- 17 sites in United States, Belgium and 8 more
- Volunteers
- 226 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.
Tay-Sachs Disease, Sandhoff Disease
A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease
The AXO-GM2-001 study is an open-label, two-stage clinical trial designed to evaluate safety and dose-escalation (Stage 1) and safety and efficacy (Stage 2) of a bilateral thalamic and intracisternal/intrathecal infusion of…
- Trial name
- NCT04669535
- Testing
- AXO-AAV-GM2 Starting Dose, AXO-AAV-GM2 Low Dose, AXO-AAV-GM2 Middle Dose
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Terence Flotte
Gangliosidoses, GM1 Gangliosidosis
Registry Gangliosidoses
The clinical project "Eight At One Stroke: Attention Gangliosidoses" represents a clinical registry for recording the clinical manifestation and the disease progression of gangliosidoses.
- Conditions
- Gangliosidoses, GM1 Gangliosidosis, Morquio B Disease, Sialidosis
- Trial name
- NCT04624789
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt)
Niemann-Pick Disease Type C, GM2 Gangliosidosis
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
This is an open-label extension trial to evaluate the long-term safety and tolerability of nizubaglustat (AZ-3102) in participants with rare lysosomal disorders who have participated in a previous nizubaglustat trial and wish to…
- Conditions
- Niemann-Pick Disease Type C, GM2 Gangliosidosis, GM1 Gangliosidosis, Gaucher Disease Type 3
- Trial name
- HARBOR (NCT07885917)
- Testing
- AZ-3102
- Volunteers
- 218 people
- Sponsor
- Azafaros B.V.
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
G(M2) Ganglioside, Tay-Sachs Disease Ganglioside
A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis
Adult Tay-Sachs disease and Sandhoff diseases are caused by deficiency of an enzyme called β-hexosaminidase A, or Hex A in short.
- Conditions
- G(M2) Ganglioside, Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside
- Trial name
- NCT00679744
- Testing
- Pyrimethamine
- Where
- 3 sites in United States, Canada
- Sponsor
- Exsar Corporation
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
MLD, Krabbe Disease
Longitudinal Study of Neurodegenerative Disorders
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the…
- Conditions
- MLD, Krabbe Disease, ALD, MPS I
- Trial name
- NCT03333200
- Testing
- Palliative Care, Hematopoetic Stem Cell Transplantation
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- University of Pittsburgh
GM1 Gangliosidosis, Sandhoff Disease
GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)
The study aims to characterize prospectively longitudinal progression of neurological domains in GM1 and GM2 Gangliosidosis patients with high-quality standards (GCP compliant).
- Conditions
- GM1 Gangliosidosis, Sandhoff Disease, Tay-Sachs Disease
- Trial name
- PRONTO (NCT05109793)
- Where
- 13 sites in United States, Brazil and 4 more
- Volunteers
- 31 people
- Sponsor
- Azafaros B.V.
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
Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)
Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD)
Gene Security Network has developed a novel technology called Parental SupportTM (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF).
- Trial name
- IVF008 (NCT01023048)
- Testing
- preimplantation diagnosis
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
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
GM2 Gangliosidosis
A Natural History of Late Onset Tay-Sachs Disease
The purpose of this study is to learn more about the natural history of Late Onset GM2 Gangliosidosis (Tay-Sachs disease and Sandhoff Disease) to inform future clinical trials.
- Trial name
- NCT02851862
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Massachusetts General Hospital