Clinical trials: GM1 Gangliosidosis
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.
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)
Niemann-Pick Type C Disease, GM1 Gangliosidosis
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
An 18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of Niemann-Pick type C disease and in…
- Conditions
- Niemann-Pick Type C Disease, GM1 Gangliosidosis, GM2 Gangliosidosis
- Trial name
- NCT07054515
- Testing
- AZ-3102
- Where
- 39 sites in United States, Argentina and 15 more
- Volunteers
- 147 people
- Sponsor
- Azafaros B.V.
Gangliosidoses, GM2, Gangliosidosis, GM1
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis
An 18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of GM1 gangliosidosis or GM2…
- Trial name
- NCT07082543
- Testing
- AZ-3102
- Where
- 27 sites in United States, Argentina and 12 more
- Volunteers
- 75 people
- Sponsor
- Azafaros B.V.
Lysosomal Diseases, Gangliosidosis
A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis
Background: GM1 gangliosidosis is a disorder that destroys nerve cells. It is fatal. There is no treatment. People with GM1 are deficient in a certain enzyme. A gene therapy may help the body make this enzyme.
- Conditions
- Lysosomal Diseases, Gangliosidosis, GM1
- Trial name
- NCT03952637
- Testing
- AAV9-GLB1, Abdominal ultrasound, Rituximab
- Where
- United States
- Volunteers
- 54 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
GM1 Gangliosidoses, GM1 Gangliosidosis, Type I
Prenatal Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis Clinical Trial
This is a study for the administration of in utero AAV9 transfer in prenatally diagnosed Type I or Type II GM1.
- Conditions
- GM1 Gangliosidoses, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2
- Trial name
- NCT07479953
- Testing
- Gene Transfer with an AAV9 Vector Expressing Human ß-galactosidase
- Volunteers
- 5 people
- Sponsor
- Tippi Mackenzie
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
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I
Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
PBGM01 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues.
- Conditions
- GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
- Trial name
- Imagine-1 (NCT04713475)
- Testing
- PBGM01
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 26 people
- Sponsor
- Gemma Biotherapeutics
Tay-Sachs Disease, Sandhoff Disease
A Natural History Study of the Gangliosidoses
Hypothesis: To characterize and describe disease progression and heterogeneity of the gangliosidosis diseases. This research study seeks to develop a quantitative method to delineate disease progression for the gangliosidosis…
- Conditions
- Tay-Sachs Disease, Sandhoff Disease, Late Onset Tay-Sachs Disease, GM1 Gangliosidosis
- Trial name
- NCT00668187
- Where
- United States
- Volunteers
- 52 people
- Sponsor
- University of Minnesota
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
Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients
Owing to the rarity, severity, speed of progression and fatal prognosis of infantile and juvenile GM1, there is a limited understanding of overall disease progression and meaningful outcome measures.
- Trial name
- NCT04041102
- Where
- 6 sites in United States, Brazil and 3 more
- Volunteers
- 31 people
- Sponsor
- University of Pennsylvania
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.
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Brain Metastases, Radiotherapy Side Effect
GM1 Prophylaxis for WBRT Related Cognitive Dysfunction
To evaluate the efficacy and safety of GM1 for preventing cognitive impairment related to whole brain radiotherapy in breast cancer patients with brain metastases.
- Conditions
- Brain Metastases, Radiotherapy Side Effect, Cognitive Impairment, Gangliosidosis, GM1
- Trial name
- GLORY (NCT04395339)
- Testing
- Monosialotetrahexosyl ganglioside (GM1), Control
- Where
- China
- Volunteers
- 51 people
- Sponsor
- Sun Yat-sen University
GM1 Gangliosidosis
A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 Gangliosidosis
LYS-GM101 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the central nervous system.
- Trial name
- NCT04273269
- Testing
- LYS-GM101
- Where
- 3 sites in United States, France and 1 more
- Volunteers
- 5 people
- Sponsor
- LYSOGENE
GM1 Gangliosidosis
Interviews and Video Capture in Patients With GM1 Gangliosidosis
GM1 gangliosidosis is a rare disease for which there is a limited understanding of disease progression and meaningful outcome measures.
- Trial name
- NCT04310163
- Testing
- Natural history
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- LYSOGENE
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.
GM1 Gangliosidoses, GM2 Gangliosidoses
Synergistic Enteral Regimen for Treatment of the Gangliosidoses
The investigators hypothesize that a combination therapy using miglustat and the ketogenic diet for infantile and juvenile patients with gangliosidoses will create a synergy that 1) improves overall survival for patients with…
- Conditions
- GM1 Gangliosidoses, GM2 Gangliosidoses, Tay-Sachs Disease, Sandhoff Disease
- Trial name
- Syner-G (NCT02030015)
- Testing
- miglustat, Ketogenic Diet
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- University of Minnesota
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)
Morquio B Disease, GM1 Gangliosidosis Type III
Natural History of Morquio B and Late-Onset of GM1 Gangliosidosis
Mucopolysaccharidosis type IVB (Morquio-B disease, MBD) is an autosomal-recessive lysosomal disease caused by mutations in a gene called GLB1.
- Trial name
- NCT04320329
- Where
- Canada
- Volunteers
- 30 people
- Sponsor
- University of British Columbia