Clinical trials: Lysosomal Storage Diseases
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
Leukodystrophy, Globoid Cell
Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease
PBKR03 is a gene therapy for Krabbe Disease (Globoid cell leukodystrophy) intended to deliver a functional copy of the GALC gene to the brain and peripheral tissues.
- Trial name
- GALax-C (NCT04771416)
- Testing
- PBKR03
- Where
- 9 sites in United States, Brazil and 4 more
- Volunteers
- 24 people
- Sponsor
- Gemma Biotherapeutics
Neonatal Screening, Lysosomal Storage Diseases
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected.
- Trial name
- LysoNeo (NCT04393701)
- Testing
- Additional blood sampling
- Where
- 2 sites in France
- Volunteers
- 100,000 people
- Sponsor
- University Hospital, Rouen
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Registry of Patients Diagnosed With Lysosomal Storage Diseases
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI
- Trial name
- LSD Registry (NCT05619900)
- Testing
- There is no intervention
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- University of California, San Francisco
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
Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease
Lysosomal Acid Lipase (LAL) Deficiency Registry
This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treatment of patients with LAL Deficiency.
- Conditions
- Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease, Wolman Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
- Trial name
- ALX-LALD-501 (NCT01633489)
- Where
- 104 sites in United States, Australia and 20 more
- Volunteers
- 300 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
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
Mucolipidosis Type IV
The Natural History of Mucolipidosis Type IV
The purpose of this study is to define the natural history of Mucolipidosis Type IV and identify potential clinical outcome measures.
- Trial name
- NCT01067742
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Baylor Research Institute
Genetic Disease, Inborn Errors of Metabolism
Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders.
- Conditions
- Genetic Disease, Inborn Errors of Metabolism, Glycogen Storage Disease, Lysosomal Storage Diseases
- Trial name
- NCT04399694
- Where
- United States
- Volunteers
- 56 people
- Sponsor
- Duke University
Lysosomal Storage Disease, Metachromatic Leukodystrophy
Gene Therapy for Metachromatic Leukodystrophy (MLD)
This Phase I/II clinical trial consists of the application of lentiviral vector-based gene therapy to patients affected by Metachromatic Leukodystrophy (MLD), a rare inherited Lysosomal Storage Disorder (LSD) resulting from…
- Trial name
- NCT01560182
- Testing
- OTL-200 Gene Therapy
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Orchard Therapeutics
Krabbe Disease
Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT
This is a non-blinded, non-randomized dose escalation study of intravenous FBX-101 in which subjects will receive a single infusion of an adeno-associated virus gene therapy product, after more than 21 days of the HSCT (UCBT…
- Trial name
- REKLAIM (NCT05739643)
- Testing
- FBX-101
- Where
- 3 sites in United States
- Volunteers
- 9 people
- Sponsor
- Forge Biologics, Inc
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.
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
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
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
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
Hunter Syndrome
An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment
This extension study of HGT-HIT-045 is designed to collect long-term safety data in pediatric participants with Hunter syndrome and cognitive impairment who are receiving intrathecal (IT) idursulfase-IT and intravenous (IV)…
- Trial name
- NCT01506141
- Testing
- Idursulfase-IT, Elaprase
- Where
- 9 sites in United States, Canada and 1 more
- Volunteers
- 15 people
- Sponsor
- Takeda
Fabry Disease
4D-310 in Adults With Fabry Disease and Cardiac Involvement
This is a prospective multicenter, open-label, dose-escalation trial to assess the safety, tolerability, and pharmacodynamics of 4D-310 following a single IV administration.
- Trial name
- NCT05629559
- Testing
- 4D-310
- Where
- 4 sites in Australia, Taiwan
- Volunteers
- 18 people
- Sponsor
- 4D Molecular Therapeutics
Mucopolysaccharidosis Type II (MPS II)
CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)
RGX-121 is a gene therapy which is intended to deliver a functional copy of the iduronate-2-sulfatase gene (IDS) to the central nervous system.
- Trial name
- NCT03566043
- Testing
- RGX-121
- Where
- 5 sites in United States, Brazil
- Volunteers
- 48 people
- Sponsor
- REGENXBIO Inc.