Clinical trials: Lysosomal Storage Disease
Fabry Disease
A Study of Replagal in Children and Adults With Fabry Disease in India
The main aim of this study is to learn more about the safety profile of Replagal. Participants will receive Replagal every 2 weeks at the clinic for about 1 year.
- Trial name
- NCT05067868
- Testing
- Replagal
- Where
- 3 sites in India
- Volunteers
- 5 people
- Sponsor
- Shire
Fibrodysplasia Ossificans Progressiva, FOP
A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
This study is researching an experimental drug called garetosmab, referred to as "study drug". The study is focused on children and adolescent participants with FOP.
- Trial name
- OPTIMA-2 (NCT07559513)
- Testing
- garetosmab
- Volunteers
- 18 people
- Sponsor
- Regeneron Pharmaceuticals
Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD)
Natural History Study of Children With Metachromatic Leukodystrophy
The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).
- Conditions
- Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD), Nervous System Diseases, Brain Diseases
- Trial name
- NCT01963650
- Where
- 14 sites in United States, Argentina and 8 more
- Volunteers
- 1 people
- Sponsor
- Shire
Mucopolysaccharidosis I
Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I
AGT-181 is a fusion protein containing alpha-L-iduronidase that is intended to deliver the enzyme peripherally and to the brain, when administered intravenously.
- Trial name
- NCT03053089
- Testing
- AGT-181
- Where
- Brazil
- Volunteers
- 21 people
- Sponsor
- ArmaGen, Inc
Gaucher Disease
Phase I Single Dose-Escalation Safety Study of Human Glucocerebrosidase (prGCD)
Gaucher disease, the most prevalent lysosomal storage disorder, is caused by mutations in the human glucocerebrosidase gene (GCD)leading to reduced activity of the lysosomal enzyme glucocerebrosidase and thereby to the…
- Trial name
- NCT00258778
- Testing
- Human Glucocerebrosidase (prGCD)
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Protalix
Fabry Disease
Physician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry Disease
This program allows physicians to request permission from Amicus Therapeutics (Amicus) for treatment access to migalastat hydrochloride (HCl) for specific patients with Fabry disease. Treatment is open label.
- Trial name
- NCT01476163
- Testing
- migalastat HCl 150 mg, migalastat HCl 20 mg
- Sponsor
- Amicus Therapeutics
Hepato-splenomegaly, Dysostosis Multiplex
Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of GM1/GM2 from blood
- Conditions
- Hepato-splenomegaly, Dysostosis Multiplex, Seizures, Mental Retardation
- Trial name
- BioGM1/BioGM2 (NCT02298647)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Bloating
A Study to Evaluate OPTI-BIOME™ Bacillus Subtilis MB40 on Abdominal Discomfort, Gas and Bloating in a Healthy Population
The purpose of this study is to investigate the effects of OPTI-BIOME™ (Bacillus subtilis MB40), a probiotic supplement, on bloating, gas and abdominal discomfort symptoms in otherwise healthy adults.
- Trial name
- NCT02950012
- Testing
- OPTI-BIOME™ Bacillus subtilis MB40
- Where
- 3 sites in United States, Canada
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- BIO-CAT Microbials, LLC
Mucopolysaccharidosis VI, Maroteaux-Lamy Syndrome
A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI
The purpose of the study is to evaluate the safety and efficacy of two dose levels of Naglazyme in infants under the age of one year who have MPS VI by monitoring physical appearance, x-ray of the skeletal system and growth.
- Trial name
- NCT00299000
- Testing
- Naglazyme
- Where
- 4 sites in United States, France and 1 more
- Volunteers
- 4 people
- Sponsor
- BioMarin Pharmaceutical
Fabry Disease
Safety and Efficacy of PRX-102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa)
This is an open label switch over study to assess the safety and efficacy of PRX-102 (pegunigalsidase alfa). Patients treated with agalsidase alfa for at least 2 years and on a stable dose (>80% labelled dose/kg) for at least 6…
- Trial name
- NCT03018730
- Testing
- PRX-102 (pegunigalsidase alfa)
- Where
- 9 sites in Australia, Canada and 5 more
- Volunteers
- 22 people
- Sponsor
- Protalix
Fabry Disease
Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease
The main goals of this clinical study are to characterize safety and PK/PD of AMT-191 i.e. if drug doses used in the study are safe and tolerable and to understand how it acts in the body of people with Fabry disease.
- Trial name
- NCT06270316
- Testing
- AMT-191
- Where
- 10 sites in United States
- Volunteers
- 20 people
- Sponsor
- UniQure Biopharma B.V.
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
Mucopolysaccharidosis II
An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007
This is a multiregional open-label extension (OLE) to assess the safety, tolerability, and efficacy of long-term treatment with tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant intravenous…
- Trial name
- NCT06075537
- Testing
- tividenofusp alfa
- Where
- 30 sites in United States, Argentina and 12 more
- Volunteers
- 99 people
- Sponsor
- Denali Therapeutics Inc.
Inherited Metabolic Disorders IMD
Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)
This study is designed to assess the safety and exploratory efficacy of using HSC835 in patients with Inherited Metabolic Disorders (IMD) undergoing stem cell transplantation.
- Trial name
- NCT02715505
- Testing
- Umbilical cord blood transplantation with HSC835
- Sponsor
- Novartis Pharmaceuticals
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.
Fabry Disease
Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients
The objective of this study is to increase the understanding surrounding the choices presented to patients and families impacted by Fabry disease.
- Trial name
- NCT04804566
- Testing
- This is a non-interventional study
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Amicus Therapeutics
Gaucher Disease
A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Primary Objective: To study the effect of mild and moderate hepatic impairment on the pharmacokinetics (PK) of eliglustat. Secondary Objective: To assess the tolerability of eliglustat tartrate given as a single dose in subjects…
- Trial name
- NCT02536911
- Testing
- eliglustat
- Where
- 2 sites in United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
A Study of Replagal in Treatment-naïve Adults With Fabry Disease
In this study, adults with Fabry Disease who have not had any treatment for this condition will be treated with Replagal. The main aim of the study is to check if Replagal improves kidney function and heart structure of…
- Trial name
- NCT04840667
- Testing
- REPLAGAL
- Where
- 28 sites in Canada, Finland and 6 more
- Volunteers
- 17 people
- Sponsor
- Shire
Fabry Disease
Evaluate the Safety and Exploratory Efficacy of GC1119
The purpose of this study is to evaluate the safety and exploratory efficacy of GC1119 (recombinant human α-galactosidase A) for enzyme replacement therapy in Fabry disease patients.
- Trial name
- NCT01653444
- Testing
- GC1119
- Where
- 3 sites in South Korea
- Volunteers
- 8 people
- Sponsor
- Green Cross Corporation
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