Clinical trials: Lysosomal Storage Disease
Fabry Disease
A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease
No investigational drug will be administered in this study for the treatment of Fabry disease. This will be a multicenter, multinational, non-treatment, cross-sectional study of young male patients with Fabry disease who have not…
- Trial name
- NCT01839526
- Testing
- Iohexol
- Where
- 22 sites in United States, Argentina and 12 more
- Volunteers
- 39 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis III-B
An Open-label Phase I/II Study of JR-446 in Mucopolysaccharidosis Type IIIB
A Phase I/ II, open-label study, designed to evaluate the safety and explore efficacy of the study drug in development for the treatment of MPS IIIB patients.
- Trial name
- NCT06488924
- Testing
- JR-446
- Where
- 4 sites in Japan
- Volunteers
- 10 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Gaucher Disease
Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase
This is a multi-center, open-label, switchover trial to assess the safety of taliglucerase alfa in 30 patients with Gaucher disease who are currently being treated with imiglucerase (Cerezyme®) enzyme replacement therapy.
- Trial name
- NCT00712348
- Testing
- Taliglucerase alfa
- Where
- 10 sites in United States, Australia and 4 more
- Volunteers
- 31 people
- Sponsor
- Pfizer
Glycogen Storage Disease Type II
Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa
This is a single group, treatment, Phase 3, open-label study to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in treatment-naïve male and female participants with IOPD.
- Trial name
- Baby-COMET (NCT04910776)
- Testing
- avalglucosidase alfa
- Where
- 16 sites in United States, Belgium and 7 more
- Volunteers
- 17 people
- Sponsor
- Sanofi
Gaucher Disease
Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Completed Phase 2 or Phase 3 Studies
Primary Objective: Evaluate long term skeletal response to eliglustat in adult participants who successfully completed one of the Phase 2 or Phase 3 eliglustat studies.
- Trial name
- EXOSKEL (NCT02536755)
- Testing
- Eliglustat, GZ385660
- Where
- 4 sites in Canada, Russia and 1 more
- Volunteers
- 31 people
- Sponsor
- Genzyme, a Sanofi Company
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
Hunter Syndrome
A Study of Elaprase in Children and Adults With Hunter Syndrome (Mucopolysaccharidosis II) in India
The main aim of this study is to learn more about the safety profile of Elaprase in Indian children and adults with hunter syndrome.
- Trial name
- NCT05058391
- Testing
- Elaprase
- Where
- 5 sites in India
- Volunteers
- 5 people
- Sponsor
- Takeda
Gaucher Disease, Type 1, Cerebroside Lipidosis Syndrome
Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease
This is a multicenter, randomized trial to compare the safety and efficacy of two dosing frequencies of Cerezyme® in patients with Gaucher disease who are currently being treated with Cerezyme®.
- Conditions
- Gaucher Disease, Type 1, Cerebroside Lipidosis Syndrome, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease
- Trial name
- NCT00364858
- Testing
- Cerezyme
- Where
- 26 sites in United States, Brazil and 5 more
- Volunteers
- 95 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis II
A Study of Potential Treatment-Responsive Biomarkers and Clinical Outcomes in Hunter Syndrome
This is a six-part prospective, multicenter, multiregional observational study of patients with mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, to assess biomarkers potentially related to disease severity…
- Trial name
- NCT04007536
- Testing
- No Intervention
- Where
- 6 sites in United States, Netherlands and 1 more
- Volunteers
- 18 people
- Sponsor
- Denali Therapeutics Inc.
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
Infantile Globoid Cell Leukodystrophy
The Natural History of Infantile Globoid Cell Leukodystrophy
The purpose of this natural history study is to understand more about the progression of infantile Krabbe disease, a very rare genetic disease. There is very little published longitudinal data with only anecdotal cases.
- Trial name
- NCT00983879
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Zymenex A/S
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
Sanfilippo Syndrome
Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA)
Sanfilippo syndrome, or Mucopolysaccharidosis (MPS) III, is a rare lysosomal storage disease (LSD) caused by loss in activity of 1 of 9 enzymes necessary for degradation of the glycosaminoglycan (GAG) heparan sulfate (HS) in…
- Trial name
- NCT01299727
- Testing
- rhHNS-10 mg, rhHNS-45 mg, rhHNS-90 mg
- Where
- 2 sites in Netherlands, United Kingdom
- Volunteers
- 12 people
- Sponsor
- Shire
Mucopolysaccharidosis (MPS)
A Study to Improve the Awareness of Mucopolysaccharidosis Type II in Brazil
The main aims of the study are to learn about the percentage of mucopolysaccharidosis type II (MPS II) in adults in Brazil as well as about the diagnosis process. No study medicines will be provided to participants in this study.
- Trial name
- NCT05155488
- Testing
- No Intervention
- Where
- Brazil
- Volunteers
- 250 people
- Sponsor
- Takeda
MPS I, MPS1-S
Safety and Efficacy of Encapsulated Allogeneic MPS-1 Therapy
SIG-005-121 is a FIH, Phase 1/2, multi-centre, open-label, sequential dose-escalating study to assess the safety, tolerability, and preliminary efficacy of SIG-005 in adults with MPS-1.
- Conditions
- MPS I, MPS1-S, MPS1-HS
- Trial name
- NCT05665036
- Testing
- SIG-005 (hIDUA Producing Spheres)
- Where
- 3 sites in Brazil, United Kingdom
- Sponsor
- Sigilon Therapeutics, Inc.
Pompe Disease Infantile-Onset, Glycogen Storage Disease Type II
Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies
This extension study was to monitor the long-term safety and efficacy of rhGAA treatment in patients with infantile-onset Pompe disease who were previously treated with rhGAA derived from the Synpac cell line
- Trial name
- NCT00763932
- Testing
- Myozyme
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 7 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGalactosidase A in Patients With Fabry Disease
Six patients with Fabry disease will be recruited. Patients will receive a single dose of 0.2 mg/kg recombinant human alpha-galactosidase A produced in moss (moss-aGal) as intravenous infusion.
- Trial name
- NCT02995993
- Testing
- Moss-aGal (recombinant human alpha-galactosidase A produced in moss)
- Where
- 2 sites in Germany
- Volunteers
- 6 people
- Sponsor
- Greenovation Biotech GmbH
Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II)
A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00158600
- Testing
- alglucosidase alfa
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 90 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease
The purpose of this study is to observe the safety of agalsidase alfa in Canadian patients with Fabry disease.
- Trial name
- NCT01298141
- Testing
- agalsidase alfa
- Where
- 12 sites in Canada
- Volunteers
- 171 people
- Sponsor
- Shire
Fabry Disease
Open-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 Study
Study to evaluate the long-term safety, tolerability, and pharmacodynamics (PD) of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease
- Trial name
- NCT00526071
- Testing
- migalastat HCl
- Where
- 8 sites in United States, Australia and 3 more
- Volunteers
- 23 people
- Sponsor
- Amicus Therapeutics