Clinical trials: Storage Disease
Fabry Disease
Open-Label Expanded Access Treatment With Pegunigalsidase Alfa for Fabry Disease Patients
The objective of this treatment protocol is to provide guidance to Treating Physicians who seek access to pegunigalsidase alfa for Fabry patients whose clinical condition, in the opinion of the Treating Physician, requires…
- Trial name
- NCT04552691
- Testing
- Pegunigalsidase Alfa
- Where
- 11 sites in United States
- Sponsor
- Chiesi Farmaceutici S.p.A.
Parkinson Disease
Phase 1/2a Clinical Trial of PR001 (LY3884961) in Patients With Parkinson's Disease With at Least One GBA1 Mutation (PROPEL)
Study J3Z-MC-OJAA is a Phase 1/2a, multicenter, open-label, ascending dose, first in-human study that will evaluate the safety of intracisternal LY3884961 administration in patients with moderate to severe Parkinson's disease…
- Trial name
- NCT04127578
- Testing
- LY3884961, Methylprednisolone, Sirolimus
- Where
- 15 sites in United States, Israel
- Volunteers
- 32 people
- Sponsor
- Prevail Therapeutics
Fabry Disease
PK/PD Study of 2 Agalsidase Formulations in Single Dose of 1 mg/kg Administered to Healthy Volunteers as IV Infusion
Pharmacokinetic/Pharmacodynamic Study of 2 agalsidase beta Formulations in Single Dose Administered to Healthy Volunteers as intravenous infusion, at a concentration of 1 mg/kg
- Trial name
- NCT05343715
- Testing
- Agalsidase beta from Biosidus 1 mg/kg, Fabrazyme (agalsidase beta) 1 mg/kg
- Where
- Argentina
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Bio Sidus SA
Gaucher Disease, Type 3
Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Gaucher disease has been classified into 3 clinical subtypes based on the presence or absence of neurological…
- Trial name
- NCT01685216
- Testing
- velaglucerase alfa
- Where
- 5 sites in Egypt, India and 1 more
- Volunteers
- 7 people
- Sponsor
- Shire
Niemann-Pick Disease, Type C1
Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann-Pick Disease Type C
The purpose of this study is to provide continued access to treatment for NPC-1 after participation and completion of the Phase I trial CTD-TCNPC-101, when administered at doses of 1500 mg/kg and 2500 mg/kg by slow IV infusion…
- Trial name
- NCT03893071
- Testing
- Hydroxypropyl-β-cyclodextrin
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Cyclo Therapeutics, Inc.
Fabry Disease
Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients
This is the first human treatment with PRX-102, an enzyme being developed as a long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease (alpha galactosidase deficiency).
- Trial name
- NCT01678898
- Testing
- PRX-102
- Where
- 14 sites in United States, Australia and 4 more
- Volunteers
- 18 people
- Sponsor
- Protalix
Hepatitis B, Chronic
A Retrospective Biomarker Study of Stored Samples Obtained From Patients With Chronic Hepatitis B
This retrospective study will evaluate the association of biomarkers and the treatment response of patients with chronic hepatitis B, who have completed therapy with Pegasys (peginterferon alfa-2a) ± lamivudine.
- Trial name
- NCT01705704
- Where
- 27 sites in Australia, France and 8 more
- Volunteers
- 269 people
- Sponsor
- Hoffmann-La Roche
Fabry Disease
Open Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment-Naive Subjects With Classic Fabry Disease
This was a multinational, open-label study to assess the efficacy and safety of AVR-RD-01 in approximately 15 male subjects, who were 16 years of age or older and postpubertal with a confirmed diagnosis of classic Fabry disease…
- Trial name
- NCT03454893
- Testing
- AVR-RD-01
- Where
- 5 sites in United States, Australia and 1 more
- Volunteers
- 15 people
- Sponsor
- AVROBIO
Mucopolysaccharidosis III-B
A Long-term Follow-up Study of Patients With MPS IIIB Treated With ABO-101
This is a multicenter, non-interventional, long-term follow-up (LTFU) study in participants who have been treated with ABO-101 in a prior trial.
- Trial name
- NCT04655911
- Testing
- ABO-101
- Where
- 3 sites in United States, France and 1 more
- Volunteers
- 1 people
- Sponsor
- Abeona Therapeutics, Inc
Hurler Syndrome, Inherited Metabolic Disorder
BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study
Providing access of BPX-501 gene modified T cells and rimiducid to pediatric patients who do not meet the eligibility criteria of the BP-U-004 study.
- Conditions
- Hurler Syndrome, Inherited Metabolic Disorder, Lysosomal Storage Disorder, Metachromatic Leukodystrophy
- Trial name
- NCT03639844
- Testing
- rivogenlecleucel, rimiducid
- Where
- 2 sites in United States
- Sponsor
- Bellicum Pharmaceuticals
Mucopolysaccharidosis VI
Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VI
The purpose of the study is evaluate the efficacy, safety, and pharmacokinetics of weekly intravenous infusions of 1 mg/kg recombinant human N-acetylgalactosamine 4-sulfatase (rhASB) in patients diagnosed with…
- Trial name
- NCT00048711
- Testing
- N-acetylgalactosamine 4-sulfatase
- Where
- United States
- Sponsor
- BioMarin Pharmaceutical
Fabry Disease
China Post-marketing Surveillance (PMS) Study of Fabrazyme®
This is a 54-week Phase 4, open label, single arm study to evaluate the safety and the efficacy of Fabrazyme (agalsidase beta) as enzyme replacement therapy (ERT) in Chinese participants with Fabry Disease.
- Trial name
- NCT05054387
- Testing
- Agalsidase beta
- Where
- 6 sites in China
- Volunteers
- 22 people
- Sponsor
- Genzyme, a Sanofi Company
Gaucher Disease, Type 3
An Efficacy and Safety Study of AVR-RD-02 Compared to Enzyme Replacement Therapy for Treatment of Gaucher Disease Type 3
The purpose of this study is to evaluate the efficacy and safety of autologous hemotopoietic stem cell (HSC) gene therapy, AVR-RD-02, compared to enzyme replacement therapy, for the treatment of Gaucher disease Type 3 in male and…
- Trial name
- NCT05815004
- Testing
- Gene therapy, Enzyme Replacement Agent
- Sponsor
- AVROBIO
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
Gaucher Disease Type 1, Gaucher Disease Type 3
Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension
Part 1: Biomarker evaluation/screening phase Primary Objectives: Evaluate cerebrospinal fluid (CSF) biomarkers in adult Gaucher disease Type 3 (GD3) participants that distinguish GD3 from adult Gaucher disease Type 1 (GD1)…
- Trial name
- LEAP (NCT02843035)
- Testing
- venglustat (GZ402671), imiglucerase
- Where
- 7 sites in United States, Germany and 2 more
- Volunteers
- 12 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease Type II
A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)
Primary Objective: To describe the effect of routine practice with alglucosidase alfa in patients with IOPD ≤6 months of age, on invasive ventilation-free survival after 52 weeks of treatment.
- Trial name
- NCT04848779
- Testing
- Alglucosidase alfa GZ419829
- Where
- 15 sites in United States, Belgium and 7 more
- Volunteers
- 16 people
- Sponsor
- Sanofi
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
Gaucher Disease, Gaucher Disease Type 1
Study of Velaglucerase Beta ERT in Children With Gaucher Disease
This is a Phase 3, multicenter, open-label, single-arm study to evaluate the safety, efficacy, PK, PD, and immunogenicity of velaglucerase beta in untreated children with GD1 or GD3 for 39 weeks.
- Conditions
- Gaucher Disease, Gaucher Disease Type 1, Gaucher Disease Type 3
- Trial name
- NCT07847411
- Testing
- Velaglucerase beta
- Where
- China
- Volunteers
- 10 people
- Sponsor
- CANbridge Life Sciences Ltd.
Gaucher Disease, Cerebroside Lipidosis Syndrome
International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry
The ICGG Gaucher Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Gaucher disease, irrespective of treatment status.
- Conditions
- Gaucher Disease, Cerebroside Lipidosis Syndrome, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease
- Trial name
- NCT00358943
- Where
- 317 sites in United States, Argentina and 50 more
- Volunteers
- 12,000 people
- Sponsor
- Genzyme, a Sanofi Company
Gaucher's Disease Type I
A Study to Evaluate Absolute Bioavailability, Absorption, Metabolism, and Excretion of Genz-112638 in Healthy Male Participants
Objectives: To determine pharmacokinetic (PK) variables, including absolute bioavailability (F), of Genz-99067, the free base of the L-tartaric acid salt of Genz-112638 as it exists in plasma, after a single intravenous (IV) dose…
- Trial name
- NCT06143904
- Testing
- Genz-112638, [14C]-Genz-112638
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Sanofi