Clinical trials: Gaucher Disease
Parkinson Disease, Idiopathic Parkinson Disease
Study to Determine Mutations in the Gaucher Gene in Patients With Idiopathic Parkinson's Disease for Phenotype-genotype Correlation
The genotype-phenotype correlation in patients with Parkinson's disease with specific mutations in the glucocerebrosidase gene (Gaucher gene) is known from own clinical experiences as well as from case reports in the literature.
- Trial name
- PadGau (NCT01272687)
- Where
- 15 sites in Germany, Thailand
- Volunteers
- 1,500 people
- Sponsor
- CENTOGENE GmbH Rostock
Healthy Participants
A First-in-Human, Single- and Multiple-Ascending Dose Study of YH35995 in Healthy Adult Male Participants
This is a randomized, double-blind, first-in-human study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of single and multiple oral doses of YH35995
- Trial name
- NCT06517914
- Testing
- YH35995
- Where
- South Korea
- Volunteers
- 94 people, healthy volunteers welcome
- Sponsor
- Yuhan Corporation
Gaucher Disease
A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease
A protocol to extend the assessment of the safety and efficacy of taliglucerase alfa in pediatric subjects (2 to <18 years old) with symptoms and clinical manifestations of Gaucher disease who completed treatment in Protocols…
- Trial name
- NCT01411228
- Testing
- Taliglucerase alfa
- Where
- 3 sites in Israel, Paraguay and 1 more
- Volunteers
- 15 people
- Sponsor
- Pfizer
Gaucher Disease
Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease
The primary purpose of this study is to evaluate the effect of VPRIV therapy (60 units per kilogram [U/kg] every other week [EOW]) in treatment-naive participants with type 1 Gaucher disease on change from baseline in lumbar…
- Trial name
- NCT02574286
- Testing
- Velaglucerase alfa, Vitamin D
- Where
- 15 sites in United States, Israel and 2 more
- Volunteers
- 21 people
- Sponsor
- Shire
Gaucher Disease
Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial
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
- NCT00705939
- Testing
- Taliglucerase alfa
- Where
- 11 sites in United States, Australia and 6 more
- Volunteers
- 45 people
- Sponsor
- Pfizer
Gaucher Disease
Home Therapy With VPRIV in Gaucher's Disease
The purpose of this study is to proof increasing patient satisfaction and preservation of quality of life in patients with Gaucher's Disease receiving their enzyme replacement therapy with VPRIV (Velaglucerase alfa)at their home…
- Trial name
- NCT01356537
- Where
- 11 sites in Austria, Germany
- Volunteers
- 34 people
- Sponsor
- Shire
Gaucher Disease
Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)
This is a three-phase study comprising both retrospective and prospective components, as follows: Phase I: Deployment of Rare Disease Algorithm: A diagnostic screening algorithm was developed using advanced analytical methods to…
- Trial name
- NCT05908656
- Testing
- Investigational procedure
- Where
- 3 sites in United States
- Volunteers
- 13 people
- Sponsor
- Sanofi
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
Metabolic Disease, Fabry Disease
Getting Global Rare Disease Insights Through Technology Study
This project is a randomized controlled trial to use a mobile health journal, called Zamplo (formerly known as MyHealthJournal or ZoeInsights), to record patient reported outcomes (PROM) in patients with metabolic disorders.
- Conditions
- Metabolic Disease, Fabry Disease, Gaucher Disease, Pompe Disease
- Trial name
- GRIT (NCT04758130)
- Testing
- Zamplo Digital Health Platform
- Where
- Canada
- Volunteers
- 150 people
- Sponsor
- M.A.G.I.C. Clinic LTD
Gaucher Disease, Type 1
Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00553631
- Testing
- velaglucerase alfa, imiglucerase
- Where
- 11 sites in United States, Argentina and 7 more
- Volunteers
- 34 people
- Sponsor
- Shire
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
Gaucher Disease, Type 1
Long Term Follow-up Study of Type-1 Gaucher Subjects Post FLT201 Dose (GALILEO-2)
This is a multicenter, long-term, follow-up trial of participants with Gaucher disease type 1 who received FLT201 treatment in a preceding clinical trial. Participants will be followed for 5 years post-treatment.
- Trial name
- NCT06545136
- Testing
- FLT201
- Where
- 4 sites in United States, Brazil and 2 more
- Volunteers
- 75 people
- Sponsor
- Spur Therapeutics
Type 1 Gaucher Disease
A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101
This is an open-label study designed to assess if AT2101 is safe in patients with Gaucher disease and how AT2101 gets through the body after it is taken by mouth.
- Trial name
- NCT00875160
- Testing
- AT2101
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 1 people
- Sponsor
- Amicus Therapeutics
Gaucher Disease
Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT)
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00391625
- Testing
- GA-GCB
- Where
- 3 sites in Israel, Romania and 1 more
- Volunteers
- 10 people
- Sponsor
- Shire
Gaucher Disease, Type 1, Gaucher Disease, Type 3
Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3
Multicenter, doubleblinded, randomized placebo-controlled study of arimoclomol in patients with Gaucher Disease Type 1 or 3
- Trial name
- NCT03746587
- Testing
- Arimoclomol
- Where
- 8 sites in India
- Volunteers
- 39 people
- Sponsor
- ZevraDenmark
Gaucher Disease Type 1
A Clinical Study Evaluating LY-M001 Injection in the Treatment of Adult Patients With Type I Gaucher Disease
Gaucher disease (GD) is caused by mutations in the GBA1 gene, which leads to a lack or reduction of GCase activity. The consequences of this deficiency are generally attributed to the accumulation of the GCase substrate…
- Trial name
- GD (NCT06818838)
- Testing
- LY-M001
- Where
- 3 sites in China
- Volunteers
- 12 people
- Sponsor
- Lingyi Biotech Co., Ltd.
Gaucher's Disease Type I, Gaucher's Disease Type III
Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3
Primary Objective: Evaluated the safety and pharmacokinetics of eliglustat in pediatric participants (≥2 to <18 years old). Secondary Objective: Evaluated the efficacy of eliglustat and quality of life in pediatric participants…
- Trial name
- ELIKIDS (NCT03485677)
- Testing
- Eliglustat GZ385660, Imiglucerase GZ437843
- Where
- 21 sites in Argentina, Canada and 8 more
- Volunteers
- 57 people
- Sponsor
- Sanofi
Gaucher Disease
A Phase I Study to Compare Abcertin and EU-sourced Cerezyme® in Healthy Volunteers
Primary Objective: To compare the pharmacokinetics of Abcertin to the reference product, EU-sourced Cerezyme, after single intravenous administration of 60 IU/kg.
- Trial name
- NCT04787887
- Testing
- Abcertin, EU-sourced Cerezyme
- Where
- Australia
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- ISU Abxis Co., Ltd.
Gaucher Disease, Splenomegaly
A National Study in Patients With Unexplained Splenomegaly
Primary Objective: To estimate the prevalence of Gaucher disease and of other etiologies, in patients of 15 years old or more presenting with unexplained splenomegaly after exclusion of first intention-diagnoses (e.g.
- Trial name
- SMS (NCT04430881)
- Where
- France
- Volunteers
- 506 people
- Sponsor
- Sanofi
Gaucher Disease, Type 1 Gaucher Disease
A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease
This study evaluated the safety and tolerability of afegostat tartrate in participants with type 1 Gaucher disease who were not receiving enzyme replacement therapy (ERT) or substrate reduction therapy (SRT).
- Conditions
- Gaucher Disease, Type 1 Gaucher Disease, Gaucher Disease, Type 1
- Trial name
- NCT00446550
- Testing
- afegostat tartrate
- Where
- 11 sites in United States, Israel and 2 more
- Volunteers
- 19 people
- Sponsor
- Amicus Therapeutics