Clinical trials: GBA Gene Mutation
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
Parkinson Disease
Non Motor Symptoms in Glucocerebrosidase-related Parkinson's Disease
The goal of this observational study is to describe non motor symptoms in a prospective study of patients with Parkinson's disease associated to glucocerebrosidase (GBA-PD) mutations.
- Trial name
- PROGENS-PD (NCT06451419)
- Testing
- Tests on non motor symptoms
- Where
- 2 sites in Spain
- Volunteers
- 40 people
- Sponsor
- Juan Pablo Romero. MD, PhD
Gaucher Disease, Type 2
Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)
J3Z-MC-OJAB is an open-label, Phase 1/2, multicenter study to evaluate the safety and efficacy of single-dose LY3884961 (formerly PR001) in infants diagnosed with Type 2 Gaucher disease (GD2).
- Trial name
- NCT04411654
- Testing
- LY3884961, Methylprednisolone, Sirolimus
- Where
- 6 sites in United States, United Kingdom
- Volunteers
- 7 people
- Sponsor
- Prevail Therapeutics
Parkinson's Disease
Study Assessing Tolerability and Safety and Exploring the Immunogenicity and Therapeutic Activity of AFFITOPE® PD01A in PD-GBA Patients
This is a randomized, placebo-controlled, parallel group, patient-blind, single-center phase I clinical trial of repeated once every 4 weeks administration by subcutaneous injection of AFFITOPE® PD01A, adsorbed to aluminium oxide…
- Trial name
- NCT02758730
- Testing
- AFFITOPE® PD01A + Adjuvant, Adjuvant without active component
- Where
- Germany
- Sponsor
- Affiris AG
GBA1 Parkinson Disease
A Clinical Trial of CAP-003 Gene Therapy in Adult Patients With GBA1 Associated Parkinson's Disease
The goal of this clinical trial is to learn about the safety of CAP-003 gene therapy in adults with GBA1 associated Parkinson's Disease.
- Trial name
- NCT07011771
- Testing
- gene therapy
- Where
- 5 sites in United States
- Sponsor
- Capsida Biotherapeutics, Inc.
Parkinson Disease, Gaucher Disease
Drug Discovery for Parkinson's With Mutations in the GBA Gene
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Parkinson's disease research and drug development by using cells from the body (such as skin or blood cells) to make stem…
- Conditions
- Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
- Trial name
- NCT05536388
- Testing
- Biological Sample Collection
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- New York Stem Cell Foundation Research Institute
Idiopathic Parkinson's Disease (PD)
Study on the Incidence of Malignant Neoplasms in Patients With Parkinson's Disease and Heterozygous Mutation of the GBA Gene
This multicenter retrospective observational study investigates the incidence of malignant neoplasms in Parkinson's disease (PD) patients carrying heterozygous pathogenic variants in the GBA1 gene.
- Trial name
- ONCOGBA (NCT06814431)
- Where
- 4 sites in Italy
- Volunteers
- 3,000 people
- Sponsor
- Azienda USL Reggio Emilia - IRCCS
Parkinson Disease, GBA Gene Mutation
The GBA Multimodal Study in Parkinson's Disease
This study plans to analyze the molecular and clinical mechanisms of the relationship between the GBA mutations and Parkinson's disease.
- Conditions
- Parkinson Disease, GBA Gene Mutation, Gaucher Disease
- Trial name
- NCT04101968
- Testing
- PET scan, neuroQWERTY
- Where
- 3 sites in United States, Canada
- Volunteers
- 30 people
- Sponsor
- Pacific Parkinson's Research Centre
Parkinson Disease
Effectiveness of Cognitive Stimulation Treatment in Patients With Parkinson's Disease
The goal of this observational study is to evaluate the relationship between GBA mutation and cognitive stimulation treatment response in patients with Parkinson's disease.
- Trial name
- NCT06323278
- Testing
- Cognitive training
- Where
- Italy
- Volunteers
- 68 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Parkinson Disease, LRRK2
LRRK2, GBA and Other Genetic Biomarkers in Eastern European (Ashkenazi) Jews With and Without Parkinson's Disease
Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.
- Conditions
- Parkinson Disease, LRRK2, GBA Gene Mutation
- Trial name
- BioPD (NCT04668898)
- Where
- United States
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- Icahn School of Medicine at Mount Sinai
Parkinson's Disease
Prevent Cognitive Decline in GBA-associated Parkinson's Disease
This is a proof-of-concept trial to investigate the efficacy of prasinezumab to slow or prevent cognitive decline in people with Parkinson's disease carrying a severe mutation in the GBA (glucocerebrosidase) gene.
- Trial name
- PreCoDe (NCT07055087)
- Testing
- Prasinezumab, Sodium Chloride
- Where
- 11 sites in France, Germany and 5 more
- Volunteers
- 120 people
- Sponsor
- University Hospital Tuebingen
Parkinson Disease
High Order Spectral Analysis of Local Field Potential Data on a Subgroup of Parkinson's Disease Patients Who Are Carriers of Mutations in the Glucocerebrosidase (GBA) Gene Undergoing DBS Electrode Placement
The aim is to study a specific group of PD patients, carriers of mutations in the glucocerebrosidase (GBA) gene, which is the most common genetic risk factor for PD and is a harbinger of aggressive cognitive and motor decline.
- Trial name
- NCT04268030
- Testing
- collection of LFPs
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Rush University Medical Center
Parkinson Disease, GBA Gene Mutation
Evaluation of the Frequency and Severity of Sleep Abnormalities in Patients With Parkinson's Disease
Sleep disturbances are one of the most common non-motor symptoms in PD, with an estimated prevalence as high as 40-90%. Sleep disturbances (particularly sleep duration, sleep fragmentation, Rapid Eye Movement (REM) sleep behavior…
- Conditions
- Parkinson Disease, GBA Gene Mutation, Leucine-rich Repeat Kinase 2 (LRRK2) Gene Mutation
- Trial name
- NCT04387812
- Testing
- Xtrodes home PSG system
- Where
- Israel
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Parkinson's Disease
A Global Study to Assess the Drug Dynamics, Efficacy, and Safety of Venglustat (GZ/SAR402671) in Parkinson's Disease Patients Carrying a Glucocerebrosidase (GBA) Gene Mutation
Primary Objectives: Part 1: To determine the safety and tolerability of 4, 8, and 15 milligrams of GZ/SAR402671 (venglustat) administered orally for 4 weeks, as compared to placebo in participants with early-stage Parkinson's…
- Trial name
- MOVES-PD (NCT02906020)
- Testing
- venglustat GZ/SAR402671
- Where
- 52 sites in United States, Austria and 14 more
- Volunteers
- 273 people
- Sponsor
- Genzyme, a Sanofi Company
Parkinson Disease, GBA Gene Mutation
High-Dose Ambroxol in GBA1-Related Parkinson
Parkinson's disease (PD), affecting 10 million people globally, lacks a cure, and current therapies only manage symptoms. A link between Gaucher disease (GD) and PD, particularly in carriers of glucocerebrosidase (GBA1)…
- Trial name
- NCT06193421
- Testing
- Ambroxol Hydrochloride
- Where
- Israel
- Volunteers
- 40 people
- Sponsor
- Agyany Pharma LTD
Gaucher Disease, Parkinson Disease
World Data on Ambroxol for Patients With GD and GBA Related PD
Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was found to also act as a pharmacological chaperone (PC) for mutant glucocerebrosidase, albeit in a…
- Conditions
- Gaucher Disease, Parkinson Disease, GBA Gene Mutation
- Trial name
- NCT04388969
- Where
- 3 sites in Israel
- Volunteers
- 300 people
- Sponsor
- Shaare Zedek Medical Center
Parkinson Disease, Gaucher Disease
Biomarker Analysis for GBA Associated Parkinson's Disease
The primary aim of the study is to conclusively demonstrate the possibility of using the following molecules, α-Synuclein, LRRK2 and Parkin individually or in combination as biomarkers for Parkinson's disease (PD) progression in…
- Trial name
- NCT03811496
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Parkinson, Parkinson Disease
GRoningen Early-PD Ambroxol Treatment
The most common genetic risk factor for Parkinson's Disease is a heterozygous mutation of the GBA1 gene, encoding the lysosomal enzyme glucocerebrosidase (GCase).
- Trial name
- GREAT (NCT05830396)
- Testing
- Ambroxol Hydrochloride
- Where
- Netherlands
- Volunteers
- 80 people
- Sponsor
- University Medical Center Groningen
Parkinson, Parkinson Disease
Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers
Every year, approximately 9,000 Parkinson disease (PD) patients undergo deep brain stimulator (DBS) placement into the subthalamic nucleus (STN-DBS).
- Conditions
- Parkinson, Parkinson Disease, Genetic Predisposition, GBA Gene Mutation
- Trial name
- NCT03234478
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Rutgers, The State University of New Jersey
Parkinson Disease, GBA Gene Mutation
Ambroxol as a Disease-modifying Treatment in GBA-PD
The present multicenter, randomized, double-blind, placebo-controlled clinical trial will investigate whether the prolonged administration of high-dose oral Ambroxol over 52 weeks is safe, tolerable, able to change…
- Trial name
- AMBITIOUS (NCT05287503)
- Testing
- Ambroxol Hydrochloride
- Where
- 3 sites in Italy
- Volunteers
- 65 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta