A Gene Therapy Study in Patients With Gaucher Disease Type 1

NCT05324943 | Completed Phase 1 DMC FDA Drug FDA Device

• 1 other identifier: FLT201-01
• Study Type: interventional
• Target: 6
• Locations: 6 countries
• Sites: 10

Brief Summary

This study is a first-in-human, open-label, safety, tolerability, and efficacy study in adult patients with Gaucher disease Type 1. The aims are to investigate the safety/tolerability and efficacy of FLT201, and to investigate the relationship of FLT201 dose to augmentation of residual glucocerebrosidase (GCase) expression (activity and concentration), and its potential to improve the clinical phenotype by reduction and prevention of cellular accumulation of GCase substrate.

Conditions

Gaucher Disease, Type 1

Outcome Measures

Primary Outcomes (1)

• Incidence of treatment-emergent adverse events

  Treatment-emergent adverse events (including dose-limiting toxicities), with AEs graded as mild/moderate/severe.

  Day 1 (dosing) through the final follow-up visit at Week 38

Study Arms (1)

FLT201

EXPERIMENTAL

FLT201 is an advanced therapy investigational medicinal product (ATIMP) administered as a single intravenous infusion.

Genetic: FLT201

Interventions

FLT201 GENETIC

FLT201 is a replication-incompetent single-stranded (ss) recombinant adeno-associated virus (AAV) vector. The vector is composed of a ss DNA genome packaged in an AAV-derived protein capsid.

FLT201

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Adult ≥ 18 years of age.
• Diagnosis of Gaucher disease Type 1 with deficient GCase enzyme activity ≤30% of normal in leukocytes at diagnosis.
• All female patients of childbearing potential must not be lactating and must have a negative serum pregnancy test at screening and confirmed negative by urine testing prior to dosing on Day 1. Female patients of childbearing potential and male patients must be willing to follow protocol guidelines for barrier protection/contraception.
• Able to give full informed consent for the trial.
• Treatment status at screening (screening period is 16 weeks):
• Treated with either enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) and started this treatment at least 2 years prior to dosing with no change in regimen for the prior 3 months. ERT dose ≥15 U/kg and ≤60 U/kg every other week.

You may not qualify if:

• Diagnosed or suspected Type 2 or Type 3 Gaucher disease (including any patient with eye movement abnormality on clinical examination).
• Positive for neutralising antibodies to AAVS3 at screening.
• Evidence of significant and persistent liver dysfunction at Screening defined as \>1.5 x upper limit of normal (ULN) in alanine aminotransferase (ALT), aspartate aminotransferase (AST) or total bilirubin.
• Evidence of any of the following at screening:
• Hb \<8 g/dL.
• Platelets \<45,000/mm3.
• Pulmonary hypertension.
• New osteonecrosis within 12 months of screening.
• Fragility fracture or bone crisis within 12 months of screening.
• Hepatitis B surface antigen (HBsAg) positive at screening.
• Hepatitis C antibody (Hep C Ab) positive and hepatitis C RNA polymerase chain reaction (PCR) (as follow-up test if Hep C Ab-positive)-positive at screening.
• Cytomegalovirus (CMV) immunoglobulin G (IgG) and CMV DNA PCR-positive at screening.
• Human immunodeficiency virus (HIV)-1 or -2 antibody positive at screening.
• Patient has received live attenuated vaccination within 12 weeks prior to screening or intends to receive such vaccination during the study.
• History of clinically-advanced liver disease e.g. cirrhosis, portal hypertension.

Sponsors & Collaborators

• Spur Therapeutics: lead

Study Sites (10)

Kaiser Permanente

Los Angeles, California, 90027, United States

Location

Lysosomal Rare Disorders Research and Treatment Center

Fairfax, Virginia, 22030-6066, United States

Location

Hospital de Clinicas de Porto Alegre (HCPA)

Porto Alegre, Brazil

Location

SphinCS

Höchheim, Germany

Location

Shaare Zedek Medical Center

Jerusalem, Israel

Location

Rabin Medical Center - PPDS

Petah Tikva, Israel

Location

Tel Aviv Sourasky Medical Center

Tel Aviv, Israel

Location

Hospital Quironsalud Zaragoza

Zaragoza, Spain

Location

Royal Free Hospital

London, United Kingdom

Location

Salford Royal Hospital

Salford, United Kingdom

Location

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 28, 2022
• First Posted: April 13, 2022
• Study Start: April 15, 2022
• Primary Completion: December 4, 2024
• Study Completion: December 4, 2024
• Last Updated: November 4, 2025

Record last verified: 2025-10

Locations

GB (2); US (2); ES (1); BR (1); DE (1); IL (3)