NCT03580083

RGX-111 Gene Therapy in Patients With MPS I

A Phase I/II Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of Intracisternal RGX-111 Gene Therapy in Participants With Mucopolysaccharidosis Type I

• Status: Suspended
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 21 (estimated)
• Sponsor: REGENXBIO Inc. · Industry
• Sex: All
• Age: 4 Months
• Healthy volunteers: Not accepted

Summary

RGX-111 is a gene therapy which is intended to deliver a functional copy of the α-L-iduronidase (IDUA) gene to the central nervous system. This is a safety and dose ranging study to determine whether RGX-111 is safe and tolerated by patients with MPS I.

Detailed description

Mucopolysaccharidosis type I (MPS I) is a rare recessive genetic disease caused by a deficiency of α-L-iduronidase (IDUA) leading to an accumulation of glycosaminoglycans (GAGs) in tissues of patients with MPS I. While currently available therapies, enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), provide clinical benefit over untreated disease progression, they still possess significant limitations. ERT does not cross the blood-brain barrier and, therefore, does not treat the central nervous system (CNS) effects of the disease, and HSCT has clinically relevant morbidity and mortality and is not able to completely treat the CNS effects. RGX-111 is designed to deliver a functioning gene enabling the production of IDUA in the brain. This is a Phase I/II , first-in-human, multicenter, open-label, single-arm dose escalation study of RGX 111. Up to 21 subjects with MPS I will be treated in 2 dose cohorts and will receive a single dose of RGX-111 administered using an investigational device by IC or IVR injection. Safety will be the primary focus for the initial 24 weeks after treatment (primary study period). Following completion of the primary study period, subjects will continue to be assessed (safety and efficacy) for up to a total of 104 weeks following treatment with RGX-111. At the end of the study, all subjects will be invited to participate in a long-term observational follow-up study.

Conditions

• Mucopolysaccharidosis Type I (MPS I)
• Hurler Syndrome
• Hurler-Scheie Syndrome

Interventions

Type	Name	Description
GENETIC	RGX-111	Recombinant adeno-associated virus serotype 9 capsid containing α-L-iduronidase expression cassette

Timeline

• Start date: 2019-04-03
• Primary completion: 2027-07-07
• Completion: 2029-03-06
• First posted: 2018-07-09
• Last updated: 2026-03-12

Locations

2 sites across 2 countries: United States, Brazil

Regulatory

• FDA-regulated drug study