A Study of JR-171 in Patients With Mucopolysaccharidosis I

NCT04227600 | Completed Phase 1 Results FDA Drug

• 1 other identifier: JR-171-101
• Study Type: interventional
• Target: 18
• Locations: 3 countries
• Sites: 6

Brief Summary

Phase I/II, open-label, multicenter, multinational (Japan, Brazil and US),designed to evaluate the safety, pharmacokinetics and explore the efficacy for the treatment of mucopolysaccharidosis type I (MPS I).

Conditions

Mucopolysaccharidosis I

Outcome Measures

Primary Outcomes (1)

• Number of Participants With Adverse Events

  Time of the first dose of JR-171 until the last visit (Week 5 for Part 1/ Week 13 for Part 2).

Secondary Outcomes (20)

• Pharmacokinetics of Each Dose in Part 1 (AUC0-t)

  Week 1 to Week 4

• Pharmacokinetics of Each Dose in Part 1 (Cmax)

  Week 1 to Week 4

• Pharmacokinetics of Each Dose in Part 2 (AUC0-t)

  Week 1 to Week 12

• Pharmacokinetics of Each Dose in Part 2 (Cmax)

  Week 1 to Week 12

• Heparan Sulfate Concentrations in Cerebrospinal Fluid in Part 1

  Baseline to Week 4

Study Arms (2)

Part1 JR-171

EXPERIMENTAL

Drug: JR-171 IV infusion, dose escalation

Drug: JR-171 (lepunafusp alfa)

Part2 JR-171

EXPERIMENTAL

Drug: JR-171 IV infusion, dose escalation, low dose, high dose

Drug: JR-171 (lepunafusp alfa)

Interventions

JR-171 (lepunafusp alfa) DRUG

IV infusion

Part1 JR-171; Part2 JR-171

Eligibility Criteria

• Age: 0 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• A patient aged 18 years or older in Part 1 or any age in Part 2, at the time of informed consent
• A patient from whom written informed consent can be obtained. If the patient is aged under 18 years (20 years in case of Japan) at the time of assent or willingness to participate in the study cannot be confirmed due to MPS I-related intellectual disability, informed permission from the patient's legally acceptable representative (e.g. his/her parents or guardians) need to be obtained instead of his/her consent. Even in this case, written informed consent or assent should be obtained from the patient, wherever possible
• A patient diagnosed with MPS I based on any one of the following criteria:
• Activity of IDUA enzyme below 10% of lower reference level in leucocytes or cultured skin fibroblasts, AND increased age-related urinary levels of GAGs (before enzyme replacement therapy)
• Activity of IDUA enzyme below 10% of lower reference level in leucocytes or cultured skin fibroblasts, AND presence of one pathogenic mutation in each of the alleles of the IDUA gene
• Increased age-related urinary levels of GAGs (before enzyme replacement therapy), AND presence of one pathogenic mutation in each of the alleles of the IDUA gene
• A patient diagnosed as having no or mild MPS I-related intellectual disability (able to report their own subjective symptoms) by the principal investigator or subinvestigator (Part 1 only)
• A patient who has received laronidase continuously for at least 12 weeks and has received laronidase on a stable dosage for 2 weeks immediately before the initial administration of JR-171, except for a laronidase naïve patient or a patient who has previously been treated by HSCT)
• Female patient or male patient whose co-partner is of child-bearing potential agrees to use a medically accepted, highly effective method of contraception, such as spermatocidal gel plus condom, an intrauterine device or oral contraceptives until one month after the final administration

You may not qualify if:

• A patient who received gene therapy treatment
• A patient who, in the opinion of the principal investigator or subinvestigator, cannot undergo lumbar puncture, including those who have a difficulty in taking a position for lumbar puncture due to joint contracture and those who are likely to develop dyspnea during lumbar puncture
• A patient who is pregnant or lactating
• A patient who has developed serious drug allergy or hypersensitivity to any drugs, in the opinion of the principal investigator or subinvestigator, is inappropriate for participation in the study
• A patient who has received another investigational product within 12 months before enrollment in the study
• A patient who, in the opinion of the principal investigator or subinvestigator, is ineligible to participate in the study out of consideration for the participant safety.

Sponsors & Collaborators

• JCR Pharmaceuticals Co., Ltd.: lead

Study Sites (6)

UCSF Benioff Children's Hospital Oakland

Oakland, California, 94609, United States

Location

Hospital de Clínicas de Porto Alegre

Porto Alegre, Brazil

Location

Instituto de Genética e Erros Inatos do Metabolismo - IGEIM

São Paulo, Brazil

Location

Fukuoka Children's Hospital

Fukuoka, Japan

Location

Kochi Medical School Hospital

Nankoku, Japan

Location

Osaka Metropolitan University Hospital

Osaka, Japan

Location

MeSH Terms

Conditions

Mucopolysaccharidosis I

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Results Point of Contact

• Title: Study Director
• Organization: JCR Pharmaceuticals

clinical_development@jp.jcrpharm.com

+81 797 32 8582

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: Yes

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 27, 2019
• First Posted: January 13, 2020
• Study Start: September 1, 2020
• Primary Completion: August 2, 2022
• Study Completion: August 2, 2022
• Last Updated: March 19, 2025
• Results First Posted: March 19, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1); BR (2); JP (3)