A Study of JR-171 in Patients With Mucopolysaccharidosis I

• Register: ClinicalTrials.gov
• Last refreshed on: 24 March 2025
• Main ID: NCT04227600
• Date of registration: 27/12/2019
• Prospective Registration: Yes
• Primary sponsor: JCR Pharmaceuticals Co., Ltd.
• Public title: A Study of JR-171 in Patients With Mucopolysaccharidosis I
• Scientific title: Phase I/II Study of JR-171 ? Patients With Mucopolysaccharidosis Type I
• Date of first enrolment: September 1, 2020
• Target sample size: 18
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/ct2/show/NCT04227600
• Study type: Interventional
• Study design: Allocation: Non-Randomized. Intervention model: Parallel Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 1/Phase 2

Countries of recruitment

Brazil, Japan, United States

Key inclusion & exclusion criteria

Inclusion Criteria:

- 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

Exclusion Criteria:

- 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.


Age minimum: 0 Years
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Mucopolysaccharidosis I

Intervention(s)

Drug: JR-171 (lepunafusp alfa)

Primary Outcome(s)

Number of Participants With Adverse Events [Time Frame: Time of the first dose of JR-171 until the last visit (Week 5 for Part 1/ Week 13 for Part 2).]

Secondary Outcome(s)

Liver Volumes (Body Weight Adjusted) in Part 1 [Time Frame: Baseline to Week 5]

Heparan Sulfate Concentrations in Cerebrospinal Fluid in Part 2 [Time Frame: Baseline to Week 12]

Heparan Sulfate Concentrations in Serum in Part 2 [Time Frame: Baseline to Week 13]

Dermatan Sulfate Concentrations in Cerebrospinal Fluid in Part 1 [Time Frame: Baseline to Week 4]

Dermatan Sulfate Concentrations in Serum in Part 1 [Time Frame: Baseline to Week 5]

Liver Volumes (Body Weight Adjusted) in Part 2 [Time Frame: Baseline to Week 13]

Spleen Volumes (Body Weight Adjusted) in Part 2 [Time Frame: Baseline to Week 13]

Heparan Sulfate Concentrations in Urine in Part 1 [Time Frame: Baseline to Week 5]

Pharmacokinetics of Each Dose in Part 1 (Cmax) [Time Frame: Week 1 to Week 4]

Dermatan Sulfate Concentrations in Cerebrospinal Fluid in Part 2 [Time Frame: Baseline to Week 12]

Heparan Sulfate Concentrations in Serum in Part 1 [Time Frame: Baseline to Week 5]

Heparan Sulfate Concentrations in Urine in Part 2 [Time Frame: Baseline to Week 13]

Pharmacokinetics of Each Dose in Part 2 (Cmax) [Time Frame: Week 1 to Week 12]

Dermatan Sulfate Concentrations in Urine in Part 2 [Time Frame: Baseline to Week 13]

Pharmacokinetics of Each Dose in Part 2 (AUC0-t) [Time Frame: Week 1 to Week 12]

Spleen Volumes (Body Weight Adjusted) in Part 1 [Time Frame: Baseline to Week 5]

Heparan Sulfate Concentrations in Cerebrospinal Fluid in Part 1 [Time Frame: Baseline to Week 4]

Dermatan Sulfate Concentrations in Serum in Part 2 [Time Frame: Baseline to Week 13]

Dermatan Sulfate Concentrations in Urine in Part 1 [Time Frame: Baseline to Week 5]

Pharmacokinetics of Each Dose in Part 1 (AUC0-t) [Time Frame: Week 1 to Week 4]

Secondary ID(s)

JR-171-101

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Results

• Results available: Yes
• Date Posted: 19/03/2025
• URL: https://clinicaltrials.gov/ct2/show/results/NCT04227600