Mucopolysaccharidosis IPhase 1/2NCT04227600

A Study of JR-171 in Patients With Mucopolysaccharidosis I

A Phase 1/2 study testing JR-171 (lepunafusp alfa) in people with Mucopolysaccharidosis I, run by JCR Pharmaceuticals Co., Ltd. at 6 sites in 3 countries.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record

Search all trials

Trial 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). Read more about this study

Who is it for?: Ages 0 years and older
Conditions the study is for: Mucopolysaccharidosis I
What is being tested?: JR-171 (lepunafusp alfa)
Type of treatment: Injection or infusion
Could I receive a placebo?: No, everyone receives an active treatment
How many people: 18 participants
Where: 6 sitesin 3 countries
Study dates: 1 Sep 2020to 2 Aug 2022
Phase: Phase 1/2
Are there results?: Yes, posted in the registrySummary in the doctors' view

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 0 years and older
All sexes
No healthy volunteers
Child, Adult, Older adult

Who may be able to join

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

Show all 9Show fewer

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

Who cannot join

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.

Trial locations and contacts

6 sites in 3 countries.

Country

City, postcode or hospital

6 sites in 3 countries

Japan3 sites

Fukuoka Children's Hospital
Fukuoka
Kochi Medical School Hospital
Nankoku
Osaka Metropolitan University Hospital
Osaka

Other trials in Japan

Brazil2 sites

Hospital de Clínicas de Porto Alegre
Porto Alegre
Instituto de Genética e Erros Inatos do Metabolismo - IGEIM
São Paulo

Other trials in Brazil

United States1 site

UCSF Benioff Children's Hospital Oakland
Oakland, California, 94609

Other trials in United States

About this study

Official title: Phase I/II Study of JR-171 ㏌ Patients With Mucopolysaccharidosis Type I

Read the detailed description

In the JR-171-102 study, subjects will receive either 2.0 or 4.0 mg/kg/week of JR-171 intravenously at the same dosages received at Week 12 of the JR-171-101 study.

Conditions: Mucopolysaccharidosis I
Being tested: JR-171 (lepunafusp alfa)
Medical subject headings: Mucopolysaccharidosis I

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

JR-171 (lepunafusp alfa)Drug
IV infusion

Study groups in NCT04227600
Study group	Role	What they receive
Part1 JR-171	Experimental	Drug: JR-171 IV infusion, dose escalation Receives: Drug: JR-171 (lepunafusp alfa)
Part2 JR-171	Experimental	Drug: JR-171 IV infusion, dose escalation, low dose, high dose Receives: Drug: JR-171 (lepunafusp alfa)

What is being measured

The primary outcome is the main question the study is designed to answer.

Number of Participants With Adverse Events
Measured: 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)
Measured: Week 1 to Week 4
Pharmacokinetics of Each Dose in Part 1 (Cmax)
Measured: Week 1 to Week 4
Pharmacokinetics of Each Dose in Part 2 (AUC0-t)
Measured: Week 1 to Week 12
Pharmacokinetics of Each Dose in Part 2 (Cmax)
Measured: Week 1 to Week 12
Heparan Sulfate Concentrations in Cerebrospinal Fluid in Part 1
Measured: Baseline to Week 4
Dermatan Sulfate Concentrations in Cerebrospinal Fluid in Part 1
Measured: Baseline to Week 4
Heparan Sulfate Concentrations in Cerebrospinal Fluid in Part 2
Measured: Baseline to Week 12
Dermatan Sulfate Concentrations in Cerebrospinal Fluid in Part 2
Measured: Baseline to Week 12
Heparan Sulfate Concentrations in Serum in Part 1
Measured: Baseline to Week 5
Dermatan Sulfate Concentrations in Serum in Part 1
Measured: Baseline to Week 5
Heparan Sulfate Concentrations in Serum in Part 2
Measured: Baseline to Week 13
Dermatan Sulfate Concentrations in Serum in Part 2
Measured: Baseline to Week 13
Heparan Sulfate Concentrations in Urine in Part 1
Measured: Baseline to Week 5
Dermatan Sulfate Concentrations in Urine in Part 1
Measured: Baseline to Week 5
Heparan Sulfate Concentrations in Urine in Part 2
Measured: Baseline to Week 13
Dermatan Sulfate Concentrations in Urine in Part 2
Measured: Baseline to Week 13
Liver Volumes (Body Weight Adjusted) in Part 1
Measured: Baseline to Week 5
Spleen Volumes (Body Weight Adjusted) in Part 1
Measured: Baseline to Week 5
Liver Volumes (Body Weight Adjusted) in Part 2
Measured: Baseline to Week 13
Spleen Volumes (Body Weight Adjusted) in Part 2
Measured: Baseline to Week 13

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

1 Sep 20202 Aug 2022

First posted13 Jan 2020
Study start1 Sep 2020
Primary completion2 Aug 2022
Study completion2 Aug 2022

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
Publications (1)Papers the sponsor has linked to this study.
Other trials for Mucopolysaccharidosis IStudies of the same condition, open and under way.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Interventional
Phase: Phase 1/2
Primary purpose: Treatment
Allocation: Non-randomised
Intervention model: Parallel groups
Masking: None (open label)
Enrolment: 18 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT04227600
Sponsor's protocol ID: JR-171-101
Status last verified: Mar 2025
First submitted: 27 Dec 2019
Last updated: 19 Mar 2025
Results posted: Yes, on ClinicalTrials.gov
FDA-regulated drug: Yes
FDA-regulated device: No
Individual data sharing: No

Publications

Harmatz P, Giugliani R, Martins AM, Hamazaki T, Kubo T, Kira R, Minami K, Ikeda T, Moriuchi H, Kawashima S, Takasao N, So S, Sonoda H, Hirato T, Tanizawa K, Schmidt M, Sato Y. alpha-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial. Mol Ther. 2024 Mar 6;32(3):609-618. doi: 10.1016/j.ymthe.2024.01.009. Epub 2024 Jan 10.
PubMed 38204164

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

Active, not recruitingObservational study
Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH.
Hematopoietic Cell Transplantation, Mucopolysaccharidosis Type I
Active, not recruitingPhase 2
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Mucopolysaccharidosis Disorders, Hurler Syndrome
RecruitingObservational study
Cardiac Structure and Function in MPS
MPS I, MPS IV A
Active, not recruitingPhase 1/2
An Open-label Phase I/II Study of JR-446 in Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis III-B
RecruitingPhase 2/3
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
MPS IIIA, Sanfilippo Syndrome

All Mucopolysaccharidosis I trials

Study at a glance

From the registry record, last updated by the sponsor on 19 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Phase I/II Study of JR-171 ㏌ Patients With Mucopolysaccharidosis Type I
ClinicalTrials.gov ID: NCT04227600
Acronym / sponsor ID: JR-171-101
Conditions: Mucopolysaccharidosis I
Phase: Phase 1/2
Study type: Interventional
Recruitment status: Completed
Enrolment: 18 participants (actual)
Lead sponsor: JCR Pharmaceuticals Co., Ltd.Industry (pharma, biotech, devices)
Study start: 1 Sep 2020 (actual)
Primary completion: 2 Aug 2022 (actual)
Study completion: 2 Aug 2022 (actual)
First posted: 13 Jan 2020 (actual)
Results: Posted 19 Mar 2025

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Detailed description

In the JR-171-102 study, subjects will receive either 2.0 or 4.0 mg/kg/week of JR-171 intravenously at the same dosages received at Week 12 of the JR-171-101 study.

Study design

Primary purpose: Treatment
Allocation: Non-randomised
Intervention model: Parallel groups
Masking: None (open label)
Number of arms: 2

Arm	Type	Receives
Part1 JR-171	Experimental	Drug: JR-171 (lepunafusp alfa)Drug: JR-171 IV infusion, dose escalation
Part2 JR-171	Experimental	Drug: JR-171 (lepunafusp alfa)Drug: JR-171 IV infusion, dose escalation, low dose, high dose

Who may qualify

Ages: 0 years and older
Sex: All
Healthy volunteers: Not accepted
Age groups: Child, Adult, Older adult

Key inclusion criteria (9 listed)

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

Key exclusion criteria (6 listed)

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

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Interventions

Intervention	Type	Arms
JR-171 (lepunafusp alfa)IV infusion	Drug	Part1 JR-171, Part2 JR-171

Primary outcome

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).

20 secondary outcomes

Pharmacokinetics of Each Dose in Part 1 (AUC0-t)
Time frame: Week 1 to Week 4
Pharmacokinetics of Each Dose in Part 1 (Cmax)
Time frame: Week 1 to Week 4
Pharmacokinetics of Each Dose in Part 2 (AUC0-t)
Time frame: Week 1 to Week 12
Pharmacokinetics of Each Dose in Part 2 (Cmax)
Time frame: Week 1 to Week 12
Heparan Sulfate Concentrations in Cerebrospinal Fluid in Part 1
Time frame: Baseline to Week 4
Dermatan Sulfate Concentrations in Cerebrospinal Fluid in Part 1
Time frame: Baseline to Week 4
Heparan Sulfate Concentrations in Cerebrospinal Fluid in Part 2
Time frame: Baseline to Week 12
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
Dermatan Sulfate Concentrations in Serum in Part 1
Time frame: Baseline to Week 5
Heparan Sulfate Concentrations in Serum in Part 2
Time frame: Baseline to Week 13
Dermatan Sulfate Concentrations in Serum in Part 2
Time frame: Baseline to Week 13
Heparan Sulfate Concentrations in Urine in Part 1
Time frame: Baseline to Week 5
Dermatan Sulfate Concentrations in Urine in Part 1
Time frame: Baseline to Week 5
Heparan Sulfate Concentrations in Urine in Part 2
Time frame: Baseline to Week 13
Dermatan Sulfate Concentrations in Urine in Part 2
Time frame: Baseline to Week 13
Liver Volumes (Body Weight Adjusted) in Part 1
Time frame: Baseline to Week 5
Spleen Volumes (Body Weight Adjusted) 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

Results and safety

Results posted to the registry on 19 Mar 2025, as reported by the sponsor. Figures are copied from the record, not re-analysed. Full results on ClinicalTrials.gov.

Participant flow

Group	Started	Completed
Part1, Dose-escalation	4	4
Part 2, Dose-escalation	2	2
Part2, 2.0 mg	6	6
Part 2, 4.0 mg	6	6

Primary outcome: 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).. Number. Unit: participants

Measure	Part1, Dose-escalation n = 4	Part2, 2.0 mg n = 6	Part 2, 4.0 mg n = 8
Adverse events	3	6	7
Serious adverse events	0	1	1
Adverse events of special interests	1	3	3
Adverse events leading to death	0	1	0
IARs (Adverse events)	1	1	3
Adverse drug reactions	1	1	3
Serious adverse drug reactions	0	0	0
Adverse drug reactions of special interests	1	1	3

Population analysed: Since participants with dose-escalation treatment continued treatment with 4.0 mg/kg/week after the first three weeks, they were analyzed as 4.0 mg/kg/week group participants

20 secondary outcomes are reported in the full results.

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). Events occurring within 28 days after the time of observation at Week 5 in Part 1/Week 13 in Part 2 or discontinuation that are considered related to JR-171 will also be collected.. Other adverse events reported at 0% frequency or more

Group	Serious adverse events	Other adverse events	Deaths
Part1, Dose-escalation	0 of 4 (0%)	3 of 4 (75%)	0 of 4
Part2, 2.0 mg	1 of 6 (16.7%)	6 of 6 (100%)	1 of 6
Part 2, 4.0 mg	1 of 8 (12.5%)	7 of 8 (87.5%)	0 of 8

Loading the posted results from ClinicalTrials.gov…

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 19 Mar 2025.
Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Derived from this study: PubMed 38204164Harmatz P, Giugliani R, Martins AM, Hamazaki T, Kubo T, Kira R, Minami K, Ikeda T, Moriuchi H, Kawashima S, Takasao N, So S, Sonoda H, Hirato T, Tanizawa K, Schmidt M, Sato Y. alpha-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial. Mol Ther. 2024 Mar 6;32(3):609-618. doi: 10.1016/j.ymthe.2024.01.009. Epub 2024 Jan 10.
Individual participant dataSharing planned: No

Related trials for Mucopolysaccharidosis I

Active, not recruitingObservational study
Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH.
Hematopoietic Cell Transplantation, Mucopolysaccharidosis Type I
Active, not recruitingPhase 2
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Mucopolysaccharidosis Disorders, Hurler Syndrome
RecruitingObservational study
Cardiac Structure and Function in MPS
MPS I, MPS IV A
Active, not recruitingPhase 1/2
An Open-label Phase I/II Study of JR-446 in Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis III-B
RecruitingPhase 2/3
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
MPS IIIA, Sanfilippo Syndrome

Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

The record lists no contact. Use the official record to reach the sponsor.

6 sites in 3 countries: see every site and its status.

Questions about this trial

What is this clinical trial studying?

A Phase 1/2 study testing JR-171 (lepunafusp alfa) in people with Mucopolysaccharidosis I, run by JCR Pharmaceuticals Co., Ltd. at 6 sites in 3 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 9 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 19 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 6 sites in Japan, Brazil, United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this combined phase mean?

Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

Yes. Results are posted in the registry (first posted 19 Mar 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

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).). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04227600, which also lists 1 linked publication.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Mar 2025.