What is the mechanism of action of this treatment?

Hurler Syndrome (MPS I) is caused by a deficiency in the enzyme alpha-L-iduronidase, leading to the accumulation of glycosaminoglycans in various tissues. Enzyme replacement therapy (ERT) involves administering a recombinant form of the deficient enzyme to break down these accumulated substances, thereby reducing symptoms and preventing disease progression. Gene therapy aims to correct the underlying genetic defect by introducing a functional copy of the gene responsible for producing alpha-L-iduronidase, potentially providing a long-term solution. These treatments are crucial for Hurler Syndrome patients as they target the root cause of the disease, improving quality of life and reducing the risk of severe complications.

What side effects are associated with this type of intervention?

The most common treatment for Hurler Syndrome (MPS I) is enzyme replacement therapy (ERT) with laronidase. Known side effects of laronidase include infusion-related reactions such as fever, chills, rash, and respiratory issues. Some patients may also experience headaches, nausea, and abdominal pain. Gene therapy, another potential treatment, can have side effects such as immune responses to the viral vector used for gene delivery, which may cause inflammation or other immune-related issues. Both treatments require careful monitoring to manage and mitigate these side effects.

What prior FDA approvals exist?

Hurler Syndrome, also known as MPS I, has seen FDA approval for enzyme replacement therapies such as laronidase (Aldurazyme), which provides a recombinant form of the alpha-L-iduronidase enzyme that patients with MPS I lack. This treatment helps reduce the accumulation of glycosaminoglycans, thereby alleviating some symptoms of the disease. Gene therapy approaches are also being explored, aiming to correct the underlying genetic defect by introducing functional copies of the IDUA gene. These therapies target the root cause of the enzyme deficiency in MPS I, similar to the investigational treatments in the JR-171-101 trial.

What other types of research exist?

Promising alternatives to JR-171-101 for Hurler Syndrome patients include: 1) Laronidase (Aldurazyme), an FDA-approved enzyme replacement therapy that has been shown to improve pulmonary function and mobility. 2) Hematopoietic stem cell transplantation (HSCT), which can provide a long-term source of the missing enzyme. 3) Gene therapy approaches, such as those using adeno-associated virus (AAV) vectors to deliver functional copies of the IDUA gene, which are currently in clinical trials and have shown potential in preclinical studies.

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Enzyme Replacement Therapy

JR-171 for Hurler Syndrome

Phase 1 & 2

Waitlist Available

Research Sponsored by JCR Pharmaceuticals Co., Ltd.

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Must not have

A patient who is unable to perform the study procedures, except for 6-minute walk test, neurocognitive testing, BVMT-R, HVLT-R, and T.O.V.A.

Timeline

Screening 3 weeks

Treatment Varies

Follow Up weeks 13, 26, 52, 78, 104, 156

Awards & highlights

No Placebo-Only Group

Summary

This trial continues to test JR-171, an IV medication, in patients with MPS I. The goal is to find the best dose to help manage their symptoms by aiding in the breakdown of certain substances in their bodies.

Who is the study for?

This trial is for patients with Hurler Syndrome or Mucopolysaccharidosis (MPS I) who completed the JR-171-101 study. It's open to adults and minors with consent from a legal guardian. Participants must agree to use effective contraception post-treatment.

What is being tested?

The trial is testing JR-171 (lepunafusp alfa), an extension of a previous study, across multiple countries. It's in Phase I/II, meaning it's early in clinical testing but expanding to assess safety and effectiveness further.

What are the potential side effects?

While specific side effects are not listed here, typical concerns may include reactions at the injection site, potential allergic responses, and other drug-related adverse effects which will be monitored throughout the study.

Eligibility Criteria

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

Select...

I can't do most study tests but can walk for 6 minutes and do some brain tests.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ weeks 13, 26, 52, 78, 104, 156

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~weeks 13, 26, 52, 78, 104, 156

This trial's timeline: 3 weeks for screening, Varies for treatment, and weeks 13, 26, 52, 78, 104, 156 for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Incidence of abnormal laboratory test results

Incidence of abnormal vital signs

Number of participants with Adverse Events

Secondary study objectives

Change From Baseline in Echocardiography.

Changes from baseline in cognitive age equivalent score of neurocognitive testing

Changes from baseline in outcome of adaptive behavioral function

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

2Treatment groups

Experimental Treatment

Group I: Dose level 2Experimental Treatment1 Intervention

4.0 mg/kg/week

Group II: Dose level 1Experimental Treatment1 Intervention

2.0 mg/kg/week

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

JR-171 (lepunafusp alfa)

2020

Completed Phase 2

~20

0 / 1Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Hurler Syndrome (MPS I) is caused by a deficiency in the enzyme alpha-L-iduronidase, leading to the accumulation of glycosaminoglycans in various tissues. Enzyme replacement therapy (ERT) involves administering a recombinant form of the deficient enzyme to break down these accumulated substances, thereby reducing symptoms and preventing disease progression. Gene therapy aims to correct the underlying genetic defect by introducing a functional copy of the gene responsible for producing alpha-L-iduronidase, potentially providing a long-term solution. These treatments are crucial for Hurler Syndrome patients as they target the root cause of the disease, improving quality of life and reducing the risk of severe complications.