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Mucopolysaccharidosis II – Trials in Disease

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Ongoing Clinical Trials for Mucopolysaccharidosis II

There are currently 6 clinical trials underway for Mucopolysaccharidosis II, a rare genetic disorder that affects the body’s ability to break down certain complex sugars. These trials are testing new treatments and comparing them with existing therapies across multiple European countries. (Also known as: Hunter Syndrome, MPS II)

Clinical trial locations

Long-term Safety and Efficacy Study of JR-141 (Pabinafusp Alfa) for Male Patients with Hunter Syndrome (Mucopolysaccharidosis II)

This trial is examining the long-term safety and effectiveness of a treatment called JR-141 (pabinafusp alfa) for male patients with the condition. JR-141 is a specially designed protein medication given through intravenous infusion, meaning it is delivered directly into a vein.

Inclusion criteria: To join this study, participants must have completed a previous study called JR-141-GS31 and shown no safety concerns. Written consent must be provided by the patient or their legal guardian. Participants who can have children must agree to use effective birth control during the study. Those with hearing problems should use hearing aids during cognitive testing.

Exclusion criteria: Patients cannot participate if they have a different condition than Hunter Syndrome, are outside the specified age range, cannot follow study procedures, have medical conditions that might interfere with the study, are taking medications that could affect results, participated in another trial recently, are pregnant or breastfeeding, or have a history of allergic reactions to the study medication.

Study focus: The trial monitors how JR-141 affects symptoms affecting the central nervous system over an extended period. Researchers track various health indicators including liver and spleen size, shoulder movement, walking ability, heart and lung function, quality of life, and sleep patterns. The study continues until April 2029, with regular assessments throughout.

Investigational drug: JR-141 works by delivering a modified enzyme that can cross the blood-brain barrier, replacing the deficient enzyme in patients. It is classified as an enzyme replacement therapy specifically designed to address central nervous system symptoms.

Study on Long-Term Safety and Effects of DNL310 for Patients with Mucopolysaccharidosis Type II (MPS II)

This trial evaluates the long-term safety and effects of DNL310, a specially designed protein therapy given through intravenous infusion. The study follows patients who have already participated in earlier DNL310 studies.

Inclusion criteria: Participants must have completed at least 49 weeks in Study DNLI-E-0002 or specific durations in Study DNLI-E-0007 depending on their cohort. Both males and females can participate, and the study includes vulnerable populations who may need extra care.

Exclusion criteria: Patients cannot join if they have other medical conditions, are outside the specified age range, cannot follow study procedures, have health issues that might interfere with the study, are currently in another trial, are pregnant or breastfeeding, have allergic reactions to the medication, or have a history of substance abuse.

Study focus: The trial monitors safety and tolerability over a period of up to 5 years. Researchers track changes in glycosaminoglycans, which are complex sugars that build up in patients with this condition. The study also measures changes in cerebrospinal fluid substances, cognitive scores, walking distance, and organ sizes using MRI scans. The trial is expected to conclude in July 2027.

Investigational drug: DNL310 is an enzyme replacement therapy designed to cross the blood-brain barrier, potentially improving both central nervous system and peripheral symptoms. It works by delivering a modified enzyme to supplement or replace the missing enzyme in affected individuals.

Study on Long-Term Safety of Idursulfase-IT and Elaprase for Patients with Hunter Syndrome and Cognitive Impairment

This trial examines the long-term safety of combining two treatments: Idursulfase-IT (HGT-2310) and Elaprase. Idursulfase-IT is delivered directly into the spinal fluid through an implantable port, while Elaprase is given through intravenous infusion.

Inclusion criteria: Only male patients who have completed previous studies (HGT-HIT-046 or SHP609-302) and shown clinical benefit from idursulfase-IT can participate. Participants or their legal representatives must sign an informed consent form. Patients must have been receiving Elaprase regularly in previous studies.

Exclusion criteria: Females cannot participate in this study. Patients without cognitive impairment, those not receiving the specific treatments being studied, and those outside the designated age range are excluded.

Study focus: The primary goal is to monitor long-term safety by tracking adverse events and reactions related to the medication, the implantable device, and the administration procedure. The study continues until January 2034, allowing researchers to gather comprehensive long-term safety data.

Investigational drugs: Idursulfase-IT is administered into the spinal canal to manage symptoms, particularly cognitive impairment. Elaprase provides enzyme replacement therapy by delivering the missing iduronate-2-sulfatase enzyme that helps break down accumulated substances in the body.

Study on the Effectiveness and Safety of DNL310 vs Idursulfase for Children and Young Adults with Mucopolysaccharidosis Type II

This trial compares two treatments: Tividenofusp Alfa (DNL310), a new treatment being tested, and Idursulfase, an existing approved therapy. Both are given through intravenous infusion.

Inclusion criteria: Participants must be aged 2 to less than 6 years for Cohort A or 6 to less than 26 years for Cohort B. They must have a confirmed diagnosis of the condition. Those not in the run-in groups must have tolerated at least 4 months of idursulfase therapy before screening.

Exclusion criteria: Patients with medical conditions other than MPS II, those outside the specified age ranges, and those who cannot follow study procedures are excluded.

Study focus: The trial evaluates how these treatments affect the brain, behavior, and other health aspects over 96 weeks. Participants are divided into groups based on age and disease type. Researchers track changes in substances in the body, improvements in daily activities, liver and spleen size, walking ability, and lung function.

Investigational drugs: DNL310 is designed to reduce harmful substances in the cerebrospinal fluid and improve adaptive behavior by targeting molecules that accumulate in patients. Idursulfase is an established enzyme replacement therapy that supplements the missing enzyme, helping to break down complex sugars and improve physical function.

Study on the Effects and Safety of JR-141 and Idursulfase for Patients with Hunter Syndrome

This trial tests JR-141, a new treatment, and compares it with Elaprase (idursulfase), an existing therapy. The study lasts approximately two years and includes the possibility of some participants receiving a placebo.

Inclusion criteria: Participants or their legal representatives must sign consent forms. Patients must have confirmed MPS II diagnosis through enzyme activity tests, genetic testing, and specific symptoms or urine tests. They can be new to treatment or on stable enzyme replacement therapy for more than 12 weeks. Different cohorts have specific age and cognitive test requirements. Participants who can have children must use effective birth control, and those with hearing loss should use hearing aids consistently.

Exclusion criteria: Patients with conditions other than MPS II, those outside specified age ranges, those not in the trial groups, and those not part of vulnerable populations are excluded.

Study focus: The trial evaluates effectiveness and safety through regular check-ups including cognitive tests, physical examinations, and laboratory tests. Researchers monitor changes in cognitive abilities, liver and spleen size, physical endurance, and overall safety. The study is expected to conclude by the end of 2026.

Investigational drug: JR-141 is administered through intravenous infusion and works by delivering a modified enzyme that can cross the blood-brain barrier. It aims to replace the deficient enzyme and address both central nervous system and body-wide symptoms.

Study on the Safety of DNL310 for Children with Hunter Syndrome

This trial focuses on evaluating the safety of DNL310 in children with the condition. The treatment is given as an intravenous infusion directly into the bloodstream.

Inclusion criteria: Children must have a confirmed diagnosis of Hunter Syndrome. Different cohorts have specific age requirements: Cohort A (5-10 years with neuronopathic MPS II), Cohort B (1-18 years with various forms), Cohort C (under 4 years with neuronopathic type, including older relatives with the same genetic mutation), Cohort D (18 years or younger with enlarged liver who haven’t taken usual enzyme therapy), and Cohort E (specific age and disease type combinations, including those who completed previous studies). Participants receiving intravenous enzyme therapy must have tolerated at least 4 months of treatment.

Exclusion criteria: Only males can participate. Participants must be children within specified age ranges.

Study focus: The study monitors safety over multiple phases, including an initial 24-week period, a safety extension up to Week 104, and an open-label extension up to Week 261. Researchers track adverse events, infusion reactions, changes in urine substances, and other health indicators. The study is estimated to conclude by July 2027.

Investigational drug: DNL310 is designed to cross the blood-brain barrier and deliver therapeutic enzymes to the central nervous system. It is classified as an enzyme replacement therapy aimed at addressing neurological symptoms of the disease.

Summary

The six ongoing clinical trials for Mucopolysaccharidosis II span eight European countries, with the highest concentration of trials in France, Germany, Italy, and Spain. Most trials are available in multiple countries, providing broader access for patients across Europe.

Two investigational drugs dominate the research landscape: DNL310 and JR-141. DNL310 appears in four trials, while JR-141 is featured in two. Both medications are designed as enzyme replacement therapies that can cross the blood-brain barrier, specifically targeting central nervous system symptoms in addition to peripheral manifestations of the disease.

The trials vary in their scope and duration. Some focus on long-term safety monitoring extending up to 2029 and even 2034, while others compare new treatments against existing therapies like idursulfase. Several studies specifically include patients with cognitive impairment, reflecting the neurological impact of the condition.

Age ranges for participants differ across trials, with some accepting children as young as one year old and others including young adults up to 26 years. Most trials focus on male participants, though some recent studies include both genders. Several trials specifically accommodate vulnerable populations and those who have participated in earlier studies, providing continuity of care for patients who have shown benefit from experimental treatments.

The Netherlands stands out as the only country hosting a dedicated pediatric safety study, while France is the sole location for a trial combining intrathecal idursulfase-IT with intravenous Elaprase for patients with cognitive impairment.

Ongoing Clinical Trials on Mucopolysaccharidosis II

  • Long-term Safety and Efficacy Study of JR-141 (Pabinafusp Alfa) for Male Patients with Hunter Syndrome (Mucopolysaccharidosis II)

    Recruiting

    1 1 1
    Investigated diseases:
    Investigated drugs:
    France Germany Italy Poland Spain

  • Study on the Effects and Safety of JR-141 and Idursulfase for Patients with Hunter Syndrome

    Not recruiting

    1 1 1 1
    Investigated diseases:
    Investigated drugs:
    France Germany Italy Poland Spain

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