What side effects are associated with this type of intervention?

The most common treatments for Hunter Syndrome, such as Idursulfase-IT and Elaprase (enzyme replacement therapy), are generally well-tolerated but can have side effects. These include mild to moderate reactions at the injection site, such as pain, erythema, and bruising. Some patients may experience hypersensitivity reactions, including rash, pruritus, and urticaria. Serious allergic reactions are rare but can occur. Long-term safety data is being collected to better understand the full spectrum of potential adverse effects.

What prior FDA approvals exist?

The FDA has approved Elaprase (idursulfase) for the treatment of Hunter Syndrome (Mucopolysaccharidosis II, MPS II). Elaprase is an enzyme replacement therapy (ERT) designed to replace the deficient or absent iduronate-2-sulfatase enzyme in patients with Hunter Syndrome. This treatment helps reduce the accumulation of glycosaminoglycans (GAGs) in the body, which is characteristic of the disease. The ongoing study of Idursulfase-IT in conjunction with intravenous Elaprase aims to evaluate the long-term safety and clinical outcomes of this combined approach in pediatric patients with cognitive impairment due to Hunter Syndrome.

What other types of research exist?

Promising novel alternatives to Idursulfase-IT and Elaprase for Hunter Syndrome patients include gene therapy approaches, such as those using adeno-associated virus (AAV) vectors to deliver functional copies of the IDS gene directly to patient cells. Additionally, substrate reduction therapy (SRT) and small molecule therapies targeting the underlying pathophysiology of Hunter Syndrome are being explored. These alternatives aim to provide more effective and potentially less invasive treatment options.

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Enzyme Replacement Therapy

Enzyme Replacement Therapy for Hunter Syndrome

Phase 1 & 2

Waitlist Available

Research Sponsored by Shire

Eligibility Criteria Checklist

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

Must have

The participant has received and tolerated a minimum of 12 months of treatment with weekly IV infusions of Elaprase and has received 80% of the total planned infusions within the last 6 months

Be younger than 65 years old

Must not have

The participant has experienced an adverse reaction to study drug in Study HGT-HIT-045 (NCT00920647) that contraindicates further treatment with intrathecal idursulfase-IT

Timeline

Screening 3 weeks

Treatment Varies

Follow Up from start of study drug administration up to follow-up (169 months)

Awards & highlights

No Placebo-Only Group

Summary

This trial is studying the long-term safety of a treatment for children with Hunter syndrome that affects their brain. The treatment involves giving a special enzyme directly into the spinal fluid and through the veins. This enzyme helps break down substances that can build up and cause damage. A similar treatment has been used for many years to treat Hunter syndrome, but it does not address neurological symptoms because it cannot reach the brain.

Who is the study for?

This trial is for pediatric patients with Hunter syndrome and cognitive impairment who have been treated with Elaprase IV infusions for at least a year. They must have tolerated the treatment well, completed prior study requirements, and not be part of another clinical study. Children unable to follow the protocol or at high risk from anesthesia are excluded.

What is being tested?

The trial is testing the long-term safety and outcomes of combining intrathecal Idursulfase-IT with intravenous Elaprase in children. It's an extension of a previous study, aiming to understand how these treatments work over time in managing Hunter syndrome.

What are the potential side effects?

Potential side effects may include reactions related to infusion such as swelling or pain at injection site, allergic responses, issues related to anesthesia during administration, and general risks associated with enzyme replacement therapies.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

Select...

I have been on Elaprase for 12 months and missed less than 20% of doses in the last 6 months.

Exclusion Criteria

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

Select...

I had a bad reaction to a drug in a previous study that means I can't have treatment with intrathecal idursulfase-IT.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ from start of study drug administration up to follow-up (169 months)

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~from start of study drug administration up to follow-up (169 months)

This trial's timeline: 3 weeks for screening, Varies for treatment, and from start of study drug administration up to follow-up (169 months) for reporting.

Treatment Details

Study Objectives

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

Primary study objectives

Number of Participants With Treatment-emergent Adverse Events (TEAEs)

Secondary study objectives

Area Under the Curve Extrapolated to Infinity (AUC0-infinity) of Idursulfase Administered as Intrathecal and in Conjunction With Elaprase

Area Under the Curve From the Time of Dosing to the Last Measureable Concentration (AUC0-t) of Idursulfase Administered as Intrathecal and in Conjunction With Elaprase

Change From Baseline in CSF Biomarkers

+11 more

Awards & Highlights

No Placebo-Only Group

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

Trial Design

1Treatment groups

Experimental Treatment

Group I: Idursulfase-ITExperimental Treatment2 Interventions

Idursulfase-IT will be administered once monthly and weekly IV infusions of Elaprase at the dose used in study HGT-HIT-045 via intrathecal drug delivery device (IDDD).

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

Elaprase

2010

Completed Phase 3

~90

Idursulfase-IT

2010

Completed Phase 3

~90

0 / 2Eligibility 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

Enzyme Replacement Therapy (ERT) for Hunter Syndrome, such as Idursulfase-IT and Elaprase, involves the administration of synthetic versions of the enzyme iduronate-2-sulfatase, which patients with Hunter Syndrome lack. This enzyme is crucial for breaking down glycosaminoglycans (GAGs), complex molecules that accumulate in various tissues and organs due to the enzyme deficiency. By supplementing the missing enzyme, ERT helps reduce the buildup of GAGs, thereby alleviating symptoms and preventing further damage to organs and tissues. This treatment is vital for improving the quality of life and slowing disease progression in Hunter Syndrome patients.