What side effects are associated with this type of intervention?

The most common treatments for Sanfilippo Syndrome, such as enzyme replacement therapy (ERT) and gene therapy delivered intracerebroventricularly (ICV), can have several side effects. ERT may cause infusion-related reactions, including fever, chills, rash, and headaches. Gene therapy, particularly when administered ICV, can lead to adverse events such as infections, inflammation at the injection site, and potential neurological effects like seizures or changes in mental status. Both treatments require careful monitoring to manage these side effects effectively.

What prior FDA approvals exist?

As of now, there are no FDA-approved treatments specifically for Sanfilippo Syndrome that involve Enzyme Replacement Therapy (ERT) or Gene Therapy delivered intracerebroventricularly. The AX 250 trial represents an ongoing effort to evaluate such treatments. Current research is focused on these advanced therapeutic approaches, but they remain in the experimental stages.

What other types of research exist?

Promising novel alternatives to AX 250 for Sanfilippo Syndrome patients include pharmacologic inhibition of histone demethylation and the use of chimeric antigen receptor (CAR)-expressing T cells targeting GD2. Additionally, the investigational oral compound ONC201, which is under active investigation for H3 K27-altered midline gliomas, may offer potential due to its mechanism involving mitochondrial metabolism and stress response pathways. Local therapies such as DNX-2401, an oncolytic adenovirus administered by catheter infusion, are also being studied and could be considered as emerging alternatives.

← Back to Search

Enzyme Replacement Therapy

AX 250 for Sanfilippo Syndrome Type B

Phase 4

Waitlist Available

Research Sponsored by Allievex Corporation

Eligibility Criteria Checklist

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

Must have

If female with childbearing potential, must have a negative pregnancy test at the Screening visit and be willing to have additional pregnancy tests during the study

Must not have

Has received stem cell, gene therapy or enzyme replacement therapy (other than AX 250) for MPS IIIB

Has a history of poorly controlled seizure disorder

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline to 144 weeks of treatment

Awards & highlights

Drug Has Already Been Approved

No Placebo-Only Group

Pivotal Trial

Summary

This trial tests AX 250, a medicine given directly into the brain, in people with MPS IIIB. The goal is to see if it improves thinking, communication, and quality of life by delivering the medicine straight to where it's needed in the brain.

Who is the study for?

This trial is for individuals with Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome, who have completed the Study 250-202. Participants must be able to follow the study plan and females of childbearing age should test negative for pregnancy. Those with very low cognitive scores or no improvement in previous studies, recent other treatments or investigational drugs, severe medical conditions, or risk from brain infusions cannot join.

What is being tested?

The trial tests AX 250 delivered directly into the brain fluid every two weeks for up to three years. It aims to see how well it works on neurocognitive function and quality of life in MPS IIIB patients while monitoring safety through adverse events and regular health checks.

What are the potential side effects?

While specific side effects are not listed here, participants will be monitored for any adverse reactions related to AX 250 treatment which could include issues at the infusion site in the brain or general drug-related side effects.

Eligibility Criteria

Inclusion Criteria

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

Select...

I am not pregnant and agree to regular pregnancy tests during the study.

Exclusion Criteria

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

Select...

I have received treatments like stem cell, gene therapy, or enzyme replacement for MPS IIIB, but not AX 250.

Select...

I have a history of seizures that are hard to control.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline to 144 weeks of treatment

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline to 144 weeks of treatment

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline to 144 weeks of treatment for reporting.

Treatment Details

Study Objectives

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

Primary study objectives

Primary - neurocognition

Awards & Highlights

Drug Has Already Been Approved

The FDA has already approved this drug, and is just seeking more data.

No Placebo-Only Group

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

Pivotal Trial

The final step before approval, pivotal trials feature drugs that have already shown basic safety & efficacy.

Trial Design

1Treatment groups

Experimental Treatment

Group I: single armExperimental Treatment1 Intervention

AX 250 300 mg - open label

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

AX 250

2016

Completed Phase 2

~30

0 / 3Eligibility 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

Sanfilippo Syndrome treatments like Enzyme Replacement Therapy (ERT) and Gene Therapy focus on addressing the enzyme deficiencies that cause the disease. ERT supplements the missing enzyme to reduce harmful substance buildup, while Gene Therapy introduces functional genes to enable enzyme production. Intracerebroventricular (ICV) delivery, as used in the AX 250 trial, administers these treatments directly into the brain, bypassing the blood-brain barrier and potentially improving neurological outcomes. This approach is vital for Sanfilippo patients, as the disease severely impacts the central nervous system, leading to cognitive and behavioral issues.

Bone marrow transplantation for Sanfilippo disease type B.Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial.