AX 250 for Sanfilippo Syndrome Type B

Recruiting at 5 trial locations

Overseen By Study Director

Age: Any Age

Sex: Any

Trial Phase: Phase 4

Sponsor: Allievex Corporation

Must not be taking: Stem cell, Gene therapy, others

Disqualifiers: Seizure disorder, Hydrocephalus, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: Unknown

Duration: 144 weeks

15 Participants Needed

Trial Summary

Will I have to stop taking my current medications?

The trial protocol does not specify whether you need to stop taking your current medications. However, you cannot have received any investigational medication within 30 days before the study starts or during the study.

What safety data exists for AX 250 or similar treatments?

Mavoglurant, which may be similar to AX 250, was tested in people with Fragile X Syndrome and was found to be generally safe over a long period, with no new safety concerns. However, some participants stopped using it due to side effects. ^{1 2 3 4 5}

How is the drug AX 250 unique for treating Sanfilippo Syndrome Type B?

AX 250 is unique because there are currently no FDA-approved treatments for Sanfilippo Syndrome Type B, making it a novel option for addressing this rare genetic disorder. ^{6 7 8 9 10}

What is the purpose of this trial?

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.

Research Team

Medical Director

Principal Investigator

Allievex Corporation

Eligibility Criteria

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.

Inclusion Criteria

My parent or guardian and I have both agreed to participate.

Has the ability to comply with protocol requirements in the opinion of the investigator

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

Exclusion Criteria

You have a condition that may cause problems with receiving the drug through a particular method of administration.

Would not benefit from enrolling in the study in the opinion of the investigator

Has received any investigational medication within 30 days prior to the Baseline visit or is scheduled to receive any investigational drug during the course of the study

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive AX 250 treatment via intracerebroventricular infusion every other week

144 weeks

Bi-weekly visits for infusion

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

Open-label extension

Continuation of AX 250 treatment to further evaluate safety, tolerability, and efficacy

Up to 3 years

Treatment Details

Interventions

• AX 250

Trial Overview 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.

Participant Groups

Group I: single arm Experimental Treatment 1 Intervention

AX 250 300 mg - open label

Who Is Running the Clinical Trial?

Allievex Corporation

Lead Sponsor

Trials

5

Recruited

120+

Findings from Research

Mavoglurant, a drug targeting metabotropic glutamate receptor subtype-5, was found to be well tolerated in a long-term study with 267 participants (119 adolescents and 148 adults) over up to 34 months, showing no new safety concerns.

While the drug did not show significant behavioral benefits in initial studies, gradual improvements were noted in the open-label extensions, suggesting that further research is needed to explore its efficacy in treating Fragile X syndrome.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents. Hagerman, R., Jacquemont, S., Berry-Kravis, E., et al.[2019]

NNZ-2566, a synthetic analog of IGF-1, showed promise in correcting various symptoms of Fragile X syndrome in fmr1 knockout mice, including learning and memory deficits, hyperactivity, and social interaction issues.

The study suggests that targeting the IGF-1 molecular pathway may be a novel and effective approach for treating Fragile X syndrome, with a clinical trial currently underway to evaluate its effects in human patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

NNZ-2566, a novel analog of (1-3) IGF-1, as a potential therapeutic agent for fragile X syndrome. Deacon, RM., Glass, L., Snape, M., et al.[2018]

Trofinetide was found to be well tolerated and generally safe in a phase 2 study involving 56 adolescent and adult females with Rett syndrome, indicating its potential as a therapeutic option for this condition.

At the higher dose of 70 mg/kg, trofinetide showed promising efficacy compared to placebo, suggesting it may lead to clinically meaningful improvements in key symptoms of Rett syndrome, despite the study's short duration.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome. Glaze, DG., Neul, JL., Percy, A., et al.[2018]

References

1. United States pubmed.ncbi.nlm.nih.gov

Starting stiripentol in adults with Dravet syndrome? Watch for ammonia and carnitine. [2021]

2. England pubmed.ncbi.nlm.nih.gov

Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents. [2019]

3. United States pubmed.ncbi.nlm.nih.gov

NNZ-2566, a novel analog of (1-3) IGF-1, as a potential therapeutic agent for fragile X syndrome. [2018]

4. United States pubmed.ncbi.nlm.nih.gov

A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome. [2018]

5. United States pubmed.ncbi.nlm.nih.gov

Effectiveness and safety of donepezil in boys with fragile x syndrome: a double-blind, randomized, controlled pilot study. [2022]

6. United States pubmed.ncbi.nlm.nih.gov

Economic Burden of Sanfilippo Syndrome in the United States. [2023]

7. England pubmed.ncbi.nlm.nih.gov

Expanding the phenotype of Filippi syndrome: a report of three cases. [2004]

8. England pubmed.ncbi.nlm.nih.gov

Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene. [2017]

9. England pubmed.ncbi.nlm.nih.gov

Filippi syndrome: a new case with skeletal abnormalities. [2019]

10. England pubmed.ncbi.nlm.nih.gov

Filippi syndrome with mild learning difficulties. [2019]