← Back to Search

Gene Therapy

Gene Therapy for Tay-Sachs and Sandhoff Diseases

Phase 1
Waitlist Available
Led By Terence Flotte, MD
Research Sponsored by Terence Flotte
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Surgical readiness for gene transfer by the routes of administration confirmed by the study neurosurgeon, based on examination and magnetic resonance imaging (MRI) findings
Male or female subjects born between 37 - 42 weeks gestation with genetically diagnosed TSD or SD mutations of either HEXA gene or HEXB gene
Timeline
Screening 3 weeks
Treatment Varies
Follow Up 48 weeks (infantile-onset participants) to 96 weeks (juvenile-onset participants)
Awards & highlights

Study Summary

This trial is designed to study the safety and efficacy of a gene therapy treatment for two rare, fatal, pediatric neurodegenerative disorders caused by defects in the HEXA or HEXB genes.

Who is the study for?
This trial is for pediatric patients with Tay-Sachs or Sandhoff Diseases. Infants must be 6-20 months old and able to sit without support, while juveniles should be 2-12 years old with certain clinical features. Participants can't have had previous gene therapy, need to stop specific treatments before joining, and must travel reliably to the study site.Check my eligibility
What is being tested?
The AXO-GM2-001 study tests different doses of AXO-AAV-GM2 gene therapy delivered into the brain and spinal fluid of children with genetic disorders affecting nerve cells. It aims to restore enzyme function by introducing healthy genes using a virus vector in two stages: dose escalation then safety and efficacy.See study design
What are the potential side effects?
While not explicitly listed, potential side effects may include reactions related to immune response against the viral vector or complications from brain/spinal fluid delivery methods such as inflammation, infection risk increase, or neurological symptoms.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
Select...
I am cleared for gene therapy by a neurosurgeon after an exam and MRI.
Select...
I was born full-term and have a genetic diagnosis of TSD or SD.
Select...
My child is between 6-20 months old and has been diagnosed with infantile-onset TSD or SD.
Select...
I am between 2 and 12 years old and have juvenile-onset condition.
Select...
My child has been able to sit without support for at least 5 seconds.
Select...
I am willing to stop taking Zavesca or Tanganil 30 days before screening starts.
Select...
My child was diagnosed with Tay-Sachs disease or Sandhoff disease early in life.
Select...
I have a genetic diagnosis of TSD or SD due to HEXA or HEXB gene mutations.
Select...
I can travel to the study site for all required visits.
Select...
I can sit without support for at least 5 seconds.
Select...
I have been diagnosed with juvenile-onset Tay-Sachs or Sandhoff disease.
Select...
I can travel to the study site for all required visits.
Select...
A neurosurgeon has approved me for gene transfer surgery.
Select...
I am between 2 and 12 years old with a diagnosis of juvenile-onset TSD or SD.
Select...
My child is between 6 to 20 months old.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~48 weeks (infantile-onset participants) to 96 weeks (juvenile-onset participants)
This trial's timeline: 3 weeks for screening, Varies for treatment, and 48 weeks (infantile-onset participants) to 96 weeks (juvenile-onset participants) for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.
Primary outcome measures
Incidence, severity, seriousness and relatedness to treatment of treatment emergent adverse events
Secondary outcome measures
Electroencephalograms alpha, beta, delta, and theta wave frequencies (Hz)
Number of participants with abnormal clinical safety laboratory tests on blood/urine/CSF
Number of participants with abnormal physical exam per investigator assessment
+2 more

Trial Design

1Treatment groups
Experimental Treatment
Group I: AXO-AAV-GM2Experimental Treatment4 Interventions
AXO-AAV-GM2 infusion

Find a Location

Who is running the clinical trial?

Terence FlotteLead Sponsor
Sio Gene TherapiesLead Sponsor
3 Previous Clinical Trials
175,051 Total Patients Enrolled
University of Massachusetts, WorcesterOTHER
339 Previous Clinical Trials
945,529 Total Patients Enrolled

Media Library

AXO-AAV-GM2 High Dose (Gene Therapy) Clinical Trial Eligibility Overview. Trial Name: NCT04669535 — Phase 1
Tay-Sachs Disease Research Study Groups: AXO-AAV-GM2
Tay-Sachs Disease Clinical Trial 2023: AXO-AAV-GM2 High Dose Highlights & Side Effects. Trial Name: NCT04669535 — Phase 1
AXO-AAV-GM2 High Dose (Gene Therapy) 2023 Treatment Timeline for Medical Study. Trial Name: NCT04669535 — Phase 1
Tay-Sachs Disease Patient Testimony for trial: Trial Name: NCT04669535 — Phase 1

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

What is the current size of this trial's participant pool?

"Correct. Clinicaltrials.gov data confirms this trial, which was launched on the 15th of January 2021, is recruiting candidates at present. Two medical centres are enrolling 18 patients in total."

Answered by AI

How likely are adverse effects to present in patients taking AXO-AAV-GM2 at the recommended starting dose?

"Our team at Power identified AXO-AAV-GM2 Starting Dose as a Level 1 treatment, due to the limited clinical data defining its safety and efficacy."

Answered by AI

Is this experiment open to participants of legal age?

"According to the criteria outlined by this medical trial, eligible participants must lie between 6 months and 12 years of age. Moreover, 7 trials are available for those under 18 whereas 3 specifically caters to seniors aged 65 or older."

Answered by AI

Is my participation permissible in this exploration?

"This trial necessitates the recruitment of 18 children with Tay-Sachs disease within the ages 6 Months to 12 years. Patients must have a genetically diagnosed TSD or SD mutation in either HEXA gene or HEXB gene, an ability to travel regularly for assessment visits, be over 2 and below 12 if they suffer from juvenile onset, between 6 and 20 months at time of transfer if suffering from infantile onset; furthermore they should possess current or past capability to sit without support for 5 seconds as well as agreement on ceasing any off-label Zavesca® (miglustat) and/or Tanganil"

Answered by AI

Are there any unfilled positions for participants in this research?

"Yes, the evidence on clinicaltrials.gov indicates that this experiment is presently looking for participants. This research first began recruiting in mid-January 2021 and was last modified at the end of January 2021. The investigators are hoping to enroll 18 individuals across two sites."

Answered by AI

Who else is applying?

What state do they live in?
Georgia
What site did they apply to?
University of Massachusetts Medical Health Center
Massachusetts General Hospital, Center for Rare Neurological Diseases
What portion of applicants met pre-screening criteria?
Met criteria
Did not meet criteria
How many prior treatments have patients received?
0

What questions have other patients asked about this trial?

How long does the trial take? How long would we need to be at the hospital? Has there been success with this trial as of right now?
PatientReceived no prior treatments

Why did patients apply to this trial?

My son has Tay Sachs and we are looking to join the trial to help save him!
PatientReceived 1 prior treatment
My son has Tay Sachs and we are looking to join the trial to help save him! He is still able to feed himself, able to walk with a walker but mainly crawls, cognitive no declines, started seizures Jan 31st but they are under control with meds. He has not been involved in any clincial trial as of right now.
PatientReceived 1 prior treatment
We belive this only hope for out 8 years old Vasco. He still: walk, Run, go to school, play, eat Alone, Ride bike whith Help, love sea Baths,tell a few words, understand everything and simply orders ... Its Time to do someting e fight this rare condition. We live on Portugal but if you acept US we go to Us for some time. Tks for de opportunaty.
PatientReceived no prior treatments

How responsive is this trial?

Typically responds via
Email
Most responsive sites:
  1. University of Massachusetts Medical Health Center: < 48 hours
Average response time
  • < 2 Days
~2 spots leftby Nov 2024