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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
Must not have
Participants for whom any of the proposed study procedures or medications (i.e., sirolimus, trimethoprim/sulfamethoxazole) would be contraindicated
Current clinically significant infections including any requiring systemic treatment including but not limited to human immunodeficiency virus (HIV), Hepatitis A, B, or C
Timeline
Screening 3 weeks
Treatment Varies
Follow Up up to 5 years
Awards & highlights
No Placebo-Only Group
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.
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.
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 belowSelect...
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...
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...
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 sit without support for at least 5 seconds.
Select...
I have been diagnosed with juvenile-onset Tay-Sachs or Sandhoff disease.
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.
Exclusion Criteria
You may be eligible for the trial if you check “No” for criteria below:Select...
I am not allergic or unable to take sirolimus or trimethoprim/sulfamethoxazole.
Select...
I do not have any serious infections, including HIV or Hepatitis.
Select...
I require a ventilator to help me breathe.
Select...
I have had seizures that medication couldn't control.
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I have lost a significant amount of weight in the last 3 months.
Select...
I do not have spinal conditions that prevent lumbar puncture procedures.
Select...
I have swallowing problems that can't be fixed with thicker drinks or a special bottle.
Select...
My genetic test shows I have a G269S or W474C mutation in HEXA.
Select...
My parent or guardian does not understand or agree to the study requirements.
Select...
I have had several lung infections from inhaling food or liquid in the past year.
Timeline
Screening ~ 3 weeks3 visits
Treatment ~ Varies
Follow Up ~ up to 5 years
Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~up to 5 years
Treatment Details
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: AXO-AAV-GM2Experimental Treatment4 Interventions
AXO-AAV-GM2 infusion
Find a Location
Who is running the clinical trial?
Terence FlotteLead Sponsor
1 Previous Clinical Trials
7 Total Patients Enrolled
1 Trials studying Tay-Sachs Disease
7 Patients Enrolled for Tay-Sachs Disease
Sio Gene TherapiesLead Sponsor
3 Previous Clinical Trials
100,051 Total Patients Enrolled
University of Massachusetts, WorcesterOTHER
362 Previous Clinical Trials
992,709 Total Patients Enrolled
Massachusetts General HospitalOTHER
3,026 Previous Clinical Trials
13,413,778 Total Patients Enrolled
1 Trials studying Tay-Sachs Disease
10 Patients Enrolled for Tay-Sachs Disease
Terence Flotte, MDPrincipal InvestigatorUniversity of Massachusetts Medical Health Center
1 Previous Clinical Trials
7 Total Patients Enrolled
1 Trials studying Tay-Sachs Disease
7 Patients Enrolled for Tay-Sachs Disease
Erika De Boever, DDS, PhDStudy DirectorSio Gene Therapies
1 Previous Clinical Trials
6 Total Patients Enrolled
Media Library
Eligibility Criteria:
This trial includes the following eligibility criteria:- You have a heart condition that makes it unsafe for you to have gene transfer surgery, as determined by the doctor.I am cleared for gene therapy by a neurosurgeon after an exam and MRI.I am not allergic or unable to take sirolimus or trimethoprim/sulfamethoxazole.I do not have any serious infections, including HIV or Hepatitis.I was born full-term and have a genetic diagnosis of TSD or SD.I require a ventilator to help me breathe.My child is between 6-20 months old and has been diagnosed with infantile-onset TSD or SD.I am between 2 and 12 years old and have juvenile-onset condition.Young participants must show at least 2 specific age-appropriate signs or abilities, as confirmed by the site examiner during screening and before starting treatment.I have had a swallowing test in the last 6 months.If you are a baby and want to join the study, you need to be able to do at least 3 of the following things, as confirmed by the doctor at the screening and before starting the treatment: [list the skills here].My child has been able to sit without support for at least 5 seconds.I have had seizures that medication couldn't control.I am willing to stop taking Zavesca or Tanganil 30 days before screening starts.My child was diagnosed with Tay-Sachs disease or Sandhoff disease early in life.I have a genetic diagnosis of TSD or SD due to HEXA or HEXB gene mutations.I have lost a significant amount of weight in the last 3 months.I do not have spinal conditions that prevent lumbar puncture procedures.I can travel to the study site for all required visits.I have swallowing problems that can't be fixed with thicker drinks or a special bottle.I can sit without support for at least 5 seconds.You have metal devices inside your body that would prevent you from having certain types of imaging tests.I am willing to stop taking Zavesca or Tanganil 30 days before screening starts.I have been diagnosed with juvenile-onset Tay-Sachs or Sandhoff disease.My genetic test shows I have a G269S or W474C mutation in HEXA.You have important abnormal test results from lab tests.My parent or guardian does not understand or agree to the study requirements.A neurosurgeon has approved me for gene transfer surgery.I haven't had chemotherapy, radiotherapy, or immunosuppressive therapy in the last 30 days.I have had several lung infections from inhaling food or liquid in the past year.I am between 2 and 12 years old with a diagnosis of juvenile-onset TSD or SD.My child is between 6 to 20 months old.
Research Study Groups:
This trial has the following groups:- Group 1: AXO-AAV-GM2
Awards:
This trial has 1 awards, including:- No Placebo-Only Group - All patients enrolled in this study will receive some form of active treatment.
Timeline:
This trial has the following timeline:- Screening: It may take up to 3 Weeks to process to see if you qualify in this trial.
- Treatment: The duration you will receive the treatment varies.
- Follow Ups: You may be asked to continue sharing information regarding the trial for 6 Months after you stop receiving the treatment.
Tay-Sachs Disease Patient Testimony for trial: Trial Name: NCT04669535 — Phase 1