A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactos… (NCT03952637) | Clinical Trial Compass
RecruitingPhase 1/2
A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis
United States54 participantsStarted 2019-08-19
Plain-language summary
Background:
GM1 gangliosidosis is a disorder that destroys nerve cells. It is fatal. There is no treatment. People with GM1 are deficient in a certain enzyme. A gene therapy may help the body make this enzyme. This could improve GM1 symptoms.
Objective:
To test if a gene therapy helps Type I and Type II GM1 gangliosidosis symptoms.
Eligibility:
Type I subjects will be male and female \>= 6 months \<= 12 months of age at the time of full ICF signing.
Type II subjects will be male and female \> 12 months old and \< 12 years old at the time of full ICF signing.
Design:
Participants will be screened with their medical history and a phone survey.
Participants will stay at NIH for 8-10 weeks.
Participants will have baseline tests:
Blood, urine, and heart tests
Hearing tests
Ultrasound of abdomen
EEG: Sticky patches on the participant s head will measure brain function.
Lumbar puncture: A needle will be stuck into the participant s spine to remove fluid.
MRI scans, bone x-rays, and bone scans: Participants will lie in a machine that takes pictures of the body
IQ tests
Neurology exams
Central line placement
Skin biopsy: A small piece of the participant s skin will be removed.
Speech tests
Participants will have an x-ray while swallowing food.
Participants will take drugs by mouth and IV. This will get their immune system ready for therapy.
Participants will get the gene therapy by IV. They may stay at NIH for a week to watch for side effects.
Participants will have visits 3 and 6 months after treatment. Then visits will be every 6 months for 2 years. Then they will have a visit at 3 years. Visits will take 4-5 days.
Participants will return to NIH once a year for 2 years for tests in an extension study....
Who can participate
Age range
6 Months – 12 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
* INCLUSION CRITERIA:
Type I subjects
* Male or female subjects \>= 6 months old and \<= 12 months old at time of full ICF signing
* Biallelic mutations in GLB1
* Documented deficiency of Beta-galactosidase enzyme by clinical laboratory testing
* Phenotype consistent with a diagnosis of Type I GM1 gangliosidosis
* Symptomatic subjects: as determined by the opinion of the Principal Investigator and based on the criteria set forth by Brunetti-Pierri et al:
* Age of symptom onset \<= 6 months of age
* Rapidly progressive with developmental delay and hypotonia
* Pre- symptomatic subjects: must have mutations confirmed to be associated with the Type I subtype
* AAV9 antibody titers \<=1:50
* Agree to reside within 50 miles of the study site for at least 1 month following treatment
Type II subjects
* Vineland-3 Adaptive Behavior composite standard score greater than or equal to 40
* Male or female subjects \> 6 months old and \< 12 years old at time of full ICF signing
* Biallelic mutations in GLB1
* Documented deficiency of beta-galactosidase enzyme by clinical laboratory testing
* Phenotype consistent with a diagnosis of Type II GM1 gangliosidosis, with symptom onset after the first year of life
* AAV9 antibody titers \<=1:50
* Agree to reside within 50 miles of the study site for at least 1 month following treatment
EXCLUSION CRITERIA:
* AAV9 antibody titers \>1:50
* Contraindications to concomitant medications
* Serious illness that would not allow travel to…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Safety
Timeframe: Several time points over 3 years
Trial details
NCT IDNCT03952637
SponsorNational Human Genome Research Institute (NHGRI)