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New treatment option for Lysosomal Diseases
Official title 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
ClinicalTrials.gov ID: NCT03952637
What this study is testing
What is AAV9-GLB1?
AAV9-GLB1 is an investigational medicine, given as an infusion into a vein, being studied as a potential treatment for lysosomal diseases.
Plain-language explanation of the investigational treatment - it is being studied and is not an approved or proven therapy. The study team can confirm the details.
- What it's testing
- Background: GM1 gangliosidosis is a disorder that destroys nerve cells. It is fatal.
- Phase 2: a mid-size study of how well it works
- Which group you join is decided by chance.
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Ages 6 to 12
You may be able to join if
- Type I people
- Male or female people \>= 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
You likely can't join if
- AAV9 antibody titers \>1:50
- Contraindications to concomitant medications
- Serious illness that would not allow travel to the study site
- Unwilling to undergo study interventions as outlined in the Schedule of Events
- people receiving other unapproved, off-label or experimental therapies for GM1 gangliosidosis (i.e. miglustat, Tanganil) within the last 60 days
- Any prior participation in a study in which a gene therapy vector or stem cell transplantation was administered
See the full eligibility criteria
- Type I people
- Male or female people \>= 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 people: 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 people: 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 people
- Vineland-3 Adaptive Behavior composite standard score greater than or equal to 40
- Male or female people \> 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
- AAV9 antibody titers \>1:50
- Contraindications to concomitant medications
- Serious illness that would not allow travel to the study site
- Unwilling to undergo study interventions as outlined in the Schedule of Events
- people receiving other unapproved, off-label or experimental therapies for GM1 gangliosidosis (i.e. miglustat, Tanganil) within the last 60 days
- Any prior participation in a study in which a gene therapy vector or stem cell transplantation was administered
- Pregnant or lactating people
- Immunizations of any kind in the month prior to screening
- Evidence of cardiomyopathy on history, exam, or additional testing (echocardiogram or electrocardiogram) or other cardiac disease that in the opinion of the investigator would deem the subject unsafe to participate in...
- Indwelling ferromagnetic devices that would preclude MRI/fMRI/MRS imaging
- Ongoing medical condition that is deemed by the Principal Investigator to interfere with the conduct or assessments of the study
- History of infection with human immunodeficiency virus (HIV), hepatitis A, B, or C, or tuberculosis.
- History of or current chemotherapy, radiotherapy or other immunosuppressive therapy within the past 30 days. Corticosteroid treatment may be permitted at the discretion of the PI
- Abnormal laboratory values considered clinically significant per the investigator
- Failure to thrive, defined as: \-- Falling 20 percentiles (20/100) in body weight in the 3 months preceding Screening/Baseline
- Underlying defect in immune function
- History of multiple and severe life-threatening infections
The study team makes the final eligibility decision.
Where it's taking place
- Bethesda, Maryland, United States
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 6 months to 12 years. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include Bethesda, Maryland, United States. Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.