This is a study for the administration of in utero AAV9 transfer in prenatally diagnosed Type I or Type II GM1.
In the event that parents are identified as genetic carriers of Type I or Type II GM1, diagnostic testing for the fetus would be performed to confirm the diagnosis
If the fetal genetic testing confirms known mutations, parental genetic testing would not be necessary to enroll the fetus.
If one of the mutations is a variant of unknown significance (VUS), but there is a family history (such as a sibling) with confirmed genetic diagnosis and phenotype of disease, this would fulfill the inclusion criteria.
The case must be reviewed and accepted by the enrollment advisory board (EAB) based on available clinical data (including age of onset and disease severity of affected family members), clinical presentation, literature review, available case studies, and available research assays (in addition to molecular testing as above).
Esophageal or bowel atresia
Sacrococcygeal teratomas
Chromosomal anomalies (e.g. trisomies)
Other severe genetic conditions that would impact survival early in life (e.g. muscular dystrophy)
Single group
Gene Transfer with an AAV9 Vector Expressing Human ß-galactosidase
DrugPrenatal administration of an AAV9 Vector Expressing Human ß-galactosidase
Safety
Safety (maternal and fetal): adverse and serious adverse events including, but not limited to, death within 24 hours after the procedure, stillbirth, death prior to initial hospital discharge, and serious related or serious unexpected adverse events exceeding those expected with the natural history of treated disease during the first five years of life. This will also include pregnancy outcome.
Immunity
Immunity: Assess maternal and neonatal immune responses to the gene transfer vector through measurement of antibody titers to AAV9 serum.
Feasibility
Feasibility: successful administration of the full weight-based dose of AAV9 through the fetal umbilical vein and need for halting the intervention prior to administration of a full dose for maternal or fetal indications.
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Tippi Mackenzie
Lead sponsor
University of California, San Francisco
Sponsor institution
This trial is not recruiting at the moment. You can still explore other options:
