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)
Tippi Mackenzie
Lead sponsor
University of California, San Francisco
Sponsor institution