Not Yet RecruitingPhase 1

Prenatal Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis Clinical Trial

5 participantsStarted 2026-06-01

Plain-language summary

This is a study for the administration of in utero AAV9 transfer in prenatally diagnosed Type I or Type II GM1.

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

✓. 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).

✕. Pregnant women age 18 years or older, carrying a live fetus at 28 0/7 weeks to 35 6/7 weeks gestation
✕. Identified through the above listed means to be carrying a fetus with GM1 Type I or II
✕. Ability to give written informed consent oneself and comply with the requirements of the study
✕. inability to complete the procedure secondary to maternal body habitus or placental location
✕. significant cardiopulmonary disease
✕. mirror syndrome
✕. end organ failure
✕. altered mental status

Safety

Timeframe: 5 years

NCT IDNCT07479953

SponsorTippi Mackenzie

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2038-06-01

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

✓. 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).

✕. Pregnant women age 18 years or older, carrying a live fetus at 28 0/7 weeks to 35 6/7 weeks gestation
✕. Identified through the above listed means to be carrying a fetus with GM1 Type I or II
✕. Ability to give written informed consent oneself and comply with the requirements of the study
✕. inability to complete the procedure secondary to maternal body habitus or placental location
✕. significant cardiopulmonary disease
✕. mirror syndrome
✕. end organ failure
✕. altered mental status