In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases

Trial end date:
Target enrollment:
Participant gender:
The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.
Phase 1
Accepts Healthy Volunteers?
Lead Sponsor:
University of California, San Francisco
Duke University
Inclusion Criteria:

- Live male or female fetuses at 18 0/7 weeks to 34 6/7 weeks gestation

- Diagnosis of one of the 8 included LSDs in utero by genetic or enzymatic analyses
performed on amniotic fluid, fetal blood, placental tissue, or other samples through
chorionic villus sampling (CVS), amniocentesis, cordocentesis, cell free fetal DNA, or
other procedures. In the event that parents are identified as genetic carriers for a
LSD, diagnostic testing for the fetus would be performed to confirm the diagnosis

- Pregnant women age 18 years to 50 years, carrying a live male or female fetus at 18
0/7 weeks to 34 6/7 weeks gestation

- Identified through the above listed means to be carrying a fetus with an LSD.

- Ability to give written informed consent and comply with the requirements of the

Exclusion Criteria:

- Fetuses with a concurrent severe structural anomaly

- Fetuses with an additional pathogenic genetic variant not related to the underlying
LSD that contribute a significant risk of morbidity or mortality.

Hydrops fetalis will not be an exclusion criterion because ERT has the possibility of
significant benefit in this situation.

- Women with one or more significant comorbidities that would preclude fetal
intervention including, but not limited to:

1. inability to complete the procedure secondary to maternal body habitus or
placental location

2. significant cardiopulmonary disease

3. mirror syndrome

4. end organ failure

5. altered mental status

6. placental abruption

7. active preterm labor

8. preterm premature rupture of membranes.

- Mother will require therapeutic dosing of anticoagulation within 24 hours prior to or
following the intervention.