In utero enzyme replacement therapy for lysosomal storage disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This clinical trial aims to evaluate the safety and feasibility of administering enzyme replacement therapy to fetuses diagnosed with lysosomal storage disorders (LSDs) during pregnancy. The study focuses on fetuses at risk of serious complications, particularly those with Non-Immune Hydrops Fetalis (NIHF), which has a high perinatal mortality rate. By delivering the enzyme therapy in utero, the researchers hope to improve outcomes and potentially enhance neurodevelopmental results by addressing the condition during critical developmental periods. This phase 1 trial will assess the initial safety of the treatment approach.

Why it matters

Who can join: the full rules

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 study.

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.

Where it's running

• University of California
  San Francisco, California, United States Recruiting

Study contacts

• Principal investigator: Tippi MacKenzie, MD — University of California, San Francisco
• Study coordinator: Tippi MacKenzie, MD
• Email: tippi.mackenzie@ucsf.edu
• Phone: 415-476-4086

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.