Recruiting
Phase 1

Enzyme Replacement Therapy

Sponsor:

UCLA

Code:

NCT04532047

Conditions

MPS I

MPS II

MPS IVA

MPS VI

Mps VII

Eligibility Criteria

Sex: Female

Age: 18 - 50

Healthy Volunteers: Not accepted

Interventions

Aldurazyme (laronidase)

Study Details

Brief summary:

For detailed information, please view our study website: https://pearltrial.ucsf.edu/

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.

Conditions

MPS I

MPS II

MPS IVA

MPS VI

Mps VII

Study ID

NCT04532047

Start date

Jul 1, 2021

Status verified date

Mar, 2026

Completion date

Jul 31, 2032

Anticipated

Primary completion date

Jul 31, 2031

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: Female

Age: 18 - 50

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

10 participants

Anticipated

Intervention Model

Single group

Primary purpose

Treatment

Interventions and Outcome Measures

Arms

experimental: Experimental: in utero enzyme replacement therapy

ERT will be delivered in utero. Typically, the target of the procedure to administer in utero ERT will be the umbilical vein near the insertion of the umbilical cord into the placenta. The dose of the ERT will be dependent on the specific disease process and enzyme being replaced, and the estimated weight of the fetus. The dosage will be the same as the recommended weight-based postnatal dosing, adjusted for estimated fetal weight. IUERT will be repeated every 2-4 weeks, which is an interval consistent with the standard of care for IUTs (every 2-4 weeks) to avoid excessive access through the umbilical vein. This interval is also consistent with the half-life of each relevant enzyme.

Interventions

Aldurazyme (laronidase)

Enzyme replacement therapy for lysosomal storage diseases

Primary outcome measure

  • Number of participants with treatment-related adverse events as assessed by CTCAE v5.0. [ Time Frame: 6 years ]
  • Number of participants to receive the full initial, weight-based dose of enzyme replacement therapy through the fetal umbilical vein, and subsequent doses throughout the pregnancy. [ Time Frame: 6 years ]
  • Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine. [ Time Frame: 6 years ]
  • The number of participants with improvement or resolution of hydrops (if present). [ Time Frame: 6 years ]

Central Contacts and Locations

Central contacts

Tippi MacKenzie, MD

415-476-4086tippi.mackenzie@ucsf.edu

Emma Canepa, MS, CCRP

415-476-7255Emma.Canepa@ucsf.edu

Locations

University of California

Recruiting

San Francisco, California, United States, 94158

Contacts

Emma Canepa, MS, CCRP

415-476-7255Emma.Canepa@ucsf.edu

More Information

Sponsor

University of California, San Francisco

Last update posted

Mar 17, 2026

Last verified

Mar, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of California, San Francisco on 2026-03-17.