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Enzyme Replacement Therapy

In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases (IUERT Trial)

Phase 1

Recruiting

Led By Tippi MacKenzie, MD

Research Sponsored by University of California, San Francisco

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

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

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

Must not have

Women with one or more significant comorbidities that would preclude fetal intervention including, but not limited to: inability to complete the procedure secondary to maternal body habitus or placental location, significant cardiopulmonary disease, mirror syndrome, end organ failure, altered mental status, placental abruption, active preterm labor, preterm premature rupture of membranes

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

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 6 years

Awards & highlights

No Placebo-Only Group

Summary

This trial will test if a baby with a Lysosomal Storage Disease can be safely treated in the womb.

Who is the study for?

This trial is for pregnant women aged 18-50 with fetuses diagnosed with certain Lysosomal Storage Diseases (LSDs) between 18 to nearly 35 weeks of gestation. Candidates must be able to consent and follow study requirements. Exclusions include mothers needing anticoagulation around the time of treatment, additional fetal genetic risks, or significant maternal health issues.

What is being tested?

The trial tests the safety and feasibility of administering Aldurazyme (laronidase), an enzyme replacement therapy, directly to a fetus in utero when diagnosed with LSDs like Gaucher Disease or Pompe Disease.

What are the potential side effects?

While specific side effects for in utero treatment are not detailed here, Aldurazyme may generally cause allergic reactions, breathing difficulties, fever, and blood pressure changes in other contexts.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I am a pregnant woman aged 18-50, between 18 to 34 weeks of pregnancy.

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I am pregnant with a living fetus between 18 to 34 weeks.

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My unborn baby has been diagnosed with a lysosomal storage disorder.

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My unborn child has been diagnosed with a lysosomal storage disorder.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I have health issues that make it unsafe for me to undergo fetal surgery.

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My unborn child has a genetic condition posing a high health risk.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 6 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~6 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and 6 years for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

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.

Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.

Number of participants with treatment-related adverse events as assessed by CTCAE v5.0.

+1 more

Secondary study objectives

Number of participants that show measured levels of antibodies against the enzyme.

Other study objectives

Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: Experimental: in utero enzyme replacement therapyExperimental Treatment1 Intervention

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.

0 / 6Eligibility criteria met