10 Participants Needed

In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases

(PEARL Trial)

RH
TM
EC
Overseen ByEmma Canepa, MS, CCRP
Age: 18 - 65
Sex: Female
Trial Phase: Phase 1
Sponsor: University of California, San Francisco
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)
Approved in 2 JurisdictionsThis treatment is already approved in other countries

What You Need to Know Before You Apply

What is the purpose of this trial?

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.

Will I have to stop taking my current medications?

The trial protocol does not specify whether you need to stop taking your current medications. However, if you require therapeutic dosing of anticoagulation (blood thinners) within 24 hours before or after the intervention, you may not be eligible to participate.

Is laronidase (Aldurazyme) safe for humans?

Laronidase (Aldurazyme) has been shown to have an acceptable safety profile in humans, with common side effects including fever, vomiting, rash, and hives. In a study, the approved dose had the lowest incidence of side effects, and long-term use showed it could stabilize or improve many symptoms of the condition it treats.12345

How is the drug Aldurazyme (laronidase) unique for treating lysosomal storage diseases?

Aldurazyme (laronidase) is unique because it is an enzyme replacement therapy specifically designed to replace the deficient enzyme in mucopolysaccharidosis type I (MPS I), and it is administered through intravenous infusions. This approach directly addresses the underlying enzyme deficiency, which is different from other treatments that may only manage symptoms.14567

What data supports the effectiveness of the drug Aldurazyme (laronidase) for treating lysosomal storage diseases?

Laronidase (Aldurazyme) is effective as an enzyme replacement therapy for mucopolysaccharidosis type I (MPS I), a type of lysosomal storage disease, by reducing glycosaminoglycan storage and improving symptoms like joint movement and respiratory function. It has been shown to have a good safety profile with manageable side effects.13458

Who Is on the Research Team?

TM

Tippi Mackenzie, MD

Principal Investigator

University of California, San Francisco

Are You a Good Fit for This Trial?

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.

Inclusion Criteria

I am a pregnant woman aged 18-50, between 18 to 34 weeks of pregnancy.
I am pregnant with a living fetus between 18 to 34 weeks.
My unborn baby has been diagnosed with a lysosomal storage disorder.
See 2 more

Exclusion Criteria

I have health issues that make it unsafe for me to undergo fetal surgery.
I will need blood-thinning medication around the time of my procedure.
My unborn child has a genetic condition posing a high health risk.
See 2 more

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

In utero enzyme replacement therapy (ERT) is administered to fetuses with Lysosomal Storage Disorders every 2-4 weeks via the umbilical vein.

Throughout pregnancy
Every 2-4 weeks (in-person)

Follow-up

Participants are monitored for safety and effectiveness after treatment, including assessment of adverse events and antibody levels.

6 years

What Are the Treatments Tested in This Trial?

Interventions

  • Aldurazyme (laronidase)
Trial Overview 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.
How Is the Trial Designed?
1Treatment groups
Experimental Treatment
Group I: Experimental: in utero enzyme replacement therapyExperimental Treatment1 Intervention

Aldurazyme (laronidase) is already approved in European Union, United States for the following indications:

🇪🇺
Approved in European Union as Aldurazyme for:
🇺🇸
Approved in United States as Aldurazyme for:

Find a Clinic Near You

Who Is Running the Clinical Trial?

University of California, San Francisco

Lead Sponsor

Trials
2,636
Recruited
19,080,000+

Duke University

Collaborator

Trials
2,495
Recruited
5,912,000+

Published Research Related to This Trial

Laronidase (Aldurazyme) is a safe and effective treatment for stabilizing or improving pulmonary function and physical endurance in patients with mucopolysaccharidosis type I (MPS-I).
While laronidase cannot correct central nervous system issues related to MPS-I, ongoing research is exploring intrathecal administration for specific complications, highlighting the need for long-term studies to better understand its overall impact on disease progression and survival.
Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I.Pastores, GM.[2019]
A retrospective study of 20 patients with mucopolysaccharidosis type I (MPS I) showed that switching from weekly laronidase infusions (0.58 mg/kg) to every other week (1.2 mg/kg) was well tolerated and did not lead to any deterioration in clinical outcomes.
Patients reported higher compliance and satisfaction with the every other week dosing regimen, suggesting it may be a viable alternative for those struggling with the standard weekly infusions.
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.Horovitz, DD., Acosta, AX., Giugliani, R., et al.[2018]
In a 26-week study involving 33 patients with mucopolysaccharidosis type I, the approved dose of laronidase (0.58 mg/kg weekly) was found to provide the best reduction in lysosomal storage and had the lowest incidence of adverse events compared to alternative dosing regimens.
All dosing regimens had an acceptable safety profile, but the approved regimen had fewer infusion-related reactions, making it the preferred option for maximizing treatment benefits while minimizing risks.
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I.Giugliani, R., Rojas, VM., Martins, AM., et al.[2008]

Citations

Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I. [2019]
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series. [2018]
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. [2008]
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). [2022]
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. [2009]
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. [2007]
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships. [2018]
Laronidase treatment of mucopolysaccharidosis I. [2018]
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