PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

Description

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, Gaucher Disease, Type 2, Gaucher Disease, Type 3, Pompe Disease Infantile-Onset, Wolman Disease

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Study Overview

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Study Details

Study overview

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.

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

Condition
MPS I
Intervention / Treatment

-

Contacts and Locations

San Francisco

University of California, San Francisco, California, United States, 94158

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * 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.
  • * 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.

Ages Eligible for Study

18 Years to 50 Years

Sexes Eligible for Study

FEMALE

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of California, San Francisco,

Tippi MacKenzie, MD, PRINCIPAL_INVESTIGATOR, University of California, San Francisco

Study Record Dates

2032-07