RECRUITING

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

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

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

Quick Facts

Study Start:2021-07-01

Study Completion:2032-07

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT04532047

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.

Ages Eligible for Study:18 Years to 50 Years

Sexes Eligible for Study:FEMALE

Accepts Healthy Volunteers:No

Standard Ages:ADULT

Inclusion Criteria	Exclusion 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.

Inclusion Criteria

Exclusion 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.

Contacts and Locations

Study Contact

Tippi MacKenzie, MD

CONTACT

415-476-4086

tippi.mackenzie@ucsf.edu

Emma Canepa, MS, CCRP

CONTACT

415-476-7255

Emma.Canepa@ucsf.edu

Principal Investigator

Tippi MacKenzie, MD

PRINCIPAL_INVESTIGATOR

University of California, San Francisco

Study Locations (Sites)

University of California

San Francisco, California, 94158

United States

Collaborators and Investigators

Sponsor: University of California, San Francisco

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2021-07-01

Study Completion Date2032-07

Study Record Updates

Study Start Date2021-07-01

Study Completion Date2032-07

Terms related to this study

Additional Relevant MeSH Terms

MPS I
MPS II
MPS IVA
MPS VI
Mps VII
Gaucher Disease, Type 2
Gaucher Disease, Type 3
Pompe Disease Infantile-Onset
Wolman Disease