In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases

  • STATUS
    Recruiting
  • End date
    Apr 18, 2032
  • participants needed
    10
  • sponsor
    University of California, San Francisco
Updated on 18 April 2021

Summary

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.

Description

Because fetuses with these LSDs are at increased risk of serious perinatal morbidity and mortality, particularly in the setting of Non-Immune Hydrops Fetalis (NIHF), the administration of the approved enzyme therapy in utero has the potential to significantly improve outcomes for affected fetuses. The perinatal death rate associated with NIHF ranges from 30 to 75%, so development of an in utero approach to treatment could be of significant benefit. The in utero period has been shown to be a time of relative fetal tolerance to immune stimuli, and this tolerance may lead to improved response to ERT in situations where postnatal initiation instead leads to antibody development and impaired response to treatment. It is also probable that in some cases, initiation of ERT in utero leads to improved neurodevelopmental outcomes if the replaced enzyme impacts the neurologic system during critical periods of development.

This is a phase 1 clinical trial to determine the safety and feasibility of fetal enzyme replacement therapy in fetuses with LSD

Details
Condition beta-Glucuronidase Deficiency, Hunter's Syndrome, Gaucher Disease, Wolman's Disease, Osteochondrodystrophy, Maroteaux-Lamy Syndrome, Cholesterol Ester Storage Disease, Hurler's Syndrome, Cholesterol Ester Storage Disease (CESD), Hunter Syndrome (MPS II), Wolman Disease, mucopolysaccharidosis type i, sly syndrome, neuronopathic gaucher disease, cesd, hurler syndrome, dysostosis multiplex, Pompe Disease Infantile-Onset, Pompe Disease Infantile-Onset
Treatment Aldurazyme (laronidase)
Clinical Study IdentifierNCT04532047
SponsorUniversity of California, San Francisco
Last Modified on18 April 2021

Eligibility

Yes No Not Sure

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
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
Mother will require therapeutic dosing of anticoagulation within 24 hours prior to or following the intervention
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