Evidence mapPaperPMID 39891377Full record

ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2025

Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.

Beltran Borges, Emma Canepa, Irene J Chang, Akos Herzeg, Billie Lianoglou, Priya S Kishnani, Paul Harmatz, Tippi C MacKenzie, Jennifer L Cohen

2 registry-linked trialsAbstract readReview
In one paragraph

Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT02986698 phase1terminatednot on this map

A Single-Center, Non-Randomized Study of the Safety and Efficacy of In Utero Hematopoietic Stem Cell Transplantation for the Treatment of Fetuses With Alpha Thalassemia Major

TypeinterventionalSponsorUniversity of California, San FranciscoRan2017 to 2024Enrolled6ConditionsAlpha Thalassemia Major, Hemoglobinopathy, With Thalassemia, HemoglobinopathiesArmsin utero hematopoietic stem cell transplantation
NCT04532047 phase1recruitingnot on this map

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

TypeinterventionalSponsorUniversity of California, San FranciscoRan2021 to 2032Enrolled10ConditionsMPS I, MPS II, MPS IVA, MPS VIArmsAldurazyme (laronidase)
3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Recent advances in mucopolysaccharidosis IVA treatment.Orphanet journal of rare diseases · 2025
    Review
  5. Review
  6. Review
  7. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Beltran BorgesDepartment of Surgery, University of California San Francisco, San Francisco, California, USA.ORCID 0009-0004-6730-0398
Emma CanepaDepartment of Surgery, University of California San Francisco, San Francisco, California, USA.
Irene J ChangUCSF Center for Maternal-Fetal Precision Medicine, San Francisco, California, USA.
Akos HerzegUCSF Center for Maternal-Fetal Precision Medicine, San Francisco, California, USA.
Billie LianoglouDepartment of Surgery, University of California San Francisco, San Francisco, California, USA.
Priya S KishnaniDepartment of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.
Paul HarmatzDepartment of Pediatrics, Division of Gastroenterology, University of California San Francisco, San Francisco, California, USA.
Tippi C MacKenzieDepartment of Surgery, University of California San Francisco, San Francisco, California, USA.
Jennifer L CohenDepartment of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.ORCID 0000-0002-0385-1025

Funding

Developing strategies to identify candidate individuals for early genetic therapiesK23HD113824 · DUKE UNIVERSITY · 2025 to 2025
$153k
NICHD NIH HHS K23 HD113824NIH HHS 1K23HD113824
6 · The paper itself

Abstract

The expansion of prenatal genetic screening and diagnosis warrants the evaluation of approved postnatal therapies that may be safely and feasibly translated to prenatal administration to a fetus affected by monogenic disease. For lysosomal storage diseases (LSDs), enzyme replacement therapy (ERT) often represents the main therapeutic approach. In utero enzyme replacement therapy (IUERT) has several potential benefits compared to postnatal therapy, such as: (1) delivering enzyme before the onset of irreversible organ damage; (2) developing tolerance toward the recombinant enzyme; and (3) targeting the central nervous system through a more permeable blood-brain barrier. In this review, we examine the general and disease-specific rationale for IUERT, and provide an overview of the main elements of our current clinical trial for the prenatal treatment of early-onset lysosomal storage diseases. Trial Registration: IUERT clinical trial: NCT04532047; Alpha thalassemia clinical trial: NCT02986698.

Indexed as

Enzyme Replacement TherapyLysosomal Storage DiseasesClinical Trials, Phase I as TopicFemaleFetusHumansPregnancyPrenatal Diagnosisenzyme replacement therapyfetal therapyin utero enzyme replacement therapylysosomal storage diseases

Identifiers

PMID39891377
PMCPMC12310989

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.