Projects per year
Personal profile
Research interests
Dr. Julie Eisengart is an Associate Professor in the Department of Pediatrics and the Director of the Neurodevelopmental Program in Rare Disease. As a pediatric neuropsychologist, she specializes in rare neurodegenerative disorders of childhood. Her research focuses on the changing relationships between brain structure, biochemical abnormalities, and brain function in rare disease, with the goal of predicting outcomes and improving supportive planning. She has been heavily involved in examining outcomes of early diagnosis, newborn screening, and/or novel therapies for rare disease (i.e. all phases of clinical trials). Her research extends to defining and measuring aspects of disease that are under-represented in the clinical and research communities but are important and meaningful to patients and their families, such as neurobehavioral symptoms and the caregiver lived experience.
A complete list of published work is available here:
https://www.ncbi.nlm.nih.gov/pubmed/?term=Julie+Eisengart
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Research Interest Keywords
- lysosomal storage disorders
- mucopolysaccharidosis
- adrenoleukodystrophy
- neurocognitive endpoints
- neurocognitive decline
- IQ and developmental quotient
- biomarkers
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Collaborations and top research areas from the last five years
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Analysis of long-term somatic and functional outcomes of hematopoietic cell transplantation (HCT) for alpha-mannosidosis, with consideration of prospects for gene therapy
Eisengart, J. (PI), Lund, T. C. (CoI) & Yund, B. D. (CoI)
INTL SOCIETY FOR MANNOSIDOSIS & RELATED
9/1/23 → 8/31/25
Project: Research project
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An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants with Type 2 Gaucher Disease
Whitley, C. B. (PI), Eisengart, J. (CoI), Jarnes, J. R. (CoI) & Miller, B. S. (CoI)
9/8/20 → 1/1/26
Project: Research project
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Lysosomal Disease Network
Whitley, C. B. (PI), Ahmed, A. (CoI), Braunlin, E. A. (CoI), Cortez, D. (CoI), Eisengart, J. (CoI), King, K. E. (CoI), Nestrasil, I. (CoI) & Orchard, P. J. (CoI)
NIH NAT INST OF NEURO DISORDERS & STROKE
9/15/19 → 7/31/25
Project: Research project
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Blood-Based Biomarkers for Sanfilippo Syndrome Progression and Treatment - Analysis of Gangliosides
Eisengart, J. (PI)
UNIVERSITY OF CALIFORNIA, LOS ANGEL, CURE SANFILIPPO FOUNDATION
9/3/21 → 9/2/23
Project: Research project
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Data on outcomes with allogenic haematopoietic stem cell transplants in Mucopolysaccharidosis type I
Orchard, P. J. (PI), Eisengart, J. (CoI), Lund, T. C. (CoI) & Miller, B. S. (CoI)
9/9/20 → 5/6/22
Project: Research project
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Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I
Svatkova, A., Pasternak, O., Eisengart, J. B., Rudser, K. D., Bednařík, P., Mueller, B. A., Delaney, K. A., Shapiro, E. G., Whitley, C. B. & Nestrašil, I., Jan 2025, In: Journal of Inherited Metabolic Disease. 48, 1, e12830.Research output: Contribution to journal › Article › peer-review
Open Access -
Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo syndrome) type IIIA
Shapiro, E. G., Eisengart, J. B., Whiteman, D. & Whitley, C. B., Feb 2024, In: Molecular Genetics and Metabolism. 141, 2, 108110.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Anakinra in Sanfilippo syndrome: a phase 1/2 trial
Polgreen, L. E., Chen, A. H., Pak, Y., Luzzi, A., Morales Garval, A., Acevedo, J., Bitan, G., Iacovino, M., O’Neill, C. & Eisengart, J. B., Sep 2024, In: Nature Medicine. 30, 9, p. 2473-2479 7 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan
Nakamura, K., Sakai, N., Hossain, M. A., Eisengart, J. B., Yamamoto, T., Tanizawa, K., So, S., Schmidt, M. & Sato, Y., Dec 2024, In: Orphanet Journal of Rare Diseases. 19, 1, 104.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Author Correction: Anakinra in Sanfilippo syndrome: a phase 1/2 trial(Nature Medicine , 10.1038/s41591-024-03079-3)
Polgreen, L. E., Chen, A. H., Pak, Y., Luzzi, A., Morales Garval, A., Acevedo, J., Bitan, G., Iacovino, M., O’Neill, C. & Eisengart, J. B., Sep 2024, In: Nature Medicine. 30, 9, p. 2693 1 p.Research output: Contribution to journal › Comment/debate › peer-review
Open Access