Skip to main content
ScholarsBetaWeill Cornell Medicine

Overview

Zachary Grinspan, MD, MS, is Associate Professor of Pediatrics, Neurology, and Population Health Sciences at Weill Cornell Medicine. He is a pediatric epileptologist, health data scientist, and clinical trialist who builds multicenter infrastructure to improve outcomes for children with epilepsy and neurodevelopmental disorders. His research includes three portfolios.

Observational Research: Comparative Effectiveness and Epidemiology
Dr. Grinspan applies advanced statistical methods to electronic health record and patient registry data to answer questions important for children with epilepsy. Key techniques include causal inference from observational data and natural language processing of clinical notes. Using these methods, he established the incidence of rare epilepsies in a population-based sample, providing data for drug development and health services planning.

Clinical Trials: Drug Repurposing, Gene Therapy, and Trial Readiness
Dr. Grinspan directs a portfolio of interventional and non-interventional studies for children with monogenic developmental and epileptic encephalopathies (DEEs) and other neurodevelopmental disorders. The portfolio includes three first-in-human N-of-1 gene and antisense oligonucleotide (ASO) therapy studies, an investigator-initiated trial of glycerol phenylbutyrate, and a natural history study of MEF2C-related disorder.

He is a site investigator for industry-sponsored trials, including ASO therapies, and site PI for a privately funded STXBP1 natural history study. He is also clinical PI of the ARIA IMPACT Network, a New York State Psychiatric Institute/Columbia/Cornell trial network for children with autism of known genetic cause. He mentors medical students on trial-readiness projects, including disease concept model development and analysis of FDA guidance for natural history studies.

Data Science Foundations
Multicenter observational research relies on high-quality data and on technical, legal, and ethical infrastructure. Dr. Grinspan founded and directs two networks that gather electronic health record data for observational research. This includes Rare Epilepsies in New York City (RENYC; 5 centers, established 2015, CDC-funded) and the Pediatric Epilepsy Learning Healthcare System (PELHS; 20 academic medical centers, established 2017, NIH-funded).

Highlights

  1. 1
    Epilepsia · 2020
    ZGZachary Grinspan
    PMID: 33368200PMCID: PMC10508354DOIFirst author51 citations
  2. 2
    Annals of neurology · 2022
    ZGZachary Grinspan
    PMID: 35388521PMCID: PMC9482145DOISenior author25 citations
  3. 3
    Neurology · 2021
    ZGZachary Grinspan
    PMID: 34266919PMCID: PMC8480478DOIFirst author57 citations

Publications

136 publications

Funding

35 grantsView NIH portfolio on RePORTER ↗

Active

10 grants
  • PI
    CEPIE. Collaboration to Estimate the Pediatric Incidence of Epilepsy
    Centers for Disease Control and Prevention · 2026–2030
    U01DP006929-01-00
  • PI
    NS-PEACE Neonatal Seizures -Predicting Epilepsy and Assessing Comparative Effectiveness
    National Institute of Neurological Disorders and Stroke · 2023–2029
    R01NS130113-03
  • Co-I
    AR² - Autism Replication, Validation, and Reproducibility Center
    Office of the Director, NIH · 2025–2028
    OT2OD040511-01
  • Sub-PI
    Prevention of Infantile Spasms Relapse
    Pediatric Epilepsy Research Foundation · 2023–2027 · via University of California, Los Angeles
    UCLA 20224426
  • Co-I
    Phase IA/IB Study of AAVrh.10hFXN Therapy to Treat the Cardiomyopathy of Friedreich's Ataxia
    National Heart, Lung, and Blood Institute · 2020–2027
    R61HL151355-01
  • Sub-PI
    ARIA IMPACT (Aligning Research to Impact Autism Innovative Medicine and Precision Approaches to Clinical Trials) Network Grant
    Sergey Brin Family Foundation · 2026–2027 · via Research Foundation for Mental Hygiene, Inc.
    ARIA-IMPACT-006
  • PI
    A Phase 0 Non-Interventional, Multi-center, Natural History Study in Patients with Syntaxin Binding Protein 1 (STXBP1) Related Disorder
    STXBP1 Foundation · 2023–2027
    STXBP1 233148-01
  • Co-I
    SBIR Phase I: A Clinical Decision Making tool to improve diagnosis, management and research in rare and genetic disease
    National Science Foundation · 2026–2026 · via zebraMD INC
    2403838
  • Sub-PI
    An Innovative Collaboration to Enhance Status Epilepticus Identification and Research
    Pediatric Epilepsy Research Consortium INC (PERC) · 2025–2026 · via University of Colorado Denver Anschutz Medical Campus
    AWD-254065
  • Sub-PI
    Leveraging PELHS to Identify Risk Factors for IESS to LGS Progression
    LGS Foundation · 2024–2026 · via The Board of Trustees of the Leland Stanford Junior University
    SU 233355-02
Completed grants (25)
  • PI
    Phenylbutyrate for STXBP1 Encephalopathy- 1 year follow-up evaluation
    STXBP1 Foundation · 2022–2025
    STXBP1 224442-01
  • Sub-PI
    A Multimodal Biomarker-based Predictive Model for Infantile Spasms
    Pediatric Epilepsy Research Foundation · 2021–2024 · via Children's Hospital of Orange County
    CHOC 221436-01
  • PI
    David E Rogers Fellowship - The Predictive Value of Neighborhood-Level Social Determinants Variables for Pediatric Epilepsy Outcomes
    New York Academy of Medicine · 2023–2024Fellowship
    No publications yet
    NYAOM 230474-01
  • PI
    SECOND LINE MEDICATION FOR SPASMS -- REANALYSIS OF NISC DATA
    University of California, Los Angeles · 2022–2024Contract
    UCLA 1653PZA125
  • PI
    Disparity in Genetic Testing for Pediatric Epilepsy and the Development of Evidence-Based Quality Measures: A Single-Center Study
    CHILD NEUROLOGY EDUCATION AND RESEARCH FOUNDATION · 2023–2023
    CNF 232390-01
  • PI
    Pediatric Epilepsy Mortality Initiative (PEMI)
    BAND Foundation · 2021–2023
    BF 212023-02
  • PI
    Service Agreement with BCH under PERF grant "A Learning Healthcare System for Pediatric Epilepsy Pediatric Epilepsy Research Foundation"
    Boston Children's Hospital (Children's Hospital Corporation) · 2018–2023Contract
    SA 190273-01
  • Sub-PI
    A Multi-site Collaborative for Pediatric Epilepsy Surgery Outcomes Beyond Seizure Freedom
    Pediatric Epilepsy Research Foundation · 2021–2023 · via Children's Research Institute
    CRI 226578-01
  • PI
    A Learning Healthcare System for Pediatric Epilepsy Phase II
    Pediatric Epilepsy Research Foundation · 2019–2022
    PERF 210801-01
  • Co-I
    Identifying and Predicting Patients With Preventable High Utilization
    Patient-Centered Outcomes Research Institute · 2016–2022
    HSD 1604-35187
  • PI
    Service Agreement with Monte under PERF grant "A Learning Healthcare System for Pediatric Epilepsy"
    Montefiore Medical Center · 2018–2022Contract
    SA 184286-01
  • PI
    Phenylbutyrate for STXBP1 Encephalopathy - A Pilot Study
    Orphan Disease Center at University of Pennsylvania · 2020–2022
    MDBR-20-137-STXBP1
  • PI
    A Learning Healthcare System for Pediatric Epilepsy
    Pediatric Epilepsy Research Foundation · 2017–2021
    PERF 17091353-1
  • PI
    Service Agreement: Pediatric Epilepsy Learning Health Systems Project
    Oregon Health & Science University · 2019–2021Contract
    SA 192844-01
  • Sub-PI
    Service Agreement with UVA under PERF grant "A Learning Healthcare System for Pediatric Epilepsy
    Pediatric Epilepsy Research Foundation · 2018–2021 · via University of VirginiaContract
    SA 184293-01
  • Sub-PI
    Service Agreement with Seattle Children's under PERF grant "A Learning Healthcare System for Pediatric Epilepsy
    Pediatric Epilepsy Research Foundation · 2018–2021 · via Seattle Children’s Hospital, Research and FoundationContract
    SA 184362-01
  • PI
    Pediatric Epilepsy Learning Healthcare Systems
    Cook Children's Health Care System · 2020–2021Contract
    DUA 202701-01
  • PI
    Service Agreement: Pediatric Epilepsy Learning Health Systems Project (Part II)
    Boston Children's Hospital (Children's Hospital Corporation) · 2019–2020Contract
    SA 200778-01
  • Sub-PI
    Service Agreement with UCSF under PERF grant "A Learning Healthcare System for Pediatric Epilepsy
    Pediatric Epilepsy Research Foundation · 2018–2019 · via University of Southern CaliforniaContract
    SA 184288-01
  • PI
    RENYC. Rare Epilepsies in New York City: Epidemiology and Health Outcomes
    Centers for Disease Control and Prevention · 2015–2019
    U01DP006089-03
  • Sub-PI
    Service Agreement with Epilepsy Foundation
    Epilepsy Foundation · 2018–2019 · via PCORIContract
    SA 190311-01
  • Sub-PI
    Spasm Prediction After SyMptomatic Neonatal Seizures: The SPASM Study
    Pediatric Epilepsy Research Foundation · 2017–2019 · via University of Michigan
    17-PAF05205
  • PI
    Common Data Elements for Pediatric Epilepsy A Foundation for Multicenter Research to Improve Clinical Care and Outcomes
    BAND Foundation · 2017–2019
    BAND 170460-01
  • Sub-PI
    Computable Phenotypes for SUDEP Risk: A Pilot Study at Two Centers
    Epilepsy Foundation · 2017–2018 · via Boston Children's Hospital (Children's Hospital Corporation)
    BCH 17081215-01
  • PI
    Comparative Effectiveness Research for Infantile Spasms
    Pediatric Epilepsy Research Foundation · 2016–2018
    PERF 183647-2

Clinical research

16 studies

Active

10 studies
  • PI
    An Open-Label, Single-Patient (N-of-1) Study to Evaluate the Safety and Efficacy of Intrathecally Administered VRI-1, an Individualized Antisense Oligonucleotide, in a Pediatric Patient with SYT1-Associated Neurodevelopmental Disorder
    Violet Research Institute · OPEN TO ACCRUAL (as of 2026)
  • PI
    Single Patient Evaluation with Intracerebral ventricular scAAV-9-CSA Gene therapy in a pediatric subject with Cockayne Syndrome due to mutations in the CSA/ERCC8 gene
    Riaan Research Initiative INC · OPEN TO ACCRUAL (as of 2026)
  • PI
    Reproductive and bone health counseling for adolescent women with epilepsy
    Weill Medical College of Cornell University · OPEN TO ACCRUAL (as of 2025)
  • PI
    Demographic, Clinical, and Laboratory Characteristics of Pediatric Antiphospholipid Antibody-positive Patients
    Weill Medical College of Cornell University · OPEN TO ACCRUAL (as of 2025)
  • PI
    MEF2C Haploinsufficiency Syndrome (MCHS) Natural History Study for Clinical Trial Readiness
    Weill Medical College of Cornell University · OPEN TO ACCRUAL (as of 2025)
  • PI
    A 20-Week Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial of EPX-100 (Clemizole Hydrochloride) as Adjunctive Therapy in Children and Adult Participants With Dravet Syndrome (ARGUS Trial)
    PHASE3 · Epygenix Therapeutics, Inc · OPEN TO ACCRUAL (as of 2024)
    Dravet Syndrome
    NCT04462770
  • PI
    Research Data Repository (RDR) for Pediatrics Department
    Weill Medical College of Cornell University · OPEN TO ACCRUAL (as of 2024)
  • PI
    STXBP1 and SYNGAP1 related disorders Natural History Study
    STXBP1 Foundation · OPEN TO ACCRUAL (as of 2024)
  • PI
    Creation and characterization of subcohorts in pediatric neurology using institutional datasets, traditional analytic tools, and large language models
    Weill Medical College of Cornell University · OPEN TO ACCRUAL (as of 2023)
  • PI
    NS PEACE Neonatal Exam
    Weill Medical College of Cornell University · OPEN TO ACCRUAL (as of 2023)
Completed & closed trials (6)
  • PI
    A Phase 1/2a, Open-Label, Multi-Center, Dose-Escalation Trial to Assess Safety, Tolerability, and Efficacy of a Single Dose of CAP-002 Gene Therapy Administered to Pediatric Patients With Syntaxin-Binding Protein 1 (STXBP1) Encephalopathy
    PHASE1; PHASE2 · Capsida Biotherapeutics, Inc. · IRB STUDY CLOSURE (as of 2026)
    Developmental and Epileptic Encephalopathy
    NCT06983158
  • PI
    SYNGAP1-Related Developmental and Epileptic Encephalopathy: Meaningful Clinical Outcomes and Development of a Disease Concept Model
    Weill Medical College of Cornell University · IRB STUDY CLOSURE (as of 2025)
  • PI
    n-of-1 study of an AAV9 Gene Therapy for Treatment of Severe Developmental and Epileptic Encephalopathy (DEE) due to a mutation in the Interferon Regulatory Factor 2 Binding Protein-Like (IRF2BPL) gene
    Weill Medical College of Cornell University · CLOSED TO ACCRUAL (as of 2025)
  • PI
    Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
    EARLY_PHASE1 · Weill Medical College of Cornell University · CLOSED TO ACCRUAL (as of 2025)
    STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental Disorder; Developmental and Epileptic Encephalopathy
    NCT04937062
  • PI
    A Multimodal Biomarker-based Predictive Model for Infantile Spasms
    Weill Medical College of Cornell University · IRB STUDY CLOSURE (as of 2024)
  • PI
    Copper Histidinate Treatment for Menkes Disease
    Weill Medical College of Cornell University · IRB STUDY CLOSURE (as of 2022)

News mentions

2 mentionsView all WCM news ↗

Media highlights

2 clips

Mentoring

17 menteesAll publications with mentees →

External relationships

Other

Capsida Biotherapeutics, Inc. · Jazz Pharmaceuticals · UCB BIOPHARMA SPRL