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Nicolas Abreu

Associate Director, Neurogenetics · NYU Grossman School of Medicine

Credentials: · · · · ·

History

Lysosomal Storage Disease Program · NYU Grossman School of Medicine
Present
Lysosomal Storage Disease Program · Nationwide Children's Hospital
Present
NYU Grossman School of Medicine
Present

Nationwide Children's Hospital
2020–2021
Child Neurology
2015–2020
Neurodevelopmental Disabilities
Boston Children's Hospital
2015–2019
Harvard Medical School
2009–2013

Research

Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy
Review · Pediatric Pulmonology · 2021 · First of 2 authors · 36 citations
Large Retroperitoneal Liposarcoma Diagnosed upon Radiological Evaluation of Mild Right-Sided Inguinal Hernia
Case report · Case Reports in Radiology · 2013 · 9 citations
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency
Genetics in Medicine · 2024 · 8 citations

Emily Reyes
3 papers
Ilya Kister
3 papers
Janet Rucker
3 papers
Scott Grossman
3 papers
Steven Galetta
3 papers
Andrew Dugue
2 papers · 1 as a fellow
Elizabeth Berry-Kravis
2 papers
John Pappas
2 papers
Kevin Flanigan
2 papers
Kristen Truxal
2 papers
Kurenai Tanji
2 papers
Mai-Lan Ho
2 papers

Grants

Quantitative Gait Metrics to Assess and Predict Gross Motor Impairment in Young Children with Neurofibromatosis Type 1
National Institute of Neurological Disorders and Stroke · K23
Contact PI · $248K · New York University School of Medicine
2026–2031

Clinical trials

Gait in Young Children With NF1
Principal investigator · Not yet recruiting
NYU Langone Health
2026–2031
A Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late-Onset Pompe Disease (PROGRESS-GT LOPD)
Site PI · Recruiting · Phase 1, Phase 2
AskBio Inc
2026–2032
Early Access Program With Arimoclomol in US Patients With NPC
Site PI · Available
ZevraDenmark