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Quantitative Gait Metrics to Assess and Predict Gross Motor Impairment in Young Children with Neurofibromatosis Type 1

Award Number: K23NS146694
ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP
PERIOD OF PERFORMANCE START DATE: 02/01/2026
PERIOD OF PERFORMANCE END DATE: 01/31/2031

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Quantitative Gait Metrics to Assess and Predict Gross Motor Impairment in Young Children with Neurofibromatosis Type 1 - Project Summary/Abstract Most children with neurofibromatosis type 1 (NF1), one of the most common inherited neurological disorders in the United States, experience difficulties with large muscle movements. Current methods of measuring gross motor impairment in young children with NF1 are time- and resource-intensive, reliant on coarse scoring from a proxy typically based on the presence or absence of abilities without regard to the quality of function. These limitations hamper counseling in the clinic on the severity of gross motor difficulties, prediction of future function, and guidance on treatment planning. The objective of this K23 proposal is to develop office-based tools to quantify gait in young children with NF1 that reflect overall gross motor impairment and predict future gross motor difficulties. In this prospective observational study of ambulatory children less than six years old with NF1, we will evaluate gait speed as the fastest time to walk 10 meters and interlimb coordination derived from artificial intelligence-based pose estimates from video. We will conduct office-based gait assessments with video, clinical exams, and neurodevelopmental evaluations during routine medical visits at baseline, 12 months, and 24 months at one of the largest NF1 centers in the U.S., the NYU Comprehensive Neurofibromatosis Center. Using this design, our specific aims are to: (1) evaluate how well gait speed and interlimb coordination reflect gross motor impairment compared to currently available neurodevelopmental assessments; (2) determine the test-retest reliability of gait speed and interlimb coordination; and (3) investigate the prognostic ability of gait speed and interlimb coordination to predict gross motor impairment up to two years later. We expect these findings will result in improved developmental surveillance in clinic and inform clinical trial design with the addition of performance-based endpoints. This proposal aligns with the NINDS strategic plan of “seeing more precisely – develop and validate biomarkers and outcome measures that stimulate therapy development and improve patient care.” During this five-year award, Dr. Abreu will complete the following training goals: (1) gain fluency in advanced statistical methodologies for outcome measure development and predictive analyses; (2) deepen knowledge of clinical gait analysis; and (3) grow his skillset in pediatric NF1 clinical trial readiness. Dr. Abreu is ideally positioned to accomplish this work based upon his unique background and a stellar mentorship team, including primary mentor, Dr. Heidi Schambra (leader in quantitative motor assessment in neurological disorders), and co-mentors, Drs. Kaleb Yohay (leader in NF1) and Moriah Thomason (leader in early childhood neurodevelopment). His training program will be enriched by a scientific advisory committee with complementary expertise. This K23 award will advance Dr. Abreu towards his goal of becoming an independent physician-scientist studying quantitative motor assessment in NF1 and other pediatric neurogenetic disorders, including an R01-level submission treating gross motor impairment in early NF1.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $247,995 )
2026	2026	NEW YORK UNIVERSITY	550 1ST AVE	NEW YORK	NY	10016	NEW YORK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	1/23/2026	NEW	$247,995
														Subtotal = $247,995

Grand Total All Awards = $247,995

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Quantitative Gait Metrics to Assess and Predict Gross Motor Impairment in Young Children with Neurofibromatosis Type 1

Award Number: K23NS146694

ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP

PERIOD OF PERFORMANCE START DATE: 02/01/2026

PERIOD OF PERFORMANCE END DATE: 01/31/2031

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