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Clinical Outcome Assessments in Congenital Myotonic Dystrophy

Award Number: K23NS144702
ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP
PERIOD OF PERFORMANCE START DATE: 08/15/2026
PERIOD OF PERFORMANCE END DATE: 07/31/2031

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Clinical Outcome Assessments in Congenital Myotonic Dystrophy - Project Abstract Myotonic dystrophy type 1 (DM1) is a hereditary disorder characterized by progressive impairments in motor, cognitive, and cardiac function. The most severe phenotype, congenital myotonic dystrophy (CDM), presents with severe weakness at birth, respiratory failure requiring ventilatory support, and feeding difficulties. Children with CDM who survive the initial period of critical illness demonstrate spontaneous improvement in motor and cognitive function through early childhood, followed by functional declines during adolescence and into adulthood. Recent therapeutic trials targeting the common disease mechanism in myotonic dystrophy have shown improvements in strength and function in adults with DM1. However, the lack of clinical outcome measures that are responsive to intervention effects is a barrier to the implementation of therapeutic trials for children with CDM. There are two major gaps in our ability to measure change in motor function in CDM: 1) a clinical observation-based measure of motor function for non-ambulatory children under 6 years of age, and 2) an objective measure of community-level motor function. As of October 2025, children under 6 years of age are excluded from the only active therapeutic trial for children with CDM (NCT05004129). This is likely due to the lack of valid, responsive outcome measures in this age range, as previous studies have shown that norm- referenced developmental motor assessments are limited by floor effects in non-ambulatory children with CDM and do not capture important early-stage motor behaviors. A second concern is that community-level motor function may not be adequately reflected by in-clinic observations, where cognitive impairment, environmental unfamiliarity/stress, and travel fatigue contribute to variability in performance. To improve our ability to detect treatment response in children with CDM, we will 1) validate the Gross Motor Function Measure, an internationally-recognized test designed to assess a wide range of foundational gross motor skills in children with cerebral palsy, to assess motor function of ambulatory and non-ambulatory children (1-18 years) with CDM, and 2) validate a wearable actigraphy-based measure of community-level ambulatory function in children with CDM. We will leverage the resources within the international 22-site Myotonic Dystrophy Clinical Research Network (DMCRN) to achieve these aims. The long-term goal of this research is to develop clinical endpoints and models of disease progression to support therapeutic trials in children with CDM. I have a dedicated mentorship team with expertise in neuromuscular diseases, clinical outcome assessment development, and wearable instrumentation for gait and motion analysis. Through this project and career development plan, my goal is to launch my career as an independent clinician-scientist focused on the development of clinical endpoints and models of disease progression that will support therapeutic trials in progressive neuromuscular disorders.


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 = $173,335 )
2026	2026	VIRGINIA COMMONWEALTH UNIVERSITY	910 WEST FRANKLIN ST	RICHMOND	VA	23284	RICHMOND CITY	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	8/7/2026	NEW	$173,335
														Subtotal = $173,335

Grand Total All Awards = $173,335

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Clinical Outcome Assessments in Congenital Myotonic Dystrophy

Award Number: K23NS144702

ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP

PERIOD OF PERFORMANCE START DATE: 08/15/2026

PERIOD OF PERFORMANCE END DATE: 07/31/2031

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