Abstract Details

Title Development of a Clinical Tool to Aid in the Diagnosis of Duchenne Muscular Dystrophy

Topic Child Neurology and Developmental Neurology

Presentation(s) P7 - Poster Session 7 (5:00 PM-6:00 PM)

Poster/Presentation
Number 6-010

Objective To improve time to diagnosis in Duchenne muscular dystrophy (DMD).

Background DMD is the most common childhood onset muscular dystrophy. Signs and symptoms of muscle weakness are always present before age 5; yet the average age of diagnosis in the US is 5 years. Muscle degeneration begins prior to birth and serum CK is elevated at birth. Cognitive and behavioral co-morbidities occur in ~1/3 of children with DMD. Early initiation of multidisciplinary standard of care, corticosteroids, and recently approved gene-based therapies can have a profound impact on delaying loss of ambulation, improving quality of life and survival.

Design/Methods A group of expert clinicians convened to develop an easy to administer tool to facilitate earlier diagnosis of DMD. The goal was to develop a set of simple screening questions and exam findings that would be high yield in identifying children at high risk for DMD. This tool should be employed at the 30 month well child visit and should not add significant time to the visit.

Results There are 3 clinical yes/no questions (did your child have difficulty walking at 24 months?, does your child have difficulty running?, and does your child have difficulty climbing stairs?) and 2 clinical observations (is there difficulty rising from the floor and are the calves enlarged?).

Conclusions Any positive response or abnormal clinical observation should result in a creatine kinase level being ordered. If the CK level is elevated, additional diagnostic testing will be pursued. Earlier diagnosis will result in earlier initiation of treatments designed to prolong muscle function and interventions to reduce cognitive and behavioral co-morbidities. Implementation of this simple tool may lead to significantly earlier screening with CK, diagnosis confirmation by genetic testing, and improved outcomes in DMD. This tool will be implemented in a general pediatrics clinic in late 2024.

Authors/Disclosures
Megan A. Waldrop, MD (Nationwide Children's Hospital) PRESENTER	Dr. Waldrop has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Sarepta Therapeutics. Dr. Waldrop has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis Gene Therapies.
Emma Ciafaloni, MD, FAAN (University of Rochester Medical Center)	Dr. Ciafaloni has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Argenx, Alexion, Sarepta, UCB, Hoffman-LaRoche, Biogen. Dr. Ciafaloni has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis, AnnJi Pharmaceutical, ML-BIO, Avidity. The institution of Dr. Ciafaloni has received research support from CDC, CureSMA, FDA, Orphazyme, Sarepta, PCORI, Neurogene. Dr. Ciafaloni has received publishing royalties from a publication relating to health care.
Joseph F. Hagan, MD	Dr. hagan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for sarepta.
Madhuri Hegde, PhD	Dr. Hegde has nothing to disclose.
Paul H. Lipkin, MD	Dr. Lipkin has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta Inc.. Dr. Lipkin has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier. The institution of Dr. Lipkin has received research support from PCORI.
Ann S. Martin, MS, CGC	Ms. Martin has received personal compensation for serving as an employee of Parent Project Muscular Dystrophy. Ms. Martin has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta Therapeutics.
Eric C. Strong, MD (Geisinger Medical Center)	Dr. Strong has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta.

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