Grand Rounds: Recent Advances in the Diagnosis and Treatment of Pediatric Leukodystrophies

Objectives (Educational Content) :

1. Identify the most common leukodystrophies encountered in childhood and those that are currently on the Ohio newborn screen or are anticipated to be added to the newborn screen in the near future. 2. Explain how cell-based therapies such as ex vivo gene transfer therapy and hematopoietic stem cell transplantation are used to treat leukodystrophies. 3. Summarize current strategies for advanced therapeutics for leukodystrophies including in vivo gene replacement therapy and small molecule therapies.

Target Audience:

General pediatricians, family physicians, nurse practitioners, physician assistants, social workers, psychologists, and nurses.

Identified Gap:

Clinicians may have limited familiarity with the evolving landscape of pediatric leukodystrophies, including those identified through newborn screening and the latest therapeutic innovations. Gaps in knowledge regarding the application of cell-based and gene therapies, as well as emerging small molecule treatments, can hinder timely diagnosis and optimal care.

Estimated Time to Complete the Educational Activity:

1 hour(s)

Expiration Date for CE/CME Credit:

07-24-2026

Method of Participation in the Learning Process:

The learner will view the presentation, successfully complete a post-test and complete an activity evaluation.

Evaluation Methods:

All learners must successfully complete a post-test, as well as an activity evaluation, to claim CE/CME credit.

Disclosure:

The following presenter have identified that they have financial relationships with these ineligible companies: Catalyst and UCB, Matthew Ginsberg, MD, MBA The following CME Committee/Planning Committee member(s) has the following financial relationships with ineligible companies to disclose: Merck Maria Cristina Victorio, MD; Moderna, Pfizer; and Merck; Shefali Mahesh, MD All financial relationships have been mitigated. The remaining planning committee/CME committee members have indicated that they have no financial relationships with any ineligible companies.

Accreditation Statement:

Akron Children’s Hospital is accredited by the Ohio State Medical Association to provide continuing medical education for physicians.

Akron Children’s Hospital designates this enduring material activity for a maximum of 1.0 AMA PRA Category 1 Credit TM. Physicians should only claim the credit commensurate with the extent of their participation in the activity.

Bibliography:

1. Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ; LeukoSEQ Workgroup. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. 2020 Aug;88(2):264-273. doi: 10.1002/ana.25757. Epub 2020 Jun 9. PMID: 32342562; PMCID: PMC8061316.

2. Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R. The burden of inherited leukodystrophies in children. Neurology. 2010 Aug 24;75(8):718-25. doi: 10.1212/WNL.0b013e3181eee46b. Epub 2010 Jul 21. PMID: 20660364; PMCID: PMC2931652.

3. Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, Wenger DA, Pietryga D, Wall D, Champagne M, Morse R, Krivit W, Kurtzberg J. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med. 2005 May 19;352(20):2069-81. doi: 10.1056/NEJMoa042604. PMID: 15901860.