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Abstract Details

A Practical Approach to Longitudinal Neurological Care of Adults With X-linked Adrenoleukodystrophy and Adrenomyeloneuropathy (X-ALD/AMN)
Multiple Sclerosis
P17 - Poster Session 17 (11:45 AM-12:45 PM)
12-009

Establish guidelines for longitudinal management of adults with X-linked adrenoleukodystrophy and adrenomyeloneuropathy (X-ALD/AMN).

Though X-ALD has historically been considered a childhood disease managed by pediatric neurologists, it is the most common leukodystrophy diagnosed in adulthood. Growing numbers of both male and female adult patients are reaching diagnosis due to increased inclusion on state newborn screening panels and more widespread use of genetic testing.
Review of literature and clinical experience in an adult Undiagnosed White Matter Disorders Neurogenetics clinic at the University of Pennsylvania.
Adults with X-ALD/AMN may reach diagnosis after a child in the family is identified via newborn screen, by genetic testing for evaluation of progressive spastic paraplegia, or via referral from an endocrinologist due to primary adrenal insufficiency. Significant provider-, patient-, and systems-based barriers prevent adult patients with X-ALD/AMN from receiving appropriate care, including a lack of awareness of the importance of longitudinal neurologic management. Confirmation of and education about the diagnosis should be coordinated in conjunction with a genetic counselor. Routine surveillance for adrenal insufficiency and onset of cerebral ALD should be performed systematically to avoid preventable morbidity and mortality. After diagnosis, patients should be connected to the strong support networks, foundations, and research organizations available for X-ALD/AMN. Core symptomatic management principals mimic those already familiar to providers caring for patients with other etiologies of progressive spastic paraplegia. Appropriate patient candidates for hematopoietic stem cell transplant and other investigational disease modifying strategies require early identification to achieve optimal outcomes.
All patients with X-ALD/AMN, regardless of sex, age, or symptom severity would benefit from a multidisciplinary approach to longitudinal care spearheaded by the neurologist. We propose strategies for lab and imaging surveillance, symptom management, and identification of appropriate candidates for hematopoietic stem cell transplant or investigational treatments in adults with X-ALD/AMN.
Authors/Disclosures
Alexandra B. Kornbluh, MD (Children's National Hospital)
PRESENTER 		Dr. Kornbluh has nothing to disclose.
Jennifer L. Orthmann Murphy, MD, PhD (Hospital of the University of Pennsylvania) Dr. Orthmann Murphy has received personal compensation in the range of $0-$499 for serving as a Consultant for Vigil Neuroscience. Dr. Orthmann Murphy has received personal compensation in the range of $0-$499 for serving as a Consultant for NovoGlia. The institution of Dr. Orthmann Murphy has received research support from Vigil Neurosciences. The institution of Dr. Orthmann Murphy has received research support from National MS Society. The institution of Dr. Orthmann Murphy has received research support from Fishman Family Foundation. The institution of Dr. Orthmann Murphy has received research support from Global Leukodystrophy Initiative Clinical Trial Network. The institution of Dr. Orthmann Murphy has received research support from NINDS. The institution of Dr. Orthmann Murphy has received research support from Montague Investigator Award. Dr. Orthmann Murphy has received personal compensation in the range of $500-$4,999 for serving as a Developing CME content on Neurogenetics with American Neurological Association. Dr. Orthmann Murphy has received personal compensation in the range of $500-$4,999 for serving as a Faculty, Honoraria with CMSC.