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White Matter Disease Program


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The White Matter Disease Program at Children's National Medical Center provides comprehensive services in more than 500 visits with patients each year.

White matter or myelin disorders affect the myelin sheath, the white fatty layer that covers nerve cells. Some diseases, such as Multiple Sclerosis (MS) or Acute Disseminated Encephalomyelitis (ADEM), may be acquired, while others, called ”leukodystrophies” or sometimes “leukoencephalopathies” are genetic.

Identifying the cause and type of disease is challenging, and patients benefit from Children’s multidisciplinary approach to diagnosis and treatment of these complex disorders. Integrated care provided by our team of specialists ensures that your child receives the most appropriate treatment.

Conditions We Care For
Children with the following disorders are seen by the program’s care team:
Acquired White Matter Diseases
• Acute disseminated encephalomyelitis (ADEM)
• Devic’s Neuromyelitis Optica (NMO)
• Multiple Sclerosis (MS)
• Transverse Myelitis
• Encephalopathies of presumed autoimmune cause but without a definitive diagnosis
• Leukodystrophies/ Leukoencaphalopathies4H syndrome
• 18q minus syndrome
• X-linked Adrenoleukodystrophy
• Aicardi-Goutères syndrome
• Alexander disease
• Autosomal Dominant Leukodystrophy with Autonomic disease (ADLD)
• Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
• Canavan disease
• Cerebrotendinous Xanthomatosis
• eIF2B related disorders (Vanishing White Matter disease or CACH)
• Fucosidosis
• Krabbe disease
• Hypomyelination with atrophy of the basal ganglia and cerebellum (HABC)
• Hypomyelination with congenital cataracts (HCC)


• L2-hydroxyglutaric aciduria
• Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
• Megalencephalic leukodystrophy with subcortical cysts (MLC)
• Metachromatic leukodystrophy
• Oculodentodigital dysplasia
• Pelizeaus Merzbacher/Pelizeaus Merzbacher-like disease
• Peroxisome biogenesis disorders
• Polygluosan Body Disease (PGBD)
• RNAse T2 deficient leukoencephalopathy
• Sialic acid storage disorders
• Peroxisomal fatty acid beta oxidation enzyme deficiencies
• Sjögren Larsen syndrome
• SOX10-associated disorders
• Inborn errors of metabolism
• Vascular Diseases
• Mitochondrial and energy metabolism disorders
• Other disorders involving the white matter with known or unknown genetic causes

Your Child’s Care Team
The program’s providers include specialists in: To ensure all patient and family needs are met, the program also provides family and patient support with the assistance of a social worker, genetic counselor, and through collaboration with support and advocacy groups.

Our team is committed to providing the best in compassionate clinical care, and though an active research program is working to improve diagnosis, treatment, and outcomes for patients. Adeline Vanderver, MD, is an internationally renowned researcher on leukodystrophies and genetic leukoencephalopathies and directs the White Matter Disease Program. Her program applies a “bench-to-bedside” approach and makes cutting-edge treatments available to patients.

Among her accomplishments, Dr. Vanderver identified a novel biomarker that shortens the time to diagnose Vanishing White Matter disease (a type of leukodystrophy) from months to 48 hours. She also is working on therapeutic protocols to optimize patient care.

Current White Matter Disease Related Research
For more information on this research , please contact Dr. Adeline Vanderver at avanderv@childrensnationa.org

New Diagnostic Approaches in Leukodystrophy

www.myelindisorders.org
Leukodystrophies have many causes, some known and some unknown. Many patients have rare forms of leukodystrophy for which no diagnostic test exists. The purpose of this study is to better characterize patients with leukodystrophies from a clinical, molecular, and biochemical standpoint in order to establish new tests for use in diagnosing leukodystrophies. Participation in this study involves a physical examination, which, when possible will be conducted at Children’s National Medical Center by the study Principal Investigator. When travel is not possible, it may be possible for the participant’s local neurologist to collect key clinical data. In addition, this study requests that excess samples be collected for this research study when diagnostic testing is being completed. Excess samples requested include: blood samples, urine samples, skin samples (when skin biopsy is being performed for clinical purposes), CSF (when spinal tap is being performed for clinical purposes). In order to evaluate eligibility, interested participants are asked to submit MRI images (CD or film) as well as clinical information and sign a consent form.

Cerebrospinal Fluid Asialotransferrin in Vanishing White Matter Disease Protocol
We have identified a protein which is present in smaller quantities in the CSF (cerebrospinal fluid) of patients with Vanishing White Matter (VWM) disease compared to healthy children and children with other leukodystrophies. We would like to continue to study this test in children with (or suspected to have) VWM disease and those without to determine the sensitivity and specificity of this test. CSF results are rapid (usually 2-3 weeks) relative to the much longer time required for sequencing of the eIF2B genes. In order to participate in this study participants must sign consent, submit an MRI (either on CD or film) and their physician must complete our clinical information form. No samples will be included without receipt of these materials. Results of both the CSF and genetic testing will be reported back to the referring physician. Currently we are CLIA and New York State approved to perform sequencing for the eIF2B1-5 genes in our laboratory.

Neuroimmunology Program
This program aims to better understand how the immune system can play a role in brain diseases. Patients may have an identified neuroimmune disorder, or may have an undiagnosed but possibly acquired immune disorder that affects the brain . In some cases, these patients may be able to undergo treatment that helps improve the interaction between their immune system and their nervous system. Patients will also be offered participation in a biorepository to collect excess clinical samples for research purposes to try to better understand underlying causes of neuroimmune disorders.

To learn more about this research, speak with a member of your child’s care team or email Dr. Vanderver at avanderv@childrensnational.org.


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