Research

Current Myelin Disorders Related Research
Adeline Vanderver, MD, is an internationally renowned researcher on leukodystrophies and genetic leukoencephalopathies and director of the Myelin Disorders Program. Her program applies a “bench-to-bedside” approach and makes cutting-edge treatments available to patients. Among her accomplishments, Dr. Vanderver identified the genetic cause of several novel leukodystrophies, including 4H syndrome, H-ABC and HBSL and leads the largest leukodystrophy consortium, the Global Leukodystrophy Initiative (www.theglia.org). She also is working on therapeutic protocols to optimize patient care and is focused on developing clinical trials in AGS, H-ABC, and HBSL.

For more information about the Myelin Disorders Program, current studies, or research programs, please contact Adeline Vanderver, MD, (PI) at avanderv@childrensnational.org or myelindisorders@childrensnational.org.

4H Syndrome Research

4H Syndrome Research

Join Children’s National Health System and Hypomyelination with Hypodontia and Hypogonadotropic Hypogonadism Syndrome (4H) families in supporting 4H children everywhere. The Children’s National team is working to better understand how 4H syndrome affects the brain.

Donate to 4H Syndrome Research

Aicardi-Goutières Syndrome (AGS)

Aicardi-Goutières Syndrome (AGS)

Aicardi-Goutières Syndrome (AGS) is an inherited brain disease that affects newborn infants and usually results in severe mental and physical handicap. The Myelin Disorders Bioregistry Project (MDBP) at Children’s is an international leader in focusing on AGS. The project, funded through a grant from the Parson Family Foundation and in partnership with pharmaceutical firms and foundations, is involved in clinical trials and natural history that examine therapies, genetic issues, symptoms of the disease, and immune responses to develop screening for AGS in newborns.

Donate to support AGS research

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is an extremely rare leukoencephalopathy, and is characterized by slowly progressive spasticity, and other ailments, such as moderate to severe cognitive deficits. At Children’s National, Dr. Vanderver and her team are making rapid progress in research related to a mutation, or alternation in a DNA sequence, related to the disease, known as TUBB4A. Children’s National is involved in partnerships related to TUBB4A to examine variations and subsets of the TUBB4A mutations to further explore the disease impacts, along with new technological advances. As part of its innovative work, Children’s National is also is developing a three institutional, international collaboration for research on this issue with the University of Pittsburgh and Vrije University Medical Center in Amsterdam, The Netherlands.

Donate to the H-ABC research

Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity (HBSL)

Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity (HBSL)

Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity (HBSL), a form of leukoencephalopathy, is a genetic mutation that impacts the lower limbs in the first year of life with severe spasticity resulting in an inability to walk. The Children’s Myelin Disorders Bioregistry Project (MDBP) has been investigating a spectrum of disorders involving mutations of the tRNA sythetase gene, which is a messenger for making protein, including HBSL. As part of its work, it is exploring molecular and protein issues related to the disease. In addition, Children’s National is involved in an international collaboration supported by the Mission Massimo Foundation, which is developing research cellular and animal models from patient tissue.

The Global Leukodystrophy InitiAtive (GLIA)

The Global Leukodystrophy InitiAtive (GLIA)

The team and program at Children’s National are important components of the Global Leukodystrophy Initiative (GLIA), a global consortium uniting clinicians, researchers, and patient advocacy groups to advance care and research priorities for leukodystrophy patients. This consortium has published a series of consensus papers concerning the definition of leukodystrophies and genetic leukoencephalopathies, diagnosis, care, and therapies for leukodystrophy patients.

Their mission extends to advancing newborn screening and diagnostic platforms in leukodystrophies, establishing natural history studies to inform standards of care and clinical trial design, and increase the rate of development of therapeutic approaches.

The Myelin Disorders Bioregistry Project (MDBP)

The Myelin Disorders Bioregistry Project (MDBP)

For over a decade, Children’s National has been home to the Myelin Disorders Bioregistry Project (MDBP), a study designed to better characterize patients with leukodystrophies from a clinical, molecular, and biochemical standpoint in order to establish new tests for use in diagnosing leukodystrophies.

Unsolved Leukodystrophies

Unsolved Leukodystrophies

Many patients affected with leukodystrophy never achieve a specific diagnosis, which impacts understanding how the disease will progress, predicting symptoms, and family planning. Dr. Vanderver’s group is committed to decreasing the rate of unsolved leukodystrophies from over half to less than 10%. To this end, she has started a clinical trial to test the effectiveness of powerful genetic techniques called next generation sequencing, in leukodystrophy patients.