Adeline L. Vanderver, MD, director of Children’s National Health System’s Myelin Disorders Clinic has become one of the leaders in an international effort to bring attention to leukodystrophies, a group of diseases that have a high mortality rate among children, with an incidence more common than some widely known disorders..
Leukodystrophies are rare diseases that affect the cells of the brain and the material that surrounds and protects nerve cells, the myelin sheath. Damage to the sheath slows down or blocks messages between the brain and the rest of the body that can impact movement, speaking, vision, hearing, and mental and physical development of the patient. The Myelin Disorders Clinic at Children’s National provides comprehensive clinical and research services in the study of inherited myelin disorders.
“A family who receives a diagnosis of a leukodystrophy (LD) is isolated by lack of knowledge. They don’t know what they are up against; but just as important, their communities cannot understand the health challenges they will face. They get no support and no recognition,” says Dr. Vanderver, neurologist at Center for Genetic Medicine Research at Children’s Research Institute and Division of Neurology at Children’s National.
Some white matter disorders may be acquired, while others, called leukodystrophies, are genetic. The genetic side of the disease was illustrated in a 1992 film, Lorenzo’s Oil, based on the true story of parents in their relentless search for a cure for their son Lorenzo’s adrenoleukodystrophy, and an October 2013 documentary, Cracking the Code on Australian Story. Most children affected with LD experience their condition prior to their third birthday and nearly one-third of these children will never reach their eighth birthday. While the diseases are termed rare, their incidence is relatively high, about one in 7,000 births.
Dr. Vanderver says increased advocacy is needed to help parents and families of children who suffer from the leukodystrophies. Various consortia have been established to help, such as the Myelin Disorders Bioregistry Project (MDBP), an international network that includes highly active clinical centers in the U.S. and elsewhere. A broader network, Global Leukodystrophy, also was established to accelerate the discovery of novel variations responsible for pediatric white matter disorders and to translate the findings into clinical treatments.
Children’s National has maintained a registry of at least 1,000 families of children with these disorders, Dr. Vanderver says. With the registry, “we are using sophisticated technologies that have resulted in helping us identify new genetic conditions,” Dr. Vanderver says.
Although there are more than 30 recognized leukodystrophies, there have been few concerted efforts to dissect genetic heterogeneity and develop targeted therapeutics for this group of disorders, Dr. Vanderver says. There are currently a limited number of clinical sites with expertise in diagnosis and management of patients with leukodystrophies.
“It’s a very difficult situation to be in,” Dr. Vanderver says of parents and family of children with leukodystrophies. “You need as much community support as someone who has leukemia; you need that kind of outpouring and love. Most people haven’t heard the word (about the diseases), and that has to change,” Dr. Vanderver says. “Until there is that change, they aren’t going to get the help and support they need.”
“With advances in molecular biology, we are poised to develop new treatments for most of the known leukodystrophies,” Dr. Vanderver says. “However, a significant knowledge gap regarding the natural history of leukodystrophies exists. This is the single greatest impediment to conducting clinical trials in the field.”
Contact: Emily Hartman or Joe Cantlupe at 202-476-4500.