Natural History, Diagnosis, and Outcomes for Leukodystrophies

Inherited leukodystrophies affect close to 1 in 7500 children with mortality greater than 30%. Affected patients face additional serious medical complications including epilepsy, developmental regression, and intellectual disabilities. Diagnosis is difficult and requires the assistance of a specialist. Finally, identifying treatments and improving outcomes is complex.

The Western Leukodystrophy Project, which is part of the University of Utah and of Primary Children's Hospital, and which is a certified Leukodystrophy Care Network Center, provides a specialized resource for patients with leukodystrophies.

This clinical study assists with diagnosis of leukodystrophies; suggesting treatment options and implementing care guidelines, and improving outcomes for all patients by understanding the clinical histories and outcomes of affected patients..

Inclusion criteria

• evidence by clinical exam, radiological findings, and/or testing, of an inherited leukodystrophy.
• be able to travel to the leukodystrophy clinic (at Primary Children's Hospital, Salt Lake City, Utah);
• be able to tolerate a general physical exam, and a neurological exam.

Exclusion criteria

• unable to be evaluated at the University of Utah Hospital or Primary Children's Hospital;
• refusal to sign study consent form;
• evidence or finding of another non-genetic cause of their condition;
• Persons with known white matter disease or lesions related to: birth injury or prenatal injury, multiple sclerosis, trauma, infection, immunization, or post-infectious effects (e.g. ADEM- acute disseminated encephalomyelitis), metabolic disturbance (e.g. Central pontine myelinolysis), neoplasms, primary rheumatologic diseases (e.g. Systemic lupus erythematosis), stroke, hypoxic-ischemic injury, drug or toxin effect, seizures, or endocrine disturbance.