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.