Natural History, Diagnosis, and Outcomes for Leukodystrophies

Utah System of Higher Education (USHE)

Status: Enrolling

Conditions: Leukodystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT03639285

00019596

Details and patient eligibility

About

The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.

Full description

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..

Enrollment: 600 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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.