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Natural History, Diagnosis, and Outcomes for Leukodystrophies

NCT ID: NCT03639285

Last Updated: 2024-12-17

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

600 participants

Study Classification

OBSERVATIONAL

Study Start Date

2007-01-19

Study Completion Date

2050-12-31

Brief Summary

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

Detailed Description

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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..

Conditions

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Leukodystrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University of Utah

OTHER

Sponsor Role lead

Responsible Party

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Josh Bonkowsky

Professor, Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Primary Children's Hospital

Salt Lake City, Utah, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Josh Bonkowsky, MD, PhD

Role: CONTACT

Phone: 8012133599

Email: [email protected]

Courtney Chambers

Role: CONTACT

Phone: 8012133599

Facility Contacts

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Josh Bonkowsky, MD, PhD

Role: primary

Other Identifiers

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00019596

Identifier Type: -

Identifier Source: org_study_id