Natural History, Diagnosis, and Outcomes for Leukodystrophies

Leukodystrophy Clinical Trial

Official title:

Natural History, Diagnosis, and Outcomes for Leukodystrophies

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03639285
• Other study ID #: 00019596
• Status: Recruiting
• Start date: January 19, 2007
• Est. completion date: December 31, 2050

Study information

• Verified date: November 2023
• Source: University of Utah
• Contact: Josh Bonkowsky, MD, PhD
• Phone: 8012133599
• Email: joshua.bonkowsky[@]hsc.utah.edu
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

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

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..

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 600
• Est. completion date: December 31, 2050
• Est. primary completion date: December 31, 2033
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Leukodystrophy

Locations

Country	Name	City	State
United States	Primary Children's Hospital	Salt Lake City	Utah

Sponsors (1)

Lead Sponsor	Collaborator
University of Utah

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Morbidity	Determine rates of morbidity	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Secondary	Hospitalizations	Number of hospitalizations	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Secondary	MRI of the brain	Perform brain MRI to evaluate changes due to a leukodystrophy	Participants will be followed for the duration of the study (up to 20 years), with an MRI performed at presentation and then repeated on average once every 5 years
Secondary	Diagnosis	Using sequencing to establish a genetic diagnosis	Participants will be tested at presentation, and then re-tested for the duration of the study (up to 20 years), with re-testing on average of once per three years
Secondary	Response to bone marrow transplant	Evaluate neurological changes due to leukodystrophy and response following a bone marrow	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Secondary	Spasticity complications	Evaluate spasticity complications defined by the presence of increased tone (spasticity)	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Secondary	Respiratory complications	Evaluate respiratory complications defined by the need for supplemental oxygen	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Secondary	Hypotonia complications	Evaluate hypotonia complications defined by the presence of hypotonia	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Secondary	Bulbar complications	Evaluate bulbar complications defined by the presence of swallowing difficulties	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Secondary	Cerebellar complications	Evaluate cerebellar complications defined by the presence of ataxia or coordination problems	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Secondary	Language complications	Evaluate language complications defined by language impairment below age norms	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year