LeukodystrophyNCT03639285
Natural History, Diagnosis, and Outcomes for Leukodystrophies
An observational study of Leukodystrophy, run by University of Utah at 1 site in United States.
Trial summary
The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Leukodystrophy
- How many people
- 600 participants
- Where
- 1 siteUnited States
- Study dates
- 19 Jan 2007to 31 Dec 2050
- How long will I take part?
- 20 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Any person with an apparent inherited disease of white matter (except as excluded by the exclusion criteria).
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Courtney Chambers contact
United States1 site, 1 recruiting
- Recruiting
Primary Children's Hospital
Salt Lake City, Utah, 84113
Josh Bonkowsky, MD, PhD, 8012133599, joshua.bonkowsky@hsc.utah.edu
About this study
The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.
Read the detailed 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..
- Conditions
- Leukodystrophy
What is being measured
The primary outcome is the main question the study is designed to answer.
Morbidity
Determine rates of morbidity
Measured: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Secondary outcomes (10)
Hospitalizations
Number of hospitalizations
Measured: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
MRI of the brain
Perform brain MRI to evaluate changes due to a leukodystrophy
Measured: 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
Diagnosis
Using sequencing to establish a genetic diagnosis
Measured: 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
Response to bone marrow transplant
Evaluate neurological changes due to leukodystrophy and response following a bone marrow
Measured: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Spasticity complications
Evaluate spasticity complications defined by the presence of increased tone (spasticity)
Measured: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Respiratory complications
Evaluate respiratory complications defined by the need for supplemental oxygen
Measured: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Hypotonia complications
Evaluate hypotonia complications defined by the presence of hypotonia
Measured: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Bulbar complications
Evaluate bulbar complications defined by the presence of swallowing difficulties
Measured: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Cerebellar complications
Evaluate cerebellar complications defined by the presence of ataxia or coordination problems
Measured: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Language complications
Evaluate language complications defined by language impairment below age norms
Measured: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Aug 2018
- Study start19 Jan 2007
- Primary completion31 Dec 2033 (estimated)
- Study completion31 Dec 2050 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for LeukodystrophyStudies of the same condition, open and under way.
- More trials run by University of UtahThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 600 participants (estimated)
- Target duration
- 20 Years
Sponsor and investigators
- Lead sponsor
- University of Utah
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Josh Bonkowsky, University of Utah
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03639285
- Sponsor's protocol ID
- 00019596
- Status last verified
- Jan 2026
- First submitted
- 28 Jul 2018
- Last updated
- 13 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History, Diagnosis, and Outcomes for Leukodystrophies
- ClinicalTrials.gov ID
- NCT03639285
- Acronym / sponsor ID
- 00019596
- Conditions
- Leukodystrophy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- University of UtahUniversity, hospital or other
- Study start
- 19 Jan 2007 (actual)
- Primary completion
- 31 Dec 2033 (estimated)
- Study completion
- 31 Dec 2050 (estimated)
- First posted
- 21 Aug 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.
Detailed 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..
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 20 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Any person with an apparent inherited disease of white matter (except as excluded by the exclusion criteria).
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Morbidity
Time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Determine rates of morbidity
10 secondary outcomes
Hospitalizations
Time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
MRI of the brain
Time frame: 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
Diagnosis
Time frame: 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
Response to bone marrow transplant
Time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Spasticity complications
Time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Respiratory complications
Time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Hypotonia complications
Time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Bulbar complications
Time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Cerebellar complications
Time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Language complications
Time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Jan 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Courtney Chambers contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Leukodystrophy, run by University of Utah at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Josh Bonkowsky, MD, PhD (8012133599, joshua.bonkowsky@hsc.utah.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Morbidity (time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Jan 2026; AzTrials last refreshed its copy on 7 Nov 2026.