LeukodystrophiesNCT02843555
Natural History of the Leukodystrophies
An observational study of Leukodystrophies, run by Baylor Research Institute at 1 site in United States.
Trial summary
The purpose of this study is to: 1. define novel homogeneous groups of patients with LDs and 2. work toward finding the cause of these disorders. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Leukodystrophies
- How many people
- 10 participants
- Where
- 1 siteUnited States
- Study dates
- 23 Jan 2019to 23 Jan 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
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: Subjects identified with a leukodystrophy of unknown etiology
Who may be able to join
- Subjects must:
- have clinical and radiographic signs of leukodystrophy without a specific etiology
- no diagnosis of adrenoleukodystrophy, adrenomyeloneuropathy, metachromatic leukodystrophy, Krabbe disease, Canavan disease, a well-defined amino acid organic acid disorder, or a systemic mitochondrial cytopathy.
- First-degree relatives of patients with leukodystrophies of unknown etiology (father, mother, siblings, or sons and daughters of the patients)
- Be able to travel to Baylor University Medical Center in Dallas Texas for evaluation and spend 5-8 working days on site
- Be able to tolerate a general exam and neurological exam
Show all 10Show fewer
- Be able to tolerate a modest amount of blood drawing, provide a urine specimen, and have a skin biopsy(if not previously done)
- Be able to tolerate the performance of necessary neuroimaging studies to include EEG and Head MRI
- Be able to tolerate a neuropsychological testing and rehabilitation evaluation
- Be able to tolerate spinal tap or nerve biopsy if needed
Who cannot join
- Unable to travel to Baylor University Medical Center in Dallas Texas for evaluation
- Refusal to sign a study consent form
- Unable to tolerate the performance of the required testing
Trial locations and contacts
1 site in 1 country.
United States1 site
Baylor University Medical Center
Dallas, Texas, 75246
About this study
Official title: The Etiology, Pathogenesis, and Natural History of the Leukodystrophies
The purpose of this study is to:
- define novel homogeneous groups of patients with LDs and
- work toward finding the cause of these disorders.
Read the detailed description
Patients with leukodystrophies (LDs) of unknown etiology are a heterogeneous group but constitute the second largest group of genetic white matter diseases. In order to find the cause of leukodystrophies, patients with LDs of unknown cause will be analyzed clinically, neurophysiologically, biochemically and genetically. Patients would have been diagnosed as having no known leukodystrophies at outside centers. At the Baylor University Medical Center, such patients will undergo a series of neuropsychological, blood, urine, spinal fluid, radiological, and peripheral tissue pathological tests. Some of these tests will be part of a standard battery while others will be tailored to individual patients. Patients will be followed yearly or as necessary. Patients will be screened for mutations in genes coding for structural myelin proteins. In some patients in whom all tests yielded no information regarding the etiology of their disease, and in whom there is evidence to suggest involvement of the peripheral nervous system, a sural nerve biopsy will be considered. Sural nerve biopsy tissue will be evaluated using a novel combination of approaches including detailed pathological, immunohistochemical, and biochemical analysis of myelin proteins and lipids. Schwann cell biology and expression of myelin genes in the brain will also be investigated in situ. It is hoped that the present study will help clarify the nosology of the leukodystrophies and significantly advance our understanding of the pathogenesis of these diseases.
- Conditions
- Leukodystrophies
- Keywords
- Leukodystrophy, Myelin Gene, Myelin Protein, Sural Nerve Biopsy, Undiagnosed Disease, Schwann Cell, White Matter Pathology, Motor Delay, Cognitive Regression, Motor Deterioration, Unknown Disease
- Medical subject headings
- Undiagnosed Diseases, Psychomotor Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Leukodystrophy of unknown etiology | Subjects who may have an undiagnosed form of leukodystrophy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Neuropsychological evaluation to measure baseline cognitive function and detect signs of dementia over time
Neuropsychological status is evaluated at Baseline and no less than once every year for the duration of the study to assess for any deterioration in function
Measured: Every 52 weeks up to 5 years
Secondary outcomes (10)
Evoked potentials to assess involvement of different areas of brain over time
Evoked potentials are evaluated at Baseline and no less than once every year for the duration of the study to assess for changes in function
Measured: Every 52 weeks up to 5 years
MRI of the brain to assess involvement of different areas of the brain over time
Changes in the brain are assessed at Baseline and no less than once every year for the duration of the study to assess for changes
Measured: Every 52 weeks
Electroencephalogram to assess involvement of different areas of the brain over time
EEG is assessed at Baseline and no less than once a year for the duration of the study to assess for changes in function
Measured: Every 52 weeks up to 5 years
Electromyelogram to assess for changes in muscle function over time
EMG is assessed at Baseline and no less than once a year for the duration of the study to assess for changes in function
Measured: Every 52 weeks up to 5 years
Nerve Conduction study to assess abnormalities in affected nerves
Nerve conduction is assessed at Baseline and no less than once a year for the duration of the study to assess for changes in function
Measured: Every 52 weeks up to 5 years
Skin biopsy for to look for evidence of storage disease
Measured: Baseline
DNA Studies to search for mutations in genes of structural myelin proteins or genes that control myelin production
Measured: Baseline
Spinal Tap to look for diagnostic markers of leukodystrophy
Measured: Baseline
Nerve Biopsy to look for pathological abnormalities in affected nerves
Measured: Baseline
Neuro-ophthalmological exam to assess for abnormalities in the eye
Eyes are assessed at Baseline and no less than once a year for the duration of the study to assess for changes in function
Measured: Every 52 weeks up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jul 2016 (estimated)
- Study start23 Jan 2019
- Primary completion23 Jan 2019
- Study completion23 Jan 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for LeukodystrophiesStudies of the same condition, open and under way.
- More trials run by Baylor Research InstituteThe 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
- Prospective
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- Baylor Research Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Raphael Schiffmann, MD, MHS, Principal investigator, Baylor University Medical Center, Baylor Institute of Metabolic Disease
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02843555
- Sponsor's protocol ID
- 008-169
- Status last verified
- Mar 2019
- First submitted
- 7 Apr 2016
- Last updated
- 22 Mar 2019
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Mar 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Etiology, Pathogenesis, and Natural History of the Leukodystrophies
- ClinicalTrials.gov ID
- NCT02843555
- Acronym / sponsor ID
- 008-169
- Conditions
- Leukodystrophies
- Keywords
- Leukodystrophy, Myelin Gene, Myelin Protein, Sural Nerve Biopsy, Undiagnosed Disease, Schwann Cell, White Matter Pathology, Motor Delay
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 10 participants (actual)
- Lead sponsor
- Baylor Research InstituteUniversity, hospital or other
- Study start
- 23 Jan 2019 (actual)
- Primary completion
- 23 Jan 2019 (actual)
- Study completion
- 23 Jan 2019 (actual)
- First posted
- 26 Jul 2016 (estimated)
- 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 purpose of this study is to:
- define novel homogeneous groups of patients with LDs and
- work toward finding the cause of these disorders.
Detailed description
Patients with leukodystrophies (LDs) of unknown etiology are a heterogeneous group but constitute the second largest group of genetic white matter diseases. In order to find the cause of leukodystrophies, patients with LDs of unknown cause will be analyzed clinically, neurophysiologically, biochemically and genetically. Patients would have been diagnosed as having no known leukodystrophies at outside centers. At the Baylor University Medical Center, such patients will undergo a series of neuropsychological, blood, urine, spinal fluid, radiological, and peripheral tissue pathological tests. Some of these tests will be part of a standard battery while others will be tailored to individual patients. Patients will be followed yearly or as necessary. Patients will be screened for mutations in genes coding for structural myelin proteins. In some patients in whom all tests yielded no information regarding the etiology of their disease, and in whom there is evidence to suggest involvement of the peripheral nervous system, a sural nerve biopsy will be considered. Sural nerve biopsy tissue will be evaluated using a novel combination of approaches including detailed pathological, immunohistochemical, and biochemical analysis of myelin proteins and lipids. Schwann cell biology and expression of myelin genes in the brain will also be investigated in situ. It is hoped that the present study will help clarify the nosology of the leukodystrophies and significantly advance our understanding of the pathogenesis of these diseases.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Leukodystrophy of unknown etiology | – | –Subjects who may have an undiagnosed form of leukodystrophy |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects identified with a leukodystrophy of unknown etiology
Key inclusion criteria (10 listed)
- have clinical and radiographic signs of leukodystrophy without a specific etiology
- no diagnosis of adrenoleukodystrophy, adrenomyeloneuropathy, metachromatic leukodystrophy, Krabbe disease, Canavan disease, a well-defined amino acid organic acid disorder, or a systemic mitochondrial cytopathy.
- First-degree relatives of patients with leukodystrophies of unknown etiology (father, mother, siblings, or sons and daughters of the patients)
- Be able to travel to Baylor University Medical Center in Dallas Texas for evaluation and spend 5-8 working days on site
- Be able to tolerate a general exam and neurological exam
Key exclusion criteria (3 listed)
- Unable to travel to Baylor University Medical Center in Dallas Texas for evaluation
- Refusal to sign a study consent form
- Unable to tolerate the performance of the required testing
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
Neuropsychological evaluation to measure baseline cognitive function and detect signs of dementia over time
Time frame: Every 52 weeks up to 5 years
Neuropsychological status is evaluated at Baseline and no less than once every year for the duration of the study to assess for any deterioration in function
10 secondary outcomes
Evoked potentials to assess involvement of different areas of brain over time
Time frame: Every 52 weeks up to 5 years
MRI of the brain to assess involvement of different areas of the brain over time
Time frame: Every 52 weeks
Electroencephalogram to assess involvement of different areas of the brain over time
Time frame: Every 52 weeks up to 5 years
Electromyelogram to assess for changes in muscle function over time
Time frame: Every 52 weeks up to 5 years
Nerve Conduction study to assess abnormalities in affected nerves
Time frame: Every 52 weeks up to 5 years
Skin biopsy for to look for evidence of storage disease
Time frame: Baseline
DNA Studies to search for mutations in genes of structural myelin proteins or genes that control myelin production
Time frame: Baseline
Spinal Tap to look for diagnostic markers of leukodystrophy
Time frame: Baseline
Nerve Biopsy to look for pathological abnormalities in affected nerves
Time frame: Baseline
Neuro-ophthalmological exam to assess for abnormalities in the eye
Time frame: Every 52 weeks up to 5 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Mar 2019.
- Individual participant dataSharing planned: No
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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. This study is not recruiting at the moment.
Raphael Schiffmann, MD, MHS principal investigator
Baylor University Medical Center, Baylor Institute of Metabolic Disease
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 Leukodystrophies, run by Baylor Research Institute 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 10 inclusion and 3 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: finished, as of the sponsor's last update on 22 Mar 2019. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Neuropsychological evaluation to measure baseline cognitive function and detect signs of dementia over time (time frame: Every 52 weeks up to 5 years). 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 22 Mar 2019.