COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Natural History of the Leukodystrophies

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02843555
Recruitment Status : Completed
First Posted : July 26, 2016
Last Update Posted : March 22, 2019
Sponsor:
Information provided by (Responsible Party):
Baylor Research Institute

Tracking Information
First Submitted Date April 7, 2016
First Posted Date July 26, 2016
Last Update Posted Date March 22, 2019
Actual Study Start Date January 23, 2019
Actual Primary Completion Date January 23, 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 21, 2016)
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
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: July 21, 2016)
  • Evoked potentials to assess involvement of different areas of brain over time [ Time Frame: Every 52 weeks up to 5 years ]
    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
  • MRI of the brain to assess involvement of different areas of the brain over time [ Time Frame: Every 52 weeks ]
    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
  • Electroencephalogram to assess involvement of different areas of the brain over time [ Time Frame: Every 52 weeks up to 5 years ]
    EEG is assessed at Baseline and no less than once a year for the duration of the study to assess for changes in function
  • Electromyelogram to assess for changes in muscle function over time [ Time Frame: Every 52 weeks up to 5 years ]
    EMG is assessed at Baseline and no less than once a year for the duration of the study to assess for changes in function
  • Nerve Conduction study to assess abnormalities in affected nerves [ Time Frame: Every 52 weeks up to 5 years ]
    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
  • 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 ]
    Eyes are assessed at Baseline and no less than once a year for the duration of the study to assess for changes in function
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Natural History of the Leukodystrophies
Official Title The Etiology, Pathogenesis, and Natural History of the Leukodystrophies
Brief 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.
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 Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood, urine, skin
Sampling Method Non-Probability Sample
Study Population Subjects identified with a leukodystrophy of unknown etiology
Condition Leukodystrophies
Intervention Not Provided
Study Groups/Cohorts Leukodystrophy of unknown etiology
Subjects who may have an undiagnosed form of leukodystrophy
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: March 21, 2019)
10
Original Estimated Enrollment
 (submitted: July 21, 2016)
50
Actual Study Completion Date January 23, 2019
Actual Primary Completion Date January 23, 2019   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

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
  • 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

Exclusion Criteria:

  • 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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02843555
Other Study ID Numbers 008-169
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Baylor Research Institute
Study Sponsor Baylor Research Institute
Collaborators Not Provided
Investigators
Principal Investigator: Raphael Schiffmann, MD, MHS Baylor University Medical Center, Baylor Institute of Metabolic Disease
PRS Account Baylor Research Institute
Verification Date March 2019