I-Tracking Neurodegeneration in Early Wolfram Syndrome (I-TRACK)
|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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT03951298|
Recruitment Status : Recruiting
First Posted : May 15, 2019
Last Update Posted : May 17, 2019
|Condition or disease|
In this new grant, researchers hypothesize that ER stress-related dysfunction could inhibit production of myelin during neurodevelopment in WFS, as active and developing oligodendrocytes (cells that produce myelin in the brain) are more vulnerable to ER stress than mature ones. However, standard DTI methods conflate inflammatory processes (which can also be associated with ER stress) in the extra-axonal space with metrics of axonal and myelin integrity, leading to potentially confounded measurements. The research team proposea to collect novel, validated diffusion sequences on a new state of the art MRI scanner (Siemens Prisma) and apply cutting-edge analysis approaches to measure white matter integrity throughout the brain and in the optic nerve, improving the ability to draw conclusions about axonal and myelin integrity over time. Researchers will assess WFS patients annually at our WU Wolfram Research Clinic using these methods.
Findings from this work may indicate future targets for brain-specific intervention, identify outcome measures or high-risk subgroups for clinical trials targeting neurological symptoms. These data will also greatly expand our understanding of the cross-sectional and longitudinal phenotype of WFS1-mutation related disorders, rather than classically defined Wolfram Syndrome. Such knowledge will have a significant impact on patients and families by allowing physicians to provide more accurate prognoses. Finally, forms of ER stress-mediated apoptosis have been implicated in more common neurodegenerative, endocrine and neurodevelopmental diseases, which may benefit from the insights gained here.
|Study Type :||Observational|
|Estimated Enrollment :||115 participants|
|Official Title:||International Tracking Neurodegeneration in Early Wolfram Syndrome|
|Actual Study Start Date :||August 10, 2018|
|Estimated Primary Completion Date :||August 10, 2023|
|Estimated Study Completion Date :||August 10, 2023|
Wolfram Syndrome Patients
Participant has confirmation of a WFS1 mutation OR Both of the following conditions: diabetes mellitus requiring insulin and optic nerve atrophy diagnosed by a physician. Both conditions diabetes mellitus and optic nerve atrophy had to be diagnosed at age younger than 18 years old
Adult Biological parent(s), biological caregiver or non-biological caregiver of adult and minor participants in the any of the groups.
- Change in regional brain volumes over time [ Time Frame: Annually for 5 years. ]MRI measures of regional brain volumes over time
- Change in disease severity score [ Time Frame: Annually for 5 years. ]WURS physical severity score over time
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03951298
|Contact: Samantha A Ranck, MSWemail@example.com|
|Contact: Tasha Doty, MAfirstname.lastname@example.org|
|United States, Missouri|
|Washington University School of Medicine||Recruiting|
|Saint Louis, Missouri, United States, 63110|
|Contact: Samantha Ranck, MSW 314-362-6514 email@example.com|
|Contact: Tasha Doty, MA 314-362-7160 firstname.lastname@example.org|
|Principal Investigator: Tamara G Hershey, PhD|
|Principal Investigator:||Tamara G Hershey, PhD||Washington University Medical School|