- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03951298
I-Tracking Neurodegeneration in Early Wolfram Syndrome (I-TRACK)
International Tracking Neurodegeneration in Early Wolfram Syndrome
Study Overview
Status
Conditions
Detailed Description
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
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Samantha A Ranck, MSW
- Phone Number: 314-362-6514
- Email: blankens@wustl.edu
Study Contact Backup
- Name: Kaeli Spight
- Phone Number: 314-362-4721
- Email: kspight@wustl.edu
Study Locations
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Missouri
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Saint Louis, Missouri, United States, 63110
- Washington University School of Medicine
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Wolfram Syndrome Group (WFS):
Inclusion Criteria:
- Patient has confirmation of a WFS1 mutation OR
Both of the following conditions:
- diabetes mellitus requiring insulin and
- optic nerve atrophy diagnosed by a physician.
Exclusion Criteria:
- Patient is unaware of their diagnosis.
- Inability of patient or guardian to understand informed consent.
- Advanced disease that makes traveling too problematic and/or uncomfortable for the patient and/or guardian, such as the use of a ventilator or inability to walk.
Sibling Group: Biological, half and step-siblings who do not have any symptoms of WFS and/or have had genetic testing to show that they do not have WFS may participate.
Exclusion Criteria:
• Inability of participant or guardian to understand informed consent.
Proxy Group: Adult Biological parent(s), biological caregiver, or non-biological caregiver of adult and minor participants in any of the four groups.
Inclusion criteria:
• Biological or non-biological parent/caregiver (proxy) of a participant.
Exclusion Criteria:
• Proxy is unaware of the participant's diagnosis (as it applies).
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
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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
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Proxy Group
Adult Biological parent(s), biological caregiver or non-biological caregiver of adult and minor participants in the any of the groups.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Change in regional brain volumes over time
Time Frame: Annually for 5 years.
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MRI measures of regional brain volumes over time
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Annually for 5 years.
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Change in disease severity score
Time Frame: Annually for 5 years.
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WURS physical severity score over time
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Annually for 5 years.
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Collaborators and Investigators
Investigators
- Principal Investigator: Tamara G Hershey, PhD, Washington University Medical School
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Pathologic Processes
- Glucose Metabolism Disorders
- Metabolic Diseases
- Nervous System Diseases
- Kidney Diseases
- Urologic Diseases
- Eye Diseases
- Neurologic Manifestations
- Endocrine System Diseases
- Disease
- Congenital Abnormalities
- Diabetes Mellitus
- Genetic Diseases, Inborn
- Otorhinolaryngologic Diseases
- Neurodegenerative Diseases
- Ear Diseases
- Eye Diseases, Hereditary
- Heredodegenerative Disorders, Nervous System
- Optic Nerve Diseases
- Cranial Nerve Diseases
- Sensation Disorders
- Optic Atrophies, Hereditary
- Optic Atrophy
- Pituitary Diseases
- Abnormalities, Multiple
- Hearing Disorders
- Vision Disorders
- Deaf-Blind Disorders
- Blindness
- Hearing Loss
- Deafness
- Diabetes Insipidus
- Diabetes Mellitus, Type 1
- Female Urogenital Diseases
- Female Urogenital Diseases and Pregnancy Complications
- Urogenital Diseases
- Male Urogenital Diseases
- Syndrome
- Nerve Degeneration
- Wolfram Syndrome
Other Study ID Numbers
- 201808060
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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Washington University School of MedicineNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaboratorsRecruitingDiabetes Mellitus | Deafness | Ataxia | Diabetes Insipidus | Wolfram Syndrome | Optic Nerve AtrophyUnited States
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Amylyx Pharmaceuticals Inc.Recruiting
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Centre d'Etude des Cellules SouchesGenethonRecruitingWolfram SyndromeFrance, Spain
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Ospedale San RaffaeleRecruiting
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McGill University Health Centre/Research Institute...RecruitingDiabetes Mellitus, Type 1 | Wolfram Syndrome | Neonatal Diabetes | Monogenic Diabetes | Maturity-onset Diabetes in the Young (MODY) | Wolcott-Rallison Syndrome | Mitochondrial DiabetesCanada
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Washington University School of MedicineNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National...CompletedDiabetes Mellitus | Ataxia | Wolfram Syndrome | Optic Nerve AtrophyUnited States
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Hadassah Medical OrganizationUnknownDiabetes Mellitus | Iron Metabolism Disorders | Optic Atrophy | Sensorineural Hearing Loss | Platelet Dysfunction | Gastroduodenal UlcerIsrael