CompletedNot Applicable

Tracking Neurodegeneration in Early Wolfram Syndrome

United States101 participantsStarted 2012-04

Plain-language summary

The goal of this study is to determine the pattern of early neurodegenerative changes in WFS (Wolfram Syndrome). The investigator will perform cross-sectional and longitudinal assessments of youth with WFS, targeting sensitive neural systems with quantified neuroimaging and behavioral measures. In addition, the investigator will establish the utility of a WFS severity rating scale (WFS Unified Rating Scale or WURS). Preliminary data support the feasibility of this approach and its potential to generate important new information about neurodevelopmental and neurodegenerative patterns in WFS. This work is necessary to position the field for future clinical trials to test interventions for WFS neurodegeneration. Ultimately, a better understanding of the trajectory of neurodegeneration in WFS and the development of effective interventions may be relevant to other more common neurodegenerative and endocrine (Type 1 and Type 2 diabetes) diseases in which ER stress has been implicated.

Who can participate

Age range

1 Day

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Wolfram Syndrome Group (WFS): Inclusion Criteria: * 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 Exclusion Criteria: * Participant 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 use of ventilator or inability to walk. T1DM Group: Inclusion criteria: * Age within the 0-28 yrs age range of WS participant * Dx of T1 diabetes mellitus Exclusion criteria: * Participant is unaware of their diagnosis. * Inability of patient or guardian to understand informed consent. * Diagnosis of any major neurological or medical condition. * Chronic disease other than T1DM, well-controlled asthma, or Hashimoto's thyroiditis. * Other current serious medical illness * Co-morbid psychiatric illness: such as mania, mental retardation, or psychoactive drug dependence. * Co-morbid neurological illness: stroke, seizure, major loss of consciousness, other brain trauma/surgery, or head injuries (i.e. near drowning), encephalitis, or hydrocephalus, blindness, deafness. * Pre-maturity at birth \>4 wks early (\<36 wk term) w/ sequelae (e.g. on respirator at NICU) * Contraindication to MRI scan (e.g.…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change in regional brain volume

Timeframe: annually for 5 years

Trial details

NCT IDNCT02455414

SponsorWashington University School of Medicine

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2017-07-12

View on ClinicalTrials.gov More Type 1 Diabetes trials