Tracking Neurodegeneration in Early Wolfram Syndrome
Completed
Conditions studied: Type 1 Diabetes, Diabetes Insipidus, Diabetes Mellitus, Wolfram Syndrome
In brief
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.
Key facts
- Study ID
- NCT02455414
- Run by
- Washington University School of Medicine
- People needed
- 101
- Starts
- 2012-04-01
- Expected to finish
- 2017-07-12
- Last updated by the study team
- 2018-07-11
Who can join
Age: 0 and older. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- 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
You may not qualify if…
- 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. claustrophobia, metal implants, foreign bodies)
- Orthodontic braces. Full and top braces will exclude.
- Healthy Control (HC) Group:
- Inclusion criteria:
- Age within the 0-28 yrs age range of WFFS participants
- Exclusion criteria:
- Inability of patient or guardian to understand informed consent.
- Dx of T1 diabetes mellitus
- Diagnosis of any major neurological or medical condition.
Where it is running
- Washington University School of Medicine — St Louis, Missouri, United States
Full record on ClinicalTrials.gov
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