Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
Last updated on July 2021Recruitment
- Recruitment Status
- Recruiting
- Estimated Enrollment
- Same as current
Summary
- Conditions
- Inherited Disease
- Metabolic Disease
- Neuro-Degenerative Disease
- Neurologic Disorder
- Rare Diseases
- Undiagnosed Disease
- Type
- Observational
- Design
- Observational Model: OtherTime Perspective: Other
Participation Requirements
- Age
- Between 18 years and 125 years
- Gender
- Both males and females
Description
The study provides a collection of retrospective data from adult patients with ultra-rare inherited neurological diseases followed at "Carlo Besta" Neurological Institute from 1st January 2004 until March 2021. Further, prospective data will be collected starting from March 2021 (date of protocol ap...
The study provides a collection of retrospective data from adult patients with ultra-rare inherited neurological diseases followed at "Carlo Besta" Neurological Institute from 1st January 2004 until March 2021. Further, prospective data will be collected starting from March 2021 (date of protocol approval) and spanning the next ten years. Normal clinical practice will be followed for collection of the prospective data. Follow-up assessment will be performed at least once a year to evaluate the disease course. Based on their clinical manifestations, patients will be assessed by using quantitative functional tests (clinimetric tests such as Timed Up and Go Test) and traditional ordinal scales (such as the scale for the assessment and rating of ataxia (SARA). Moreover, a varying of laboratory and instrumental tests (e.g., neuroimaging, neurophysiological investigations, etc.) will be used according to clinical practice in selected patients.
Tracking Information
- NCT #
- NCT04880356
- Collaborators
- Not Provided
- Investigators
- Not Provided
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