I.R.C.C.S. Foundation Carlo Besta Neurological Institute
General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal collection of clinical, laboratory and instrumental data.
Inherited Disease
Rare Diseases
Metabolic Disease
Undiagnosed Disease
Neurologic Disorder
Neuro-Degenerative Disease
collection of data
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.
| Study Type : | OBSERVATIONAL |
| Estimated Enrollment : | 100 participants |
| Official Title : | Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases |
| Actual Study Start Date : | 2021-03-01 |
| Estimated Primary Completion Date : | 2031-03 |
| Estimated Study Completion Date : | 2031-03 |
Information not available for Arms and Intervention/treatment
| Ages Eligible for Study: | 18 Years |
| Sexes Eligible for Study: | ALL |
| Accepts Healthy Volunteers: |
Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.
RECRUITING
IRCCS Carlo Besta Neurological Institute Foundation
Milan, Milano, Italy, 20133