Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Inherited Disease
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
- Enrollment
- 100
- Locations
- 1
- Primary Endpoint
- Verbal (letter) fluency
- Status
- Recruiting
- Last Updated
- last year
Overview
Brief Summary
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.
Detailed 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 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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Age \>= 18 years
- •Subjects with ultra-rare inherited degenerative and metabolic neurological diseases
- •Subjects with undiagnosed neurological diseases (when supposed to be inherited)
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Verbal (letter) fluency
Time Frame: 10 years
Repeated Montreal Cognitive Assessment (MoCA) letter F fluency subtest
Bladder function
Time Frame: 10 years
Repeated AADS (Adult Adrenoleukodystrophy Disability Score) Bladder function scale
Upper limb motor function
Time Frame: 10 years
Repeated ONLS (Overall Neuropathy Limitation Scale) arm scale
Swallowing function (dysphagia)
Time Frame: 10 years
Repeated NP-C mDRS (Niemann-Pick type C modified disability rating scale) swallowing scale
Stance and gait performances [Time Frame: 10 years] Stance and gait performances
Time Frame: 10 years
Repeated SARA (Scale for the Assessment and Rating Ataxia) stance subtask, ambulation index (AI) and Timed Up and Go (TUG) test
Speech function (dysarthria)
Time Frame: 10 years
Repeated NP-C mDRS language scale
Quality of life
Time Frame: 10 years
Repeated EuroQol-5D-5L (EQ-5D-5L) questionnaire
Sleep
Time Frame: 10 years
Repeated assessment of presence or absence of sleep disturbances