Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-03-01

Study Completion Date

2031-03-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Inherited Disease Rare Diseases Metabolic Disease Undiagnosed Disease Neurologic Disorder Neuro-Degenerative Disease

Study Design

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Observational Model Type

OTHER

Study Time Perspective

OTHER

Study Groups

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Retrospective study

collection of retrospective data from adult patients with ultra-rare inherited neurological diseases

collection of data

Intervention Type OTHER

collection of retrospective and prospective data from adult patients with ultra-rare inherited neurological diseases

Prospective study

prospective data will be collected starting from March 2021 (date of protocol approval) and spanning the next ten years

collection of data

Intervention Type OTHER

collection of retrospective and prospective data from adult patients with ultra-rare inherited neurological diseases

Interventions

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collection of data

collection of retrospective and prospective data from adult patients with ultra-rare inherited neurological diseases

Intervention Type OTHER

Eligibility Criteria

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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)