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

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Status: Enrolling

Conditions: Neuro-Degenerative Disease; Undiagnosed Disease; Inherited Disease; Metabolic Disease; Rare Diseases; Neurologic Disorder

Treatments: Other: collection of data

Study type: Observational

Funder types: Other

Identifiers

NCT04880356

MaNeNeND

Details and patient eligibility

About

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.

Full 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.

Enrollment: 100 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

• none

Trial design

100 participants in 2 patient groups

Retrospective study

Description:

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

Treatment:

Other: collection of data

Prospective study

Description:

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

Treatment:

Other: collection of data