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

Sponsor

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta (Other)

Overall Status

Recruiting

CT.gov ID

NCT04880356

Collaborator

(none)

100

Enrollment

Location

Anticipated Duration (Months)

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Inherited Disease Rare Diseases Metabolic Disease Undiagnosed Disease Neurologic Disorder Neuro-Degenerative Disease	Other: collection of 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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

100 participants

Observational Model:

Other

Time Perspective:

Other

Official Title:

Clinical, Instrumental and Laboratory Data Collection of Subjects With Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases

Actual Study Start Date :

Mar 1, 2021

Anticipated Primary Completion Date :

Mar 1, 2023

Anticipated Study Completion Date :

Dec 1, 2023

Arms and Interventions

Arm	Intervention/Treatment
Retrospective study collection of retrospective data from adult patients with ultra-rare inherited neurological diseases	Other: collection of data 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	Other: collection of data collection of retrospective and prospective data from adult patients with ultra-rare inherited neurological diseases

Arm

Intervention/Treatment

Retrospective study

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

Other: collection of data

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

Other: collection of data

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

Outcome Measures

Primary Outcome Measures

Verbal (letter) fluency [10 years]
Repeated Montreal Cognitive Assessment (MoCA) letter F fluency subtest
Stance and gait performances [Time Frame: 10 years] Stance and gait performances [10 years]
Repeated SARA (Scale for the Assessment and Rating Ataxia) stance subtask, ambulation index (AI) and Timed Up and Go (TUG) test
Upper limb motor function [10 years]
Repeated ONLS (Overall Neuropathy Limitation Scale) arm scale
Swallowing function (dysphagia) [10 years]
Repeated NP-C mDRS (Niemann-Pick type C modified disability rating scale) swallowing scale
Speech function (dysarthria) [10 years]
Repeated NP-C mDRS language scale
Bladder function [10 years]
Repeated AADS (Adult Adrenoleukodystrophy Disability Score) Bladder function scale
Sleep [10 years]
Repeated assessment of presence or absence of sleep disturbances
Quality of life [10 years]
Repeated EuroQol-5D-5L (EQ-5D-5L) questionnaire

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts 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)