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

Recruiting

• Conditions: Metabolic Disease; Rare Diseases; Neuro-Degenerative Disease; Neurologic Disorder; Inherited Disease; Undiagnosed Disease
• Interventions: Other: collection of data

• Registration Number: NCT04880356
• Lead Sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

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.

Study Timeline

• Study Start: 2021-03-01
• Study First Submitted: 2021-04-19
• Study First Submitted QC: 2021-05-06
• Study First Posted: 2021-05-10
• Status Verified: 2024-11
• Last Update Submitted: 2024-11-15
• Last Update Posted: 2024-11-19
• Primary Completion: 2031-03
• Study Completion: 2031-03

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Prospective study	collection of data	prospective data will be collected starting from March 2021 (date of protocol approval) and spanning the next ten years
Retrospective study	collection of data	collection of retrospective data from adult patients with ultra-rare inherited neurological diseases

Primary Outcome Measures

Name	Time	Method
Verbal (letter) fluency	10 years	Repeated Montreal Cognitive Assessment (MoCA) letter F fluency subtest
Bladder function	10 years	Repeated AADS (Adult Adrenoleukodystrophy Disability Score) Bladder function scale
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
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
Speech function (dysarthria)	10 years	Repeated NP-C mDRS language scale
Quality of life	10 years	Repeated EuroQol-5D-5L (EQ-5D-5L) questionnaire
Sleep	10 years	Repeated assessment of presence or absence of sleep disturbances

Trial Locations

Locations (1)

Fondazione IRCCS Istituto Neurologico Carlo Besta; 🇮🇹 Milano, Italy