Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: collection of data.
- Who it may be relevant to
- Registry conditions: Inherited Disease, Rare Diseases, Metabolic Disease, Undiagnosed Disease. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
Overview
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.
Interventions
- Other collection of data
collection of retrospective and prospective data from adult patients with ultra-rare inherited neurological diseases
Primary outcome measures
- Verbal (letter) fluency [Time frame: 10 years]
- Stance and gait performances [Time Frame: 10 years] Stance and gait performances [Time frame: 10 years]
- Upper limb motor function [Time frame: 10 years]
- Swallowing function (dysphagia) [Time frame: 10 years]
- Speech function (dysarthria) [Time frame: 10 years]
- Bladder function [Time frame: 10 years]
- Sleep [Time frame: 10 years]
- Quality of life [Time frame: 10 years]
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
- none
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Other
Study locations
Italy · 1 center
- Fondazione IRCCS Istituto Neurologico Carlo Besta — Milan
Publications
- Benzoni C, Moscatelli M, Lanteri P, Pensato V, Calo C, Allievi S, Gellera C, Ardissone A, Moroni I, Fenu S, Cavalca E, Pareyson D, Salsano E. Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort. J Neurol Neurosurg Psychiatry. 2026 May 14;97(6):483-492. doi: 10.1136/jnnp-2025-337540. PMID 41667276
- Moscatelli M, Benzoni C, Doniselli FM, Verri M, Pascuzzo R, Aquino D, Mazzi F, Erbetta A, Salsano E. Interval between contrast administration and T1-weighted MRI for cerebral adrenoleukodystrophy: a single-case observation. Eur Radiol Exp. 2023 Oct 2;7(1):57. doi: 10.1186/s41747-023-00373-6. PMID 37782421
Identifiers
NCT: NCT04880356 · MaNeNeND