Clinical trial NCT04880356: Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
Official title: Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Inherited Disease
Rare Diseases
Metabolic Disease
Undiagnosed Disease
Neurologic Disorder
Neuro-Degenerative Disease
Keywords: Leukodystrophies,
Adrenoleukodystrophy,
Metachromatic leukodystrophy,
Krabbe disease,
Vanishing White Matter Syndrome,
Alexander disease,
Hereditary Leukodystrophy with Spheroids (CSF1R-related HLDS),
Nasu-Hakola disease (TREM2- and TYROBP-related disease)
Leukoencephalopathy, progressive, with ovarian failure (LKENP, AARS2-related),
Pelizaeus-Merzbacher disease,
Pelizaeus-Merzbacher-like disease,
Hypomyelinating leukodystrophies,
Leukodystrophies with calcifications and cysts (LCC),
Leukoencephalopathy with ataxia disease (LKPAT, CLCN2-related),
L-2-Hydroxyglutaric aciduria,
Polyglucosan bodies disease,
Methylmalonic acidemia with homocystinuria,
Niemann-pick type C,
Fahr's disease,
Wilson's disease,
Cerebrotendinous Xanthomatosis,
Sphingolipidoses
Lead sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Sponsor class: OTHER
First posted: 2021-05-10
Enrollment: 100
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Adults with ultra-rare inherited degenerative and metabolic neurological diseases

Adults with undiagnosed neurological diseases (when supposed to be inherited)

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.

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

Primary outcomes:
measure: Verbal (letter) fluency
timeFrame: 10 years
measure: Stance and gait performances [Time Frame: 10 years] Stance and gait performances
timeFrame: 10 years
measure: Upper limb motor function
timeFrame: 10 years
measure: Swallowing function (dysphagia)
timeFrame: 10 years
measure: Speech function (dysarthria)
timeFrame: 10 years
measure: Bladder function
timeFrame: 10 years
measure: Sleep
timeFrame: 10 years
measure: Quality of life
timeFrame: 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Milano
country: Italy
facility: Fondazione IRCCS Istituto Neurologico Carlo Besta
Study officials:
References: