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

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

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.

Study Overview

• Status: Recruiting
• Conditions: Neurologic Disorder; Rare Diseases; Metabolic Disease; Inherited Disease; Undiagnosed Disease; Neuro-Degenerative Disease
• Intervention / Treatment: 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 Type: Observational
• Enrollment (Anticipated): 100

Contacts and Locations

• Study Contact: Name: Renato Mantegazza, MD; Phone Number: 2321 +39022394; Email: crc@istituto-besta.it
• Study Contact Backup: Name: Ettore Salsano, MD; Phone Number: 3001 +39022394; Email: ettore.salsano@istituto-besta.it

Study Locations

• Italy
  • Milano, Italy, 20133
    • Recruiting
    • Fondazione IRCCS Istituto Neurologico Carlo Besta
    • Contact: Elena Mauro, MD; Phone Number: 2388 +39022394; Email: elena.mauro@istituto-besta.it
    • Principal Investigator: Ettore Salsano, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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)

Description

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 Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	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

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2021
• Primary Completion (Anticipated): March 1, 2023
• Study Completion (Anticipated): December 1, 2023

Study Registration Dates

• First Submitted: April 19, 2021
• First Submitted That Met QC Criteria: May 6, 2021
• First Posted (Actual): May 10, 2021

Study Record Updates

• Last Update Posted (Actual): May 10, 2021
• Last Update Submitted That Met QC Criteria: May 6, 2021
• Last Verified: April 1, 2021

More Information

Terms related to this study

• Keywords: Sphingolipidoses; 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,
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Nervous System Diseases; Neurodegenerative Diseases; Metabolic Diseases; Rare Diseases; Undiagnosed Diseases
• Other Study ID Numbers: MaNeNeND

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No