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

Metabolic Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04880356
• Other study ID #: MaNeNeND
• Status: Recruiting
• Start date: March 1, 2021
• Est. completion date: December 2023

Study information

• Verified date: April 2021
• Source: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
• Contact: Ettore Salsano, MD
• Phone: +39022394
• Email: ettore.salsano[@]istituto-besta.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: December 2023
• Est. primary completion date: March 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Inherited Disease
• Metabolic Disease
• Metabolic Diseases
• Nervous System Diseases
• Neuro-Degenerative Disease
• Neurodegenerative Diseases
• Neurologic Disorder
• Rare Diseases
• Undiagnosed Disease

Intervention

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

Locations

Country	Name	City	State
Italy	Fondazione IRCCS Istituto Neurologico Carlo Besta	Milano

Sponsors (1)

Lead Sponsor	Collaborator
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Verbal (letter) fluency	Repeated Montreal Cognitive Assessment (MoCA) letter F fluency subtest	10 years
Primary	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
Primary	Upper limb motor function	Repeated ONLS (Overall Neuropathy Limitation Scale) arm scale	10 years
Primary	Swallowing function (dysphagia)	Repeated NP-C mDRS (Niemann-Pick type C modified disability rating scale) swallowing scale	10 years
Primary	Speech function (dysarthria)	Repeated NP-C mDRS language scale	10 years
Primary	Bladder function	Repeated AADS (Adult Adrenoleukodystrophy Disability Score) Bladder function scale	10 years
Primary	Sleep	Repeated assessment of presence or absence of sleep disturbances	10 years
Primary	Quality of life	Repeated EuroQol-5D-5L (EQ-5D-5L) questionnaire	10 years