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

Condition(s) studied

Investigational drug(s) / intervention(s)

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

Study 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.

Eligibility

Primary outcome measure(s)

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

Trial sites (1)

More Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta trials in Italy

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