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

What this Trial Is About

Researchers are studying adults with ultra-rare inherited metabolic and degenerative neurological diseases, which are very uncommon conditions affecting fewer than 5 in 100,000 people. The aim is to improve understanding of these diseases by collecting detailed clinical, laboratory, and instrumental data over time. This observational study gathers both past data and ongoing information to track how these conditions develop in adulthood. The study includes two main parts: collecting retrospective data from adult patients treated at the Carlo Besta Neurological Institute from January 2004 to March 2021, and gathering prospective data starting from March 2021 for the next ten years. During the prospective phase, patients will receive regular clinical evaluations at least once a year. Assessments include functional tests like the Timed Up and Go Test, rating scales such as the Scale for the Assessment and Rating of Ataxia (SARA), and various laboratory and instrumental exams based on standard clinical practice. Participants will be involved in yearly follow-up visits to monitor disease progression through verbal fluency tests, stance and gait performance, upper limb motor function, swallowing and speech function, bladder function, sleep patterns, and quality of life over a ten-year period. Data collection follows normal clinical care procedures, including neuroimaging and neurophysiological studies when appropriate. This ongoing observation aims to deepen knowledge about these rare neurological conditions in adults.

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