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.
Age range
18 Years
Sex
ALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Verbal (letter) fluency
Timeframe: 10 years
Stance and gait performances [Time Frame: 10 years] Stance and gait performances
Timeframe: 10 years
Upper limb motor function
Timeframe: 10 years
Swallowing function (dysphagia)
Timeframe: 10 years
Speech function (dysarthria)
Timeframe: 10 years
Bladder function
Timeframe: 10 years
Sleep
Timeframe: 10 years
Quality of life
Timeframe: 10 years