Long-term observation of ultra-rare inherited neurological diseases.

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to enhance clinical understanding of ultra-rare inherited metabolic and degenerative neurological diseases by systematically collecting clinical, laboratory, and instrumental data over a long period. It includes retrospective data from adult patients followed at the Carlo Besta Neurological Institute from 2004 to 2021, and will continue with prospective data collection for the next ten years. Patients will undergo annual follow-ups and assessments using various functional tests and clinical scales to evaluate disease progression and manifestations.

Why it matters

Who can join: the full rules

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

Where it's running

• Fondazione IRCCS Istituto Neurologico Carlo Besta
  Milan, Milano, Italy Recruiting

Study contacts

• Study coordinator: Ettore Salsano, MD
• Email: ettore.salsano@istituto-besta.it
• Phone: +39022394

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.