Long-term observation of ultra-rare inherited neurological diseases.
Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · NCT04880356
This study is looking to learn more about very rare inherited neurological diseases by tracking and collecting information from patients over a long time to see how these conditions change and affect their lives.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta (other) |
| Locations | 1 site (Milan, Milano) |
| Trial ID | NCT04880356 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates are adults aged 18 and older with ultra-rare inherited degenerative and metabolic neurological diseases or undiagnosed neurological diseases suspected to be inherited.
Not a fit: Patients with common neurological disorders or those under 18 years of age may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and management strategies for patients with ultra-rare neurological diseases.
How similar studies have performed: While studies on rare diseases are challenging, previous research has shown that systematic data collection can lead to significant advancements in understanding and treating rare conditions.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Milan, Milano
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Inherited Disease, Rare Diseases, Metabolic Disease, Undiagnosed Disease, Neurologic Disorder, Neuro-Degenerative Disease, Leukodystrophies,, Adrenoleukodystrophy,