Clinical trial · Observational
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
NCT04880356CI-TRIAL-00082703recruitingClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (6)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Inherited Disease | — | UNRESOLVED | — |
| Metabolic Disease | — | UNRESOLVED | — |
| Neuro-Degenerative Disease | — | UNRESOLVED | — |
| Neurologic Disorder | — | UNRESOLVED | — |
| Rare Diseases | — | UNRESOLVED | — |
| Undiagnosed Disease | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| collection of data | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- label
- Retrospective study
- description
- collection of retrospective data from adult patients with ultra-rare inherited neurological diseases
- interventionNames
- Other: collection of data
- label
- Prospective study
- description
- prospective data will be collected starting from March 2021 (date of protocol approval) and spanning the next ten years
- interventionNames
- Other: collection of data
Primary outcomes (8)
- measure
- Verbal (letter) fluency
- timeFrame
- 10 years
- description
- Repeated Montreal Cognitive Assessment (MoCA) letter F fluency subtest
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
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
References
Publications (2)
- DERIVEDBenzoni C, Moscatelli M, Lanteri P, Pensato V, Calo C, Allievi S, Gellera C, Ardissone A, Moroni I, Fenu S, Cavalca E, Pareyson D, Salsano E. Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort. J Neurol Neurosurg Psychiatry. 2026 May 14;97(6):483-492. doi: 10.1136/jnnp-2025-337540. PMID 41667276
- DERIVEDMoscatelli M, Benzoni C, Doniselli FM, Verri M, Pascuzzo R, Aquino D, Mazzi F, Erbetta A, Salsano E. Interval between contrast administration and T1-weighted MRI for cerebral adrenoleukodystrophy: a single-case observation. Eur Radiol Exp. 2023 Oct 2;7(1):57. doi: 10.1186/s41747-023-00373-6. PMID 37782421