Inherited DiseaseNCT04880356
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
An observational study of Inherited Disease and Rare Diseases, run by Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta at 1 site in Italy.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Inherited Disease, Rare Diseases, Metabolic Disease
- What is being tested?
- collection of data
- How many people
- 100 participants
- Where
- 1 siteItaly
- Study dates
- 1 Mar 2021to Mar 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Adults with ultra-rare inherited degenerative and metabolic neurological diseases Adults with undiagnosed neurological diseases (when supposed to be inherited)
Who may be able to join
- Age >= 18 years
- Subjects with ultra-rare inherited degenerative and metabolic neurological diseases
- Subjects with undiagnosed neurological diseases (when supposed to be inherited)
Who cannot join
- none
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Milano, 20133
Elena Mauro, MD, +39022394 ext. 2388, elena.mauro@istituto-besta.it
Ettore Salsano, MD
About this study
Official title: Clinical, Instrumental and Laboratory Data Collection of Subjects With Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
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.
Read the detailed description
The study provides a collection of retrospective data from adult patients with ultra-rare inherited neurological diseases followed at "Carlo Besta" Neurological Institute from 1st January 2004 until March 2021. Further, prospective data will be collected starting from March 2021 (date of protocol approval) and spanning the next ten years. Normal clinical practice will be followed for collection of the prospective data. Follow-up assessment will be performed at least once a year to evaluate the disease course. Based on their clinical manifestations, patients will be assessed by using quantitative functional tests (clinimetric tests such as Timed Up and Go Test) and traditional ordinal scales (such as the scale for the assessment and rating of ataxia (SARA). Moreover, a varying of laboratory and instrumental tests (e.g., neuroimaging, neurophysiological investigations, etc.) will be used according to clinical practice in selected patients.
- Conditions
- Inherited Disease, Rare Diseases, Metabolic Disease, Undiagnosed Disease, Neurologic Disorder, Neuro-Degenerative Disease
- Being tested
- collection of data
- Keywords
- Leukodystrophies,, Adrenoleukodystrophy,, Metachromatic leukodystrophy,, Krabbe disease,, Vanishing White Matter Syndrome,, Alexander disease,, Hereditary Leukodystrophy with Spheroids (CSF1R-related HLDS),, Nasu-Hakola disease (TREM2- and TYROBP-related disease), Leukoencephalopathy, progressive, with ovarian failure (LKENP, AARS2-related),, Pelizaeus-Merzbacher disease,, Pelizaeus-Merzbacher-like disease,, Hypomyelinating leukodystrophies,, Leukodystrophies with calcifications and cysts (LCC),, Leukoencephalopathy with ataxia disease (LKPAT, CLCN2-related),, L-2-Hydroxyglutaric aciduria,, Polyglucosan bodies disease,, Methylmalonic acidemia with homocystinuria,, Niemann-pick type C,, Fahr's disease,, Wilson's disease,
- Medical subject headings
- Genetic Diseases, Inborn, Rare Diseases, Metabolic Diseases, Undiagnosed Diseases, Nervous System Diseases, Adrenoleukodystrophy, Leukodystrophy, Metachromatic, Leukodystrophy, Globoid Cell
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
collection of dataOther
collection of retrospective and prospective data from adult patients with ultra-rare inherited neurological diseases
| Study group | Role | What they receive |
|---|---|---|
| Retrospective study | collection of retrospective data from adult patients with ultra-rare inherited neurological diseases Receives: Other: collection of data | |
| Prospective study | prospective data will be collected starting from March 2021 (date of protocol approval) and spanning the next ten years Receives: Other: collection of data |
What is being measured
The primary outcome is the main question the study is designed to answer.
Verbal (letter) fluency
Repeated Montreal Cognitive Assessment (MoCA) letter F fluency subtest
Measured: 10 years
Stance and gait performances [Time Frame: 10 years] Stance and gait performances
Repeated SARA (Scale for the Assessment and Rating Ataxia) stance subtask, ambulation index (AI) and Timed Up and Go (TUG) test
Measured: 10 years
Upper limb motor function
Repeated ONLS (Overall Neuropathy Limitation Scale) arm scale
Measured: 10 years
Swallowing function (dysphagia)
Repeated NP-C mDRS (Niemann-Pick type C modified disability rating scale) swallowing scale
Measured: 10 years
Speech function (dysarthria)
Repeated NP-C mDRS language scale
Measured: 10 years
Bladder function
Repeated AADS (Adult Adrenoleukodystrophy Disability Score) Bladder function scale
Measured: 10 years
Sleep
Repeated assessment of presence or absence of sleep disturbances
Measured: 10 years
Quality of life
Repeated EuroQol-5D-5L (EQ-5D-5L) questionnaire
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 May 2021
- Study start1 Mar 2021
- Primary completionMar 2031 (estimated)
- Study completionMar 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Inherited DiseaseStudies of the same condition, open and under way.
- More trials run by Fondazione I.R.C.C.S. Istituto Neurologico Carlo BestaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04880356
- Sponsor's protocol ID
- MaNeNeND
- Status last verified
- Nov 2026
- First submitted
- 19 Apr 2021
- Last updated
- 6 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Benzoni 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.
PubMed 41667276Moscatelli 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.
PubMed 37782421
Study at a glance
From the registry record, last updated by the sponsor on 6 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical, Instrumental and Laboratory Data Collection of Subjects With Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
- ClinicalTrials.gov ID
- NCT04880356
- Acronym / sponsor ID
- MaNeNeND
- Conditions
- Inherited Disease, Rare Diseases, Metabolic Disease, Undiagnosed Disease, Neurologic Disorder, Neuro-Degenerative Disease
- Keywords
- Leukodystrophies,, Adrenoleukodystrophy,, Metachromatic leukodystrophy,, Krabbe disease,, Vanishing White Matter Syndrome,, Alexander disease,, Hereditary Leukodystrophy with Spheroids (CSF1R-related HLDS),, Nasu-Hakola disease (TREM2- and TYROBP-related disease)
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo BestaUniversity, hospital or other
- Study start
- 1 Mar 2021 (actual)
- Primary completion
- Mar 2031 (estimated)
- Study completion
- Mar 2031 (estimated)
- First posted
- 10 May 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
The study provides a collection of retrospective data from adult patients with ultra-rare inherited neurological diseases followed at "Carlo Besta" Neurological Institute from 1st January 2004 until March 2021. Further, prospective data will be collected starting from March 2021 (date of protocol approval) and spanning the next ten years. Normal clinical practice will be followed for collection of the prospective data. Follow-up assessment will be performed at least once a year to evaluate the disease course. Based on their clinical manifestations, patients will be assessed by using quantitative functional tests (clinimetric tests such as Timed Up and Go Test) and traditional ordinal scales (such as the scale for the assessment and rating of ataxia (SARA). Moreover, a varying of laboratory and instrumental tests (e.g., neuroimaging, neurophysiological investigations, etc.) will be used according to clinical practice in selected patients.
Study design
- Observational model
- Other
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Retrospective study | – | Other: collection of datacollection of retrospective data from adult patients with ultra-rare inherited neurological diseases |
| Prospective study | – | Other: collection of dataprospective data will be collected starting from March 2021 (date of protocol approval) and spanning the next ten years |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Adults with ultra-rare inherited degenerative and metabolic neurological diseases Adults with undiagnosed neurological diseases (when supposed to be inherited)
Key inclusion criteria (3 listed)
- Age >= 18 years
- Subjects with ultra-rare inherited degenerative and metabolic neurological diseases
- Subjects with undiagnosed neurological diseases (when supposed to be inherited)
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| collection of datacollection of retrospective and prospective data from adult patients with ultra-rare inherited neurological diseases | Other | Prospective study, Retrospective study |
Primary outcome
Verbal (letter) fluency
Time frame: 10 years
Repeated Montreal Cognitive Assessment (MoCA) letter F fluency subtest
Stance and gait performances [Time Frame: 10 years] Stance and gait performances
Time frame: 10 years
Repeated SARA (Scale for the Assessment and Rating Ataxia) stance subtask, ambulation index (AI) and Timed Up and Go (TUG) test
Upper limb motor function
Time frame: 10 years
Repeated ONLS (Overall Neuropathy Limitation Scale) arm scale
Swallowing function (dysphagia)
Time frame: 10 years
Repeated NP-C mDRS (Niemann-Pick type C modified disability rating scale) swallowing scale
Speech function (dysarthria)
Time frame: 10 years
Repeated NP-C mDRS language scale
Bladder function
Time frame: 10 years
Repeated AADS (Adult Adrenoleukodystrophy Disability Score) Bladder function scale
Sleep
Time frame: 10 years
Repeated assessment of presence or absence of sleep disturbances
Quality of life
Time frame: 10 years
Repeated EuroQol-5D-5L (EQ-5D-5L) questionnaire
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Nov 2026.
- Derived from this study: PubMed 41667276Benzoni 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.
- Derived from this study: PubMed 37782421Moscatelli 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.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inherited Disease and Rare Diseases, run by Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ettore Salsano, MD (+39022394 ext. 3001, ettore.salsano@istituto-besta.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Verbal (letter) fluency (time frame: 10 years). The study lists 8 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04880356, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Nov 2026.