ClinicalTrials.gov record NCT04880356

Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

Age18 years old and older

SexAll

LocationItaly

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational study gathers past and ongoing clinical, laboratory and imaging data on adults with ultra-rare inherited metabolic and degenerative neurological diseases. It combines retrospective records (from Jan 1, 2004 to March 2021) with prospective data collection starting March 2021 and continuing up to ten years. Follow-up assessments are performed at least once a year during routine clinical care and include functional tests, questionnaires, and selected lab or instrumental exams as clinically needed.

What it is studying. The study aims to improve clinical knowledge by systematically collecting longitudinal clinical, laboratory and instrumental data to describe the course of ultra-rare inherited metabolic and degenerative neurological diseases in adults, including repeated measures of cognition, stance and gait, upper-limb motor function, swallowing, speech, bladder function, sleep and quality of life.

What the researchers hope to learn. To build a longitudinal dataset that improves understanding of disease progression and functional outcomes in adults with ultra-rare inherited metabolic and degenerative neurological diseases.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other: collection of data

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

The study collects existing medical records (retrospective data) and, for prospective participation, follows patients for up to ten years with at least annual assessments. Follow-up uses routine clinical visits and may include standardized functional tests (for example Timed Up and Go, SARA), repeated questionnaires on quality of life (EQ-5D-5L), and laboratory or instrumental tests such as neuroimaging and neurophysiological investigations as ordered in normal care. Participation centers on allowing collection of clinical, laboratory and instrumental data; the record does not list additional experimental procedures.

How the study is structured. Observational study with two parts: a retrospective review of records from Jan 1, 2004 to March 2021, and a prospective follow-up cohort starting March 2021 for up to ten years. Prospective data are collected during usual clinical visits at least annually and may include quantitative functional tests (for example Timed Up and Go and SARA), questionnaires (EQ-5D-5L), neuroimaging, neurophysiology and other tests as clinically indicated.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The listed sites are in Italy. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

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This trial is also listed on this site under Krabbe disease.

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Important dates

Study start: Mar 1, 2021
Primary completion: March 2031 (estimated)
Study completion: March 2031 (estimated)
Target enrollment: 100 participants (estimated)
Last updated on registry: Nov 19, 2024
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Ettore Salsano, MD 📞 +39022394 ext. 3001 ✉ ettore.salsano@istituto-besta.it
Renato Mantegazza, MD 📞 +39022394 ext. 2321 ✉ crc@istituto-besta.it

Participating sites (1)

Fondazione IRCCS Istituto Neurologico Carlo BestaRecruiting
Milan, Milano, 20133 · Italy
- Elena Mauro, MD · +39022394 ext. 2388 · elena.mauro@istituto-besta.it
- Ettore Salsano, MD

Terms used on this page · explanations by MedicalUpdates.ai

Inclusion Criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
Follow-up: The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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