International SBMA Project (KDA) (KDA)

February 27, 2026 updated by: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Connecting SBMA National Registries/Databases: a Retrospective Study

This project aims at: connecting the existing registries and databases across different countries by comparing the information collected, the administered scales, the biochemical investigations performed; performing a common analysis of fully anonymized data collected in the existing registries and databases by researchers adhering to the study to obtain cross-sectional and longitudinal data. Centres from the following countries have accepted the invitation to join Italy in this project: UK, US, Japan, France, Germany, Korea, Finland, Greece, Canada, Turkey.

Study Overview

Status

Active, not recruiting

Conditions

Detailed Description

Several groups have collected important data over the years on different national series of SBMA affected subjects in national databases and registries. Such data on hundreds of patients represent an invaluable collection of information that can be pooled together to gain broad knowledge of the disease. Both baseline and follow up data have been collected, thus potentially allowing either a cross-sectional analysis and a longitudinal study on disease progression. Therefore, we propose a retrospective study collating together data from the different populations into a very large international series. Such study would allow a better understanding of the clinical and laboratory characteristics of the disease, a comparison of the disease across different countries, and an analysis of the evolution of the disease according to the different outcome measures along the years. In the preliminary study preparation, we have collected the adhesion of centres from UK, US, Japan, France, Korea, Germany, Finland, Greece, Canada and Turkey. We have also compared the information that every centre collects. We have subsequently prepared a list of items (clinical history, milestones, symptoms and signs, laboratory data) to be filled by each centre with the help of the coordinating centre in Milan and sent back to Milan for centralized analysis. Anonymized data will be shared by the participating centres with the Milan coordinating centre. In the data analyses, we will focus on SBMA clinical and laboratory characteristics, disease course over time, responsiveness of outcome measures, differences and similarities between populations. Based on the updated adhesions to the current project, we will be able to collect and analyze data on about 700 SBMA patients overall, in a both cross-sectional and longitudinal retrospective study. Such project, with the largest SBMA cohort ever analyzed, will result in an increased knowledge on the characteristics and phenotype of the disease. It will improve clinical trial readiness and will be useful for future clinical trials.

Collaborators for this project are the following: Azienda Ospedale-Università di Padova (Dr Sorarù); Centro clinico NEMO Adulti, Roma (Dr Amelia Conte/Dr Mario Sabatelli); MRC Centre for Neuromuscular Disease UCL Institute of Neurology, London (Dr Pietro Fratta); Department of Neurology, Kyungpook National University Chilgok Hospital Daegu, Republic of Korea (Dr Jin-Sung Park); Hôpital Pitié-Salpêtrière, Paris, France (Dr Pierre-François Pradat, Giorgia Querin); Inherited Neuromuscolar Diseases Unit, Bethesda MD, USA (Christopher Grunseich, Dr Kenneth Fischbeck); Nagoya University Graduate School of Medicine, Department of Neurology, Nagoya Japan (Dr. Masahisa Katsuno); Department of Neurodegenerative Diseases and Gerontopsychiatry, University of Bonn, Germany (Dr Patrick Weydt); Neuromuscular Research Center, Tampere University, Finland (Dr Manu Jokela and Johanna Palmio); Neurogenetics Unit, Department of Neurology, National and Kapodistrian University of Athens, Greece (Dr Georgios Koutsis); Hotchkiss Brain Institute, Department of Clinical Neurosciences, University of Calgary, Alberta, Canada (Dr Gerald Pfeffer); Department of Neurology, Istanbul Faculty of Medicine, Turkey (Dr Yesim Parman and Arman Cakar).

Study Type

Observational

Enrollment (Actual)

700

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Italy
      • Milan, Italy, 20133
        • Fondazione IRCCS Istituto Neurologico Carlo Besta

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

700 SBMA affected individuals

Description

Inclusion Criteria:

  • Individuals affected by SBMA for whom clinical data have been historically collected by the referral centres

Exclusion Criteria:

  • na

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Spinal and Bulbar Muscular Atrophy Functional Rating Scale (SBMAFRS)
Time Frame: 3 years
Change in total score of the Spinal and Bulbar Muscular Atrophy Functional Rating Scale (SBMAFRS), a disease-specific functional scale assessing bulbar, spinal, trunk, and respiratory function. The SBMAFRS total score ranges from 0 to 56 points. Higher scores indicate better functional status.
3 years
Six-Minute Walk Test (6MWT) Distance
Time Frame: 3 years
Change in distance walked during the Six-Minute Walk Test (6MWT). The 6MWT measures the total distance (in meters) that a participant is able to walk on a flat surface in six minutes. Greater distance indicates better ambulatory and endurance capacity.
3 years
Age at Onset of First SBMA Symptoms
Time Frame: assessed once
Age (in years) at onset of first reported SBMA-related symptom (hand tremor/cramps/muscular weakness, dysarthria, dysphagia, handrail requirement, use of support/wheelchair, development of pneumonia)
assessed once

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Creatine Phosphokinase (CPK) Serum Levels
Time Frame: 3 years
Change in serum creatine phosphokinase (CPK) levels
3 years
Sensory Signs and Symptoms
Time Frame: 3 years
Presence and severity of sensory signs and symptoms assessed by clinical neurological examination (reduced vibration sense, paresthesia). Recorded as present/absent and, when applicable, graded according to standardized neurological assessment.
3 years
Presence of Gynecomastia
Time Frame: 3 years
Presence or absence of gynecomastia as assessed by clinical examination
3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Investigators

  • Principal Investigator: Silvia Fenu, MD, Fondazione IRCCS Istituto Neurologico Carlo Besta

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 29, 2024

Primary Completion (Estimated)

December 1, 2026

Study Completion (Estimated)

December 1, 2026

Study Registration Dates

First Submitted

February 6, 2026

First Submitted That Met QC Criteria

February 27, 2026

First Posted (Actual)

March 2, 2026

Study Record Updates

Last Update Posted (Actual)

March 2, 2026

Last Update Submitted That Met QC Criteria

February 27, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Linking National SBMA Database

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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