SBMA, Spinal and Bulbar Muscular Atrophy (SBMA)
Conditions
Keywords
SBMA, Kennedy Disease, International Registries, Retrospective study, Study Design
Brief summary
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.
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).
Interventions
None listed
Sponsors
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Study design
Observational model
OTHER
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Individuals affected by SBMA for whom clinical data have been historically collected by the referral centres
Exclusion criteria
* na
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Spinal and Bulbar Muscular Atrophy Functional Rating Scale (SBMAFRS) | 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. |
| Six-Minute Walk Test (6MWT) Distance | 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. |
| Age at Onset of First SBMA Symptoms | 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) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Creatine Phosphokinase (CPK) Serum Levels | 3 years | Change in serum creatine phosphokinase (CPK) levels |
| Sensory Signs and Symptoms | 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. |
| Presence of Gynecomastia | 3 years | Presence or absence of gynecomastia as assessed by clinical examination |
Countries
Italy
Contacts
PRINCIPAL_INVESTIGATORSilvia Fenu, MD
Fondazione IRCCS Istituto Neurologico Carlo Besta
Outcome results
None listed