International SBMA Project (KDA)

NCT07443449 | Active Not Recruiting

• 1 other identifier: Linking National SBMA Database
• Study Type: observational
• Target: 700
• Locations: 1 country
• Sites: 1

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.

Conditions

SBMA; Spinal and Bulbar Muscular Atrophy (SBMA)

Keywords

SBMA; Kennedy Disease; International Registries; Retrospective study; Study Design

Outcome Measures

Primary Outcomes (3)

• Spinal and Bulbar Muscular Atrophy Functional Rating Scale (SBMAFRS)

  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

  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

  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 Outcomes (3)

• Creatine Phosphokinase (CPK) Serum Levels

  3 years

• Sensory Signs and Symptoms

  3 years

• Presence of Gynecomastia

  3 years

Eligibility Criteria

• Age: 18 Years+
• Gender Eligibility Details: Only males are affected by SBMA
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

700 SBMA affected individuals

You may qualify if:

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

Sponsors & Collaborators

• Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta: lead

Study Sites (1)

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, 20133, Italy

Location

Related Publications (27)

• Querin G, DaRe E, Martinelli I, Bello L, Bertolin C, Pareyson D, Mariotti C, Pegoraro E, Soraru G. Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure. Neurol Sci. 2016 Nov;37(11):1815-1821. doi: 10.1007/s10072-016-2666-y. Epub 2016 Jul 21.

  PMID: 27444956 BACKGROUND

• Steinmetz K, Rudic B, Borggrefe M, Muller K, Siebert R, Rottbauer W, Ludolph A, Buckert D, Rosenbohm A. J wave syndromes in patients with spinal and bulbar muscular atrophy. J Neurol. 2022 Jul;269(7):3690-3699. doi: 10.1007/s00415-022-10992-5. Epub 2022 Feb 7.

  PMID: 35132468 BACKGROUND

• Araki A, Katsuno M, Suzuki K, Banno H, Suga N, Hashizume A, Mano T, Hijikata Y, Nakatsuji H, Watanabe H, Yamamoto M, Makiyama T, Ohno S, Fukuyama M, Morimoto S, Horie M, Sobue G. Brugada syndrome in spinal and bulbar muscular atrophy. Neurology. 2014 May 20;82(20):1813-21. doi: 10.1212/WNL.0000000000000434. Epub 2014 Apr 23.

  PMID: 24759840 BACKGROUND

• Koutsis G, Kladi A, Breza M, Karadima G, Panas M. Spinobulbar muscular atrophy (Kennedy's disease): A rare diagnosis in the Greek population. J Neurol Sci. 2015 Dec 15;359(1-2):450-1. doi: 10.1016/j.jns.2015.10.021. Epub 2015 Oct 21. No abstract available.

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• Cho HJ, Shin JH, Park YE, Sohn E, Nam TS, Kang MG, Park JM, Park D, Park JS. Characteristics of spinal and bulbar muscular atrophy in South Korea: a cross-sectional study of 157 patients. Brain. 2023 Mar 1;146(3):1083-1092. doi: 10.1093/brain/awac198.

  PMID: 35639850 BACKGROUND

• Atsuta N, Watanabe H, Ito M, Banno H, Suzuki K, Katsuno M, Tanaka F, Tamakoshi A, Sobue G. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain. 2006 Jun;129(Pt 6):1446-55. doi: 10.1093/brain/awl096. Epub 2006 Apr 18.

  PMID: 16621916 BACKGROUND

• Fratta P, Nirmalananthan N, Masset L, Skorupinska I, Collins T, Cortese A, Pemble S, Malaspina A, Fisher EM, Greensmith L, Hanna MG. Correlation of clinical and molecular features in spinal bulbar muscular atrophy. Neurology. 2014 Jun 10;82(23):2077-84. doi: 10.1212/WNL.0000000000000507. Epub 2014 May 9.

  PMID: 24814851 BACKGROUND

• Rosen RC, Cappelleri JC, Smith MD, Lipsky J, Pena BM. Development and evaluation of an abridged, 5-item version of the International Index of Erectile Function (IIEF-5) as a diagnostic tool for erectile dysfunction. Int J Impot Res. 1999 Dec;11(6):319-26. doi: 10.1038/sj.ijir.3900472.

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• Harris-Love MO, Fernandez-Rhodes L, Joe G, Shrader JA, Kokkinis A, La Pean Kirschner A, Auh S, Chen C, Li L, Levy E, Davenport TE, Di Prospero NA, Fischbeck KH. Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment tool. Rehabil Res Pract. 2014;2014:873872. doi: 10.1155/2014/873872. Epub 2014 May 5.

  PMID: 24876969 BACKGROUND

• Hashizume A, Katsuno M, Suzuki K, Banno H, Suga N, Mano T, Araki A, Hijikata Y, Grunseich C, Kokkinis A, Hirakawa A, Watanabe H, Yamamoto M, Fischbeck KH, Sobue G. A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study. Neuromuscul Disord. 2015 Jul;25(7):554-62. doi: 10.1016/j.nmd.2015.03.008. Epub 2015 Mar 20.

  PMID: 25913211 BACKGROUND

• Takeuchi Y, Katsuno M, Banno H, Suzuki K, Kawashima M, Atsuta N, Ito M, Watanabe H, Tanaka F, Sobue G. Walking capacity evaluated by the 6-minute walk test in spinal and bulbar muscular atrophy. Muscle Nerve. 2008 Aug;38(2):964-71. doi: 10.1002/mus.21077.

  PMID: 18642379 BACKGROUND

• Pennuto M, Greensmith L, Pradat PF, Soraru G; European SBMA Consortium. 210th ENMC International Workshop: Research and clinical management of patients with spinal and bulbar muscular atrophy, 27-29 March, 2015, Naarden, The Netherlands. Neuromuscul Disord. 2015 Oct;25(10):802-12. doi: 10.1016/j.nmd.2015.06.462. Epub 2015 Jun 19. No abstract available.

  PMID: 26206601 BACKGROUND

• Ambrosini A, Calabrese D, Avato FM, Catania F, Cavaletti G, Pera MC, Toscano A, Vita G, Monaco L, Pareyson D. The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage. Orphanet J Rare Dis. 2018 Oct 4;13(1):176. doi: 10.1186/s13023-018-0918-z.

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• Querin G, Bertolin C, Da Re E, Volpe M, Zara G, Pegoraro E, Caretta N, Foresta C, Silvano M, Corrado D, Iafrate M, Angelini L, Sartori L, Pennuto M, Gaiani A, Bello L, Semplicini C, Pareyson D, Silani V, Ermani M, Ferlin A, Soraru G; Italian Study Group on Kennedy's disease. Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients. J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):810-6. doi: 10.1136/jnnp-2015-311305. Epub 2015 Oct 26.

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• Pareyson D, Fratta P, Pradat PF, Soraru G, Finsterer J, Vissing J, Jokela ME, Udd B, Ludolph AC, Sagnelli A, Weydt P. Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy. J Mol Neurosci. 2016 Mar;58(3):394-400. doi: 10.1007/s12031-015-0704-5. Epub 2016 Jan 7.

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• Weydt P, Sagnelli A, Rosenbohm A, Fratta P, Pradat PF, Ludolph AC, Pareyson D. Clinical Trials in Spinal and Bulbar Muscular Atrophy-Past, Present, and Future. J Mol Neurosci. 2016 Mar;58(3):379-87. doi: 10.1007/s12031-015-0682-7. Epub 2015 Nov 14.

  PMID: 26572537 BACKGROUND

• Schmidt BJ, Greenberg CR, Allingham-Hawkins DJ, Spriggs EL. Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology. 2002 Sep 10;59(5):770-2. doi: 10.1212/wnl.59.5.770.

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• Hashizume A, Fischbeck KH, Pennuto M, Fratta P, Katsuno M. Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA). J Neurol Neurosurg Psychiatry. 2020 Oct;91(10):1085-1091. doi: 10.1136/jnnp-2020-322949.

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• Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean A, Chen C, Lehky TJ, Shrader JA, Levy EW, Harris-Love M, Di Prospero NA, Fischbeck KH. Clinical features of spinal and bulbar muscular atrophy. Brain. 2009 Dec;132(Pt 12):3242-51. doi: 10.1093/brain/awp258.

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• Soraru G, D'Ascenzo C, Polo A, Palmieri A, Baggio L, Vergani L, Gellera C, Moretto G, Pegoraro E, Angelini C. Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci. 2008 Jan 15;264(1-2):100-5. doi: 10.1016/j.jns.2007.08.012. Epub 2007 Sep 12.

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MeSH Terms

Conditions

Bulbo-Spinal Atrophy, X-Linked

Condition Hierarchy (Ancestors)

Muscular Atrophy, Spinal; Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Motor Neuron Disease; Neuromuscular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Silvia Fenu, MD

  Fondazione IRCCS Istituto Neurologico Carlo Besta

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 6, 2026
• First Posted: March 2, 2026
• Study Start: July 29, 2024
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: March 2, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)