TY - JOUR
T1 - 271st ENMC international workshop
T2 - Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands
AU - KD Consortium
AU - Pennuto, M.
AU - Pradat, P. F.
AU - Sorarù, G.
AU - Greensmith, L.
AU - Basso, Manuela
AU - Bertolotti, Marco
AU - de Carvalho, Mamede
AU - Fabris, Gianni
AU - Fenu, Silvia
AU - Fratta, Pietro
AU - Fischbeck, Kenneth
AU - Greensmith, Linda
AU - Gozes, Illana
AU - Katsuno, Masahisa
AU - Malik, Bilal
AU - MacLean, Alexandra
AU - Meyertholen, Ed
AU - Pennuto, Maria
AU - Pilati, Nadia
AU - Pradat, Pierre Francois
AU - Poletti, Angelo
AU - Querin, Giorgia
AU - Rinaldi, Carlo
AU - Ronzitti, Giuseppe
AU - Salvatella, Xavier
AU - Slowe, Kim
AU - Soraru, Gianni
AU - Vissing, John
AU - Weber, Markus
AU - Weydt, Patrick
AU - Zampedri, Luca
AU - Zanovello, Matteo
AU - Zuccaro, Emanuela
N1 - Publisher Copyright:
© 2024
PY - 2024/5
Y1 - 2024/5
N2 - The workshop held in the Netherlands from October 20–22, 2023, united 27 scientists from academia, healthcare, and industry representing 11 countries, alongside four patient and charity representatives. Focused on Kennedy's Disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), the workshop aimed to consolidate knowledge, align on clinical trial designs, and promote participative medicine for effective treatments. Discussions emphasized KD's molecular mechanisms, highlighting its status as a neuromuscular disorder with motor neuron degeneration. Strategies for therapeutic intervention, including AR activity modulation and targeting post-translational modifications, were proposed. The need for diagnostic, prognostic, and target engagement biomarkers was stressed. Challenges in patient stratification and clinical trial recruitment were acknowledged, with the International KD/SBMA Registry praised for its role. The workshop concluded with a patient-focused session, underscoring challenges in KD diagnosis and the vital support provided by patient associations.
AB - The workshop held in the Netherlands from October 20–22, 2023, united 27 scientists from academia, healthcare, and industry representing 11 countries, alongside four patient and charity representatives. Focused on Kennedy's Disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), the workshop aimed to consolidate knowledge, align on clinical trial designs, and promote participative medicine for effective treatments. Discussions emphasized KD's molecular mechanisms, highlighting its status as a neuromuscular disorder with motor neuron degeneration. Strategies for therapeutic intervention, including AR activity modulation and targeting post-translational modifications, were proposed. The need for diagnostic, prognostic, and target engagement biomarkers was stressed. Challenges in patient stratification and clinical trial recruitment were acknowledged, with the International KD/SBMA Registry praised for its role. The workshop concluded with a patient-focused session, underscoring challenges in KD diagnosis and the vital support provided by patient associations.
KW - Androgen receptor
KW - Clinical trials
KW - ENMC
KW - Kennedy disease
KW - Patient registry
KW - SBMA
UR - http://www.scopus.com/inward/record.url?scp=85189448050&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2024.03.003
DO - 10.1016/j.nmd.2024.03.003
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C2 - 38552412
AN - SCOPUS:85189448050
SN - 0960-8966
VL - 38
SP - 8
EP - 19
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
ER -