TY - JOUR
T1 - 271st ENMC international workshop
T2 - Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands
AU - Pennuto, M
AU - Pradat, P F
AU - Sorarù, G
AU - Greensmith, L
AU - KD Consortium
N1 - 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 - Humans
KW - Bulbo-Spinal Atrophy, X-Linked/therapy
KW - Netherlands
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
M3 - Journal article
C2 - 38552412
SN - 0960-8966
VL - 38
SP - 8
EP - 19
JO - Neuromuscular disorders : NMD
JF - Neuromuscular disorders : NMD
ER -