271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands

Neuromuscul Disord. 2024 May:38:8-19. doi: 10.1016/j.nmd.2024.03.003. Epub 2024 Mar 11.

Abstract

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.

Keywords: Androgen receptor; Clinical trials; ENMC; Kennedy disease; Patient registry; SBMA.

Publication types

  • Congress
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bulbo-Spinal Atrophy, X-Linked* / diagnosis
  • Bulbo-Spinal Atrophy, X-Linked* / genetics
  • Bulbo-Spinal Atrophy, X-Linked* / therapy
  • Humans
  • Netherlands