The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐OlielABSTRACT
Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development. AMC requires lifelong, multidisciplinary management, a challenge compounded by their rarity and phenotypic heterogeneity. Our understanding of AMC is hampered by diagnostic delays, scarce trained specialists, and variable clinician expertise. Research networks are paramount to harmonize efforts, increase awareness, and accelerate progress toward understanding of rare conditions. Therefore, we established a consortium for AMC (IC4AMC) in 2020, a multi‐national network dedicated to improving AMC care, research, and knowledge across North America, Europe, and West Asia. IC4AMC engages a diverse group of stakeholders including clinicians, researchers, individuals with AMC, families, and support groups to better understand and address the most pressing needs in AMC care and research. In this paper, we introduced the missions and aims of the IC4AMC around four pillars of early detection, clinical care, research, and education, all embedded in two cross‐cutting principles of knowledge mobilization and community engagement. This effort will inform the development of targeted initiatives aimed at improving outcomes for rare diseases.