HCU Network Australia was delighted to collaborate again with the European Network and Registry for homocystinurias and methylation defects (E-HOD) and it was a pleasure on this occasion to also partner with the Group for Health Technologies Assessment in Clinical Genetics at the Hospital de Clinicas de Porto Alegre (HTA Genetics/HCPA) to host the 2nd Homocystinurias Patient – Expert Meeting.
We were encouraged by the level of interest in the Meeting with over 150 registrants joining us throughout the programme. We welcomed patients and their families, healthcare professionals, researchers and industry for a day of interaction and informative presentations on a range of key topics. Some key learnings were summarized during the close and included early screening and diagnosis are critical for homocystinuria; prompt treatment, including dietary management, is critical to prevent clinical symptoms; dietary management is key although compliance is sometimes difficult and better options are needed to improve taste and access for patients; mental health disorders need to be recognized, and it is important to control Hcy levels to prevent or improve symptoms; and new treatments are key to improve quality of life for patients. While progress is being made for classical homocystinuria, with promising approaches in development (with one expected to start human trials in 2018), similar progress needs to be made for the cobalamin related remethylation disorders and MTHFR deficiency. Of paramount importance is there is hope; we have many committed global, national and local experts, passionate and generous patients and family members, and patient advocacy groups working towards improving outcomes through education, research and support.