By Rafael Sierra, Executive Director, Global Medical Affairs – Global Gene Therapy Lead

Rare and ultra rare diseases present unique challenges for research and healthcare, especially when patients are geographically dispersed, and the condition presents with high heterogeneity. Disease registries have emerged as a valuable tool to continue understanding the disease progression and the natural history of these rare conditions in the real world. Such is the case for aromatic L-amino acid decarboxylase (AADC) deficiency, a condition characterized by impaired production of dopamine and serotonin, that will manifest in the form of impaired motor, cognitive, and language development and with autonomic dysfunction features. Registries, like AADCAware, promote data sharing and standardization of research practices across institutions and countries.

For example, a poster presentation presented at the European Paediatric Neurology Society (EPNS) Congress this summer, led by Prof. Agathe Roubertie et al. about AADCAware, highlighted the differences across the globe on how diagnostic tests are being utilized and the symptoms observed by clinicians when they suspect and diagnose the disease. Research showed that over 80% of all patients with AADC deficiency did not achieve any motor milestones, such as holding their head, when they were diagnosed between the age of two-three years old, underscoring the need to identify and manage patients earlier in the patient journey.

Caregivers play a critical role in managing patients with rare diseases. Disease registries offer caregivers access to accurate, up-to-date information, educational materials and support networks. This empowers them to better understand the disease, provide optimal care and navigate the healthcare system more effectively.

Registries also contribute to health economic evaluations by capturing data on healthcare resource utilization, costs, outcomes and quality of life. This information helps assess the economic burden of rare diseases, evaluate the cost-effectiveness of treatments and inform reimbursement decisions.

Participation in registries also enables researchers to monitor the efficacy and safety of treatments in the real world.

In conclusion, rare disease and treatment registries like AADCAware can significantly benefit research efforts by providing a centralized repository of patient data, supporting natural history studies, treatment evaluations, foster collaborative research, biomarker identification and raise disease awareness. By facilitating data-driven research and fostering collaboration, we hope that this type of registry leads to improved diagnosis, treatment and quality of life of patients living with this rare disorder.