What was your consortium's most significant achievement from the past year?
Natalie Danish, CAP, Program Manager, IMPACT: As a new consortium, we were excited to work with the DMCC to finalize our study protocols and have started enrollment for both projects. This moves the consortium from building infrastructure to generating the prospective data and biospecimens that the TMA community has urgently needed. The studies will establish the natural history of thrombotic thrombocytopenic purpura (TTP) and complement-mediated thrombotic microangiopathy (CM-TMA), including clinically meaningful outcomes such as relapse, cardiovascular and renal disease, cognitive impairment, silent cerebral infarction, patient-reported outcomes, and quality of life.
What did this achievement accomplish?
Danish: We established the IMPACT cohort, which we hope will provide the infrastructure for meaningful research on the clinical outcomes of thrombotic microangiopathy, and targetable mechanistic insights into disease.
How will this impact the rare disease community?
Danish: IMPACT will shift the field from focusing primarily on survival from an acute thrombotic microangiopathy episode to understanding and preventing the long-term consequences of these diseases. By bringing together patients, expert clinical centers, investigators, and patient advocacy organizations around a common research infrastructure, the IMPACT consortium has the potential to accelerate meaningful discoveries, improve clinical care, and ensure that future therapies are evaluated based not only on their ability to treat acute disease, but on their ability to help patients live longer, healthier, and higher-quality lives.
How will this advance the goals of your consortium and/or the RDCRN at large?
Danish: IMPACT is designed not only to describe the burden of the rare thrombotic microangiopathies, but to identify why patients experience different outcomes and which patients may benefit from targeted interventions. The resulting longitudinal cohorts and biorepositories will create a durable research resource for the rare disease community. They will enable validation of biomarkers, identification of therapeutic targets, development of future clinical trials, and evaluation of how newly available therapies affect long-term health and quality of life; these questions have largely been beyond the scope of prior short-term, single-center studies.
