RARE DISEASES CLINICAL RESEARCH NETWORK
Initiation of a cohort to define pathogenic Mechanisms, Precision diagnosis And Complications of Thrombotic Microangiopathies: The IMPACT Study |  |
Enhancing research and improving care for people living with thrombotic microangiopathies (TMAs), a group of rare blood disorders characterized by low platelets (thrombocytopenia), destruction of red blood cells (microangiopathic hemolysis), and organ injury due to abnormal clotting (microvascular thrombosis) and restricted blood flow. | |
Principal Investigators
Johns Hopkins University
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NUMBERS
TOP PUBLICATION
JOURNAL: Research and Practice in Thrombosis and Haemostasis
Congenital thrombotic thrombocytopenic purpura (cTTP) is a disorder in which blood clots form in the small blood vessels throughout the body. cTTP is caused by mutations in the ADAMTS13 gene, leading to microvascular thrombosis (abnormal clotting), hemolytic anemia (destruction of red blood cells), and organ damage.
In this review, researchers summarize the clinical course, complications, and advances in treatment of cTTP. The team reviewed registry data, clinical studies, expert guidelines, and real-world patient experiences, including pregnancy management.
Results suggest that recombinant ADAMTS13, a therapy that helps restore the ADAMTS13 enzyme, is more effective, safe, and convenient than the standard plasma therapy. Authors note that although recombinant ADAMTS13 represents a major advance in cTTP management, more studies are needed to evaluate its long-term safety, particularly during pregnancy, and to optimize treatment strategies.
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.