Better Health, Brighter Future
Rare Diseases
We are committed to activating meaningful change for the rare disease communities we serve.
We work tirelessly to support patients on their journey by improving the standard of care, accelerating time to diagnosis and breaking down barriers with value-driven partners to increase equitable access to healthcare – because rare disease patients and their caregivers deserve answers and a path forward to a brighter future.
Driven by our patient-focused mission, we aim to deliver life-transforming medicines for difficult-to-diagnose rare diseases with high-unmet need across our hereditary angioedema (HAE), hematology, lysosomal storage disorders (LSD), transplant, plasma-derived therapies, neuroscience, gastrointestinal and inflammation portfolios. Improving patient outcomes is at the core of what we do, and why we're focused on clinical studies, programs and services to support the rare disease community.
There are more than 7,000 rare diseases, with new conditions discovered every year.1,2,3
Less than 10% of known rare diseases have an FDA-approved treatment available.4
Hematology
We are well-prepared to meet patients’ needs today and in the future, as we pursue advancements for people with blood and bleeding disorders. We have worked alongside the hematology community for more than 70 years, and together, we seek innovative ways to improve the standard of care, including early diagnosis, protection against bleeds and personalized care.
Disease Areas
- Hemophilia
- Von Willebrand Disease
- Thrombotic Thrombocytopenic Purpura
- Sickle Cell Disease
Hereditary Angioedema (HAE)
Underscored by decades of innovation and legacy in advancing treatment options for people living with HAE, we’re dedicated to partnering with the community through each step of their journey. Our portfolio contains prophylactic and acute treatment options to help patients prevent and manage HAE attacks. HAE can be debilitating for patients and their families and we’re working relentlessly to address the unmet needs of those affected, including young children, through advancing treatment options and raising awareness for the importance of disease management.
Lysosomal Storage Disorders (LSD)
Our strong legacy in LSD is guided by our patient-first approach, ensuring each patient we serve is valued and supported during their journey. We understand the importance of a timely and accurate diagnosis, and are committed to supporting the diagnostic journey and increasing equitable access to care. Because symptoms can vary and progress differently from person to person, we aim to empower patients, HCPs, caregivers and impacted communities with comprehensive support and resources to meet their evolving needs.
Disease Areas
- Hunter Syndrome
- Gaucher Disease
- Pompe Disease
Post-Transplant Cytomegalovirus (CMV)
Our unwavering commitment to the transplant community is backed by our deep understanding of the complexities of post-transplant CMV infection treatment. We are dedicated to supporting endeavors in post-transplant care and seek to translate the community’s needs into science that helps CMV patients preserve and improve life after transplant.
Related Content
References
1. Rare Disease Database. National Organization for Rare Disorders [Internet; cited February 2024]. Available from: https://rarediseases.org/rare-diseases/
2. Bogart, K. R., & Irvin, V. L. (2017). Health-related quality of life among adults with diverse rare disorders. Orphanet Journal of Rare Diseases, 12(1). https://doi.org/10.1186/s13023-017-0730-1
3. Lamoreaux, K., Lefebvre, S., Levine, D.S., E. A. (2022) The Power of Being Counted. RareX, 6(1). https://rare-x.org/wp-content/uploads/2022/05/be-counted-052722-WEB.pdf
4. U.S. Food & Drug Administration, Rare Disease Cures Accelerator. [Internet; cited February 2024]. Available from: https://www.fda.gov/drugs/regulatory-science-research-and-education/rare-disease-cures-accelerator
5. About us. EveryLife Foundation for Rare Diseases. [Internet; cited February 2024]. https://everylifefoundation.org/about-us/
6. Rare Diseases. Barriers to rare disease diagnosis, care and treatment in the US: A 30-Year Comparative Analysis [Internet; cited February 2024]. https://rarediseases.org/wp-content/uploads/2022/10/NRD-2088-Barriers-30-Yr-Survey-Report_FNL-2.pdf
7. Busse PJ, et al, (2020). US HAEA Medical Advisory Board 2020 Guidelines for the Management of Hereditary Angioedema, The Journal of Allergy and Clinical Immunology: In Practice. https://www.haea.org/assets/img/TreatmentGuidelines040321.pdf
8. Bleeding Disorders Awareness Month. National Bleeding Disorders Foundation (Formerly NHF). [Internet; cited February 2024]. https://www.hemophilia.org/give/join-us/bleeding-disorders-awareness-month
9. von Willebrand Disease data from the HTC Population Profile. Centers for Disease Control and Prevention (CDC) Community Counts. [Internet; cited February 2024]. https://www.cdc.gov/ncbddd/hemophilia/communitycounts/data-reports/2023-9/table-3-vwd.html
10. Gaucher Disease. National Organization for Rare Disease. [Internet; cited February 2024]. https://rarediseases.org/rare-diseases/gaucher-disease/#disease-overview-main
11. Celik, B., et al, (2021). Epidemiology of Mucopolysaccharidoses Update, Multidisciplinary Digital Publishing Institute (MDPI). https://www.mdpi.com/2075-4418/11/2/273
12. Hunter Syndrome. Project Alive. [Internet; cited February 2024]. https://projectalive.org/hunter-syndrome/
13. Stoller, J. K., & Brantly, M. (2013). The Challenge of Detecting Alpha-1 Antitrypsin Deficiency. Journal of Chronic Obstructive Pulmonary Disease, 10(1). https://doi.org/10.3109/15412555.2013.763782
14. Boyle, J. M., & Buckley, R. H., (2007). Population Prevalence of Diagnosed Primary Immunodeficiency Diseases in the United States. Journal of Clinical Immunology, 27 (6). https://doi.org/10.1007/s10875-007-9103-1
15. U.S. and World Population Clock. Census.Gov [Internet; cited 2022] https://www.census.gov/popclock/embed.php?component=popondate&date=20220522
16. Voice of the Patient, Chronic Inflammatory Demyelinating Polyneuropathy. GBS| CIDP Foundation. [Internet; cited February 2024] https://www.gbs-cidp.org/wp-content/uploads/2022/08/GBSCIDP-Voice-of-the-Patient-Report_Final.pdf
17. Vlam, L. et al. (2011). Multifocal motor neuropathy: diagnosis, pathogenesis and treatment strategies. Natural Reviews Neurology 8(10). https://www.nature.com/articles/nrneurol.2011.175
18. Meuth, S., & Kleinschnitz, C. (2010). Multifocal Motor Neuropathy: Update on Clinical Characteristics, Pathophysiological Concepts and Therapeutic Options. European Neurology 63(11). https://karger.com/ene/article-pdf/63/4/193/2721167/000282734.pdf
19. Short Bowel Syndrome and Crohn’s Disease. Crohn’s & Colitis Foundation. [Internet; cited February 2024]. https://www.crohnscolitisfoundation.org/sites/default/files/legacy/assets/pdfs/short-bowel-disease-crohns.pdf
20. O’Shea, K., et al. (2017). Pathophysiology of Eosinophilic Esophagitis. Gastroenterology. https://www.gastrojournal.org/action/showPdf?pii=S0016-5085%2817%2935952-8