CONDITIONS WE TREAT
Understanding Rare Diseases, Every Day
We’re dedicated to delivering life-changing medicines for those with rare and devastating diseases. Our innovation begins when we understand the challenges that people living with these rare diseases and their families face every day.
Atypical Hemolytic Uremic Syndrome
aHUS is an ultra-rare genetic, chronic, potentially life-threatening disease that can progressively damage vital organs, such as the kidneys.1LEARN MORE
Generalized Myasthenia Gravis
gMG is a debilitating, chronic and progressive autoimmune neuromuscular disease that can occur at any age but most commonly begins for women before the age of 40 and men after the age of 60.2-5LEARN MORE
HPP is a genetic, chronic, progressive, and life-threatening metabolic disease in which patients experience devastating effects on multiple systems of the body, leading to debilitating or life-threatening complications.6LEARN MORE
Lysosomal Acid Lipase Deﬁciency
LAL-D is a genetic, chronic and progressive ultra-rare metabolic disease in which uncontrolled accumulation of cholesteryl esters and triglycerides may lead to multi-organ damage in infant, pediatric, and adult patients and premature death in infants.7LEARN MORE
Neurofibromatosis Type 1 Plexiform Neurofibromas
NF1 is a rare, progressive, genetic condition impacting multiple body systems characterized by benign tumors called plexiform neurofibromas (PN) that develop along nerve sheaths throughout the body.8-11 Depending on their size and location, PN can cause a range of clinical issues.12,13LEARN MORE
Neuromyelitis Optica Spectrum Disorder
NMOSD is a rare and devastating complement-mediated disorder of the central nervous system (CNS) characterized by relapses where each individual attack results in cumulative disability.14-18LEARN MORE
Paroxysmal Nocturnal Hemoglobinuria
PNH is a chronic, progressive, debilitating, and potentially life-threatening ultra-rare blood disorder characterized by complement-mediated hemolysis (destruction of red blood cells).13,14LEARN MORE
- Noris M, Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med. 2009;361(17):1676-1687.
- Huda R, Tüzün E, Christadoss P. Targeting complement system to treat myasthenia gravis. Rev Neurosci. 2014;25(4):575-583.
- Howard JF, Barohn RJ, Cutter GR, et al. A randomized, double-blind, placebo-controlled phase II study of eculizumab in patients with refractory generalized Myasthenia Gravis. Muscle Nerve. 2013;48(1):76-84.
- National Institute of Neurological Disorders and Stroke. Myasthenia Gravis Fact Sheet. http://www.ninds.nih.gov/disorders/myasthenia_gravis/detail_myasthenia_gravis.htm. Accessed October 22, 2019.
- Meriggioli MN, Sanders DB. Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity. Lancet Neurol. 2009;8(5):475-490.
- Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.
- Kanuma® [package insert]. New Haven, CT: Alexion Pharmaceuticals, Inc; 2015.
- Tonsgard JH. Clinical manifestations and management of neurofibromatosis type 1. Semin Pediatr Neurol. 2006;13(1):2-7.
- Hirbe AC, Gutmann DH. Neurofibromatosis type 1: A multidisciplinary approach to care. Lancet Neurol. 2014;13(8):834-843.
- Blakeley JO, Plotkin SR. Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. Neuro Oncol. 2016;18(5):624-638.
- Dombi E, Ardern-Holmes SL, Babovic-Vuksanovic D, et al. Recommendations for imaging tumor response in neurofibromatosis clinical trials. Neurology. 2013;81(21 Suppl 1):S33-S40.
- Korf BR, Rubenstein AE. Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals. New York, NY: Thieme Medical Publishers; 2005.
- Hersh JH. Health supervision for children with neurofibromatosis. Pediatrics. 2008;121(3):633-642.
- Wingerchuk DM. Neuromyelitis optica spectrum disorders: critical role of complement-dependent cytotoxicity. Neurology Reviews. 2017;(suppl):S1-S4.
- Mealy MA, Boscoe A, Caro J, Levy M. Assessment of patients with neuromyelitis optica spectrum disorder using the EQ-5D. Int J MS Care. 2019;21(3):129-134.
- Jarius S, Ruprecht K, Wildemann B, et al. Contrasting disease patterns in seropositive and seronegative neuromyelitis optica: a multicentre study of 175 patients. J Neuroinflammation. 2012;9:14.
- Kitley J, Leite MI, Nakashima I, et al. Prognostic factors and disease course in aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder from the United Kingdom and Japan. Brain. 2012;135(pt 6):1834-1849.
- Jiao Y, Fryer JP, Lennon VA, et al. Updated estimate of AQP4-IgG serostatus and disability outcome in neuromyelitis optica. Neurology. 2013;81(14):1197-1204.
- Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995;333(19):1253-1258.
- Kelly R, Richards S, Hillmen P, Hill A. The pathophysiology of paroxysmal nocturnal hemoglobinuria and treatment with eculizumab. Ther Clin Risk Manag. 2009;5:911-921.
Now we knew what we were up against, we knew we could fight.”REBECCA, MOM OF THE TRENDY BROTHERS LIVING WITH LAL-D