National Rare Disease Day – February 28, 2023
National Rare Disease Day is observed on February 29th, the rarest day of the year, or on this year on February 28th. This year’s theme is focused on health equity. As rare diseases affect small numbers of patients, understanding the diversity of patients and how it affects presentation, diagnosis, and treatment is crucial for addressing the needs of those affected. At Clarion, we are dedicated to helping companies find and develop life-changing therapeutics for patients with rare diseases.
Many rare diseases may present or have different patient implications based on gender or genetic background. These differences can have profound differences in how diagnosis is done for people of or outside these groups and more distressingly, how the overall needs of these groups are seen and treated. This is where the theme of health equity comes in. It is vital that we recognize and address the unique needs of diverse patient groups, to ensure that everyone affected by rare disease receives the care and support they need.
At Clarion, we recognize the deep impact these differences can have all along the patient journey as well as from community and policy maker standpoints, ensuring diverse and robust samples to ensure that we build full and comprehensive value stories when looking to understand disorders. We are committed to working with companies to develop therapeutics that are tailored to these diverse groups. Connect with us to learn how we can help you today. For more information, visit www.clarionhealthcare.com and follow us on Instagram and LinkedIn.
Rare disease affecting mostly people of East Asian descent
Kawasaki disease is an acute systemic vasculitis typically affecting children under five years of age which can lead to coronary artery dilation and aneurysms and is a leading cause of acquired heart disease in the U.S. It is more common in children of East Asian origin, with rates in Japan and Korea of 100-200 per 100,000 children under five, which hold true in children of Japanese or Korean descent in the U.S. verses rates of 5-15 per 100,000 children under five in Europe.
Rare disease affecting mostly people of African descent
Sickle cell disease is an inherited rare blood disorder which results in changes to red blood cell morphology and function, and which can lead to serious problems including stroke, vision problems, infections and painful, life-threatening crises. While strides have been made, sickle cell disease is associated with significantly shortened life span. Sickle cell disease occurs in 1 in every 365 black or African American births, far higher rates than in other populations.
Rare disease which presents differently by gender
X-linked adrenoleukodystrophy is a rare disorder which affects the nervous system. It is usually more severe in males where it can manifest between the ages of four and eight, and result in cognitive, sensory and motor dysfunction resulting in vision loss, behavioral disturbances, difficulty understanding speech and poor coordination. In women, this disorder presents differently and is milder, typically appearing in adulthood and is associated with progressive paraparesis and sensory disturbances mainly in the legs.
Rare disease where treatment can differ for females
MELAS syndrome is a mitochondrial disease affecting the nervous system and muscles and is associated with recurrent episodes of stroke-like episodes, epilepsy, encephalopathy, myopathy, recurrent vomiting, hearing impairment, peripheral neuropathy, dementia, and learning disability. It is progressive and results in neurological impairment by early adulthood and a median survival time of 16.9 years post diagnosis. While both genders can be affected by MELAS syndrome, it is passed down through the maternal line. Only females have the ability to pass it on to their offspring, and if they carry the genetic mutation associated with MELAS, they will pass it on to all their children.