Gaucher disease is a progressive, chronic, inherited genetic disorder that belongs to a family of diseases known as lysosomal storage disorders. These metabolic diseases are characterized by the buildup of toxic materials in the cells of the body. Although Gaucher disease is the most prevalent of these disorders, it is nevertheless considered a rare disease, occurring in only 6,000 persons nationwide. Patients with Gaucher disease lack sufficient levels of the enzyme glucocerebrosidase, which results in the accumulation of lipids in bones and organs. This lipid accumulation results in weak or deformed bones and causes the affected organs to enlarge, preventing them from functioning properly.
Typical of a majority of rare diseases, no national screening programs for Gaucher disease exist, and therefore, a diagnosis often is not made until the disorder becomes severe. Only about half of patients with Gaucher disease type 1 are diagnosed during childhood. Early diagnosis is important because it may make managing disease progression easier and help improve patients’ quality of life. We are seeing a trend toward an increase in newborn screening for Gaucher disease, which will hopefully aid in diagnosing and treating this disease earlier and more effectively.
At Connexion Healthcare, we are experts in communicating the science behind rare diseases. We work to increase the awareness of healthcare professionals and the public about rare disorders and potential treatments.
People with Gaucher disease type 1 may have mild to severe symptoms that first begin at any time from infancy to adulthood. Most patients experience fatigue, anemia, easy bruising and bleeding resulting from decreased platelets in the blood, nosebleeds, bone problems (ie, pain, fractures, infarctions, and osteoporosis due to reduced blood flow to bones), and an enlarged spleen or liver.
In the past, patients received only supportive care for Gaucher disease, meaning that their symptoms were managed by pain reduction therapies, blood transfusions, orthopedic surgery for bones and joints, and surgery to remove the spleen. Currently, five drugs are approved by various regulatory authorities worldwide for use in routine clinical practice to treat Gaucher disease type 1, and one drug for type 3. Still, supportive care is an important aspect of disease management, because it helps to ease symptoms and improves quality of life. To help the 6,000 Americans living with this disease, treatment centers have been established throughout the United States where patients can be evaluated and monitored comprehensively.
Join Connexion Healthcare in helping to raise awareness about this rare disease.
National Gaucher Foundation
National Organization for Rare Disorders (NORD)
About the Connexion Healthcare Rare Disease Center of Excellence
Connexion Healthcare is a full-service global provider of strategic medical and scientific communications with decades of experience providing exceptional service to the pharmaceutical industry. We provide services through 2 Centers of Excellence—Oncology and Rare Disease—and possess core expertise in these therapeutic areas and their marketplaces.
The Connexion Healthcare Rare Disease Center of Excellence specializes in communicating the science behind rare diseases and orphan drugs. We strategically partner with industry leaders in the rare disease community to proactively connect all stakeholders in launching products to underserved patient populations. Our team comprises skilled communications experts who plan, develop, and disseminate scientific communications based on their advanced knowledge of the science, the patient journey, healthcare providers, and the orphan drug approval process.
At Connexion Healthcare, our cross-functional teams navigate complicated treatment and market landscapes by elucidating the appropriate pathways to brand success. We understand how brand strategy drives market share. Since launching its dedicated Rare Disease Center of Excellence, Connexion Healthcare has developed prelaunch, launch, and postlaunch communications in numerous rare diseases and disorders: congenital and genetic, movement, metabolic, and lysosomal storage disorders; lung, blood, skin, and endocrine diseases; and rare cancers.
For further information regarding the Rare Disease Center of Excellence at Connexion Healthcare and how we can develop rare disease communications to differentiate therapies by their unique attributes, contact:
Susan Stein, MPH
Rare Disease Center of Excellence