Boston, MA biopharmaceutical company Zafgen, Inc., will join the National Organization for Rare Disorders (NORD) and others around the world in observing Rare Disease Day tomorrow ( February 28, 2015), by highlighting both “Prader-Willi Syndrome and Hypothalamic Injury Associated Obesity.
Prader-Willi Syndrome (PWS), the most common known genetic cause of life-threatening obesity, causes constant hunger that drives patients to gain more weight on fewer calories than the average person. As a result, many of those affected become morbidly obese before the age of five. Although the cause is complex, it results from a deletion or loss of function of a cluster of genes on the 15th chromosome. PWS typically causes low muscle mass and function, short stature, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity. The disease is found equally in both males and females in all races worldwide. According to health officials, there are approximately 5,000-7000 people suffering from Prader-Willi Syndrome in the US.
Hypothalamic Injury-Associated Obesity (HIAO) is most commonly caused by damage incurred during removal of a central nervous system tumor called craniopharyngioma but it can also result from less common types of hypothalamic injury such as strokes, brain trauma, or radiation therapy to the brain. Craniopharyngioma is a rare form of benign brain tumor that occurs most commonly during childhood and infiltrates near the optic nerve, pituitary gland and the
hypothalamus. Treatment of these tumors commonly involves surgical removal of the tumor mass, followed by radiation treatment, which results in disruption or removal of neighboring structures including the hypothalamus. Post-treatment hypothalamic dysfunction results in hyperphagia and significant obesity in up to 50% of these patients, resulting in a variety of co-morbid conditions and a deteriorated. 400-500 cases of HIAO are diagnosed in the US annually, with approximately 650-850 new cases reported each year throughout the European Union.
The theme for this year’s Rare Disease Day, “Living with a Rare Disease”, speaks to the ongoing challenges that individuals and families face including delay in diagnosis, difficulty finding a medical expert, lack of access to treatment and inability to take advantage of ancillary services.
A rare disease is defined as a condition that affects less than 200,000 patients. According to the latest figures from the National Institute of Health (NIH), rare diseases affect approximately 30 million people in America alone, 2/3 of which are children. There are more than 7,000 known rare diseases, with fewer than 400 FDA-approved treatments.
Readers can learn more about Rare Disease Day in the United States by visiting www.rarediseaseday.us. For more information about international activities, visit www.rarediseaseday.org.