"Questcor has an ongoing commitment to CNF and the entire infantile spasms community," said
Dr. Paciorkowski, whose application was reviewed by 10 of the nation's top child neurologists and then selected by the CNF Board of Directors, said he is focusing on genetic research related to infantile spasms.
"From the first English description by Dr.
He continued, "The Infantile Spasms Registry & Genetic Studies starts with the hypothesis that clearer understanding of the causes of infantile spasms should one day lead to the development of more effective therapies. In many patients, infantile spasms are due to mutations in genes that are important for patterning of the developing brain. From this observation, other genes that also cause infantile spasms may be 'neighbors' in the genetic blueprints that direct development of the brain. Finding these genes may lead to discovery of genetic pathways that in the future may be treatable with medicines — and help stop seizures sooner and with fewer side-effects. Using bioinformatics combined with next-generation sequencing, this work proposes to identify new genes and new pathways involved in infantile spasms. We have put together a highly collaborative international team of child neurologists, geneticists, and epilepsy experts. Our goal is to improve the care of children with infantile spasms by increasing the knowledge of the biology underlying this serious form of epilepsy."
Infantile Spasms is a severe, ultra-rare form of epilepsy that affects infants, with onset typically occurring during the first year of life in about 90 percent of cases. IS incidence is estimated at approximately 2,000 new cases in the U.S. per year, which can be classified as an ultra-orphan disease. For comparison, orphan disease designation pertains to diseases that affect fewer than 200,000 people. IS patients experience rapid, characteristic muscular contraction or extensions lasting one to two seconds and occurring in clusters ranging from a few spasms to more than 100 spasms per cluster. Often, in the beginning, the attacks are brief, infrequent and not typical, so it is quite common for the diagnosis to be delayed. Frequently, due to the pattern of the attacks and the cry that an infant gives during or after an attack, the attacks are sometimes initially thought to be due to colic or gastric distress.
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Questcor is a biopharmaceutical company focused on the treatment of patients with serious, difficult-to-treat autoimmune and inflammatory disorders. Our efforts are currently focused on the fields of neurology and nephrology and rheumatology, areas of medicine which have significant unmet medical needs. For more information, please visit www.questcor.com.
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