SAN DIEGO, CA--(Marketwired - Jul 17, 2013) - La Jolla Pharmaceutical Company (OTCBB: LJPC) ("La Jolla" and "Company"), a leader in the development of therapeutics targeting life threating diseases, announced today that the FDA Office of Orphan Products Development has granted an "Orphan Drug" designation to La Jolla's drug candidate LJPC-0712 for treatment of Niemann-Pick type C disease.
"Having received a second orphan designation from FDA, our team continues to build La Jolla into a leader in the development of treatments for life threating diseases," said George Tidmarsh, MD, PhD, President and Chief Executive Officer of La Jolla. "We remain dedicated to developing novel treatments to help those suffering with unmet debilitating and fatal diseases."
Niemann-Pick type C disease (NP-C) is a rare inherited disease caused by mutations in either the NPC1 (95% of cases) or of the NPC2 gene. These mutations lead to impaired intracellular lipid trafficking with subsequent accumulation of cholesterol and glycosphingolipids in the brain and other tissues. Patients come to medical attention with a range of symptoms, neurologic signs, age of onset and rate of progression. Characteristic neurological manifestations include abnormal eye movements, unbalanced gait, abnormal speech, or difficulty swallowing. Epileptic seizures are also common. Typically, onset occurs in childhood, however adults are increasingly being diagnosed with late onset neurologic symptoms or psychiatric manifestations. The age of onset of neurologic symptoms is used to categorize patients and can be useful in evaluation and treatment planning. In general, patients diagnosed earlier in age progress more rapidly and have a shorter survival than those diagnosed later in life. Patients with NP-C have an estimated median survival of less than 20 years.
LJPC-0712 is commonly known as allopregnanolone. Allopregnanolone is a neurosteroid present in the blood and brain. It is a metabolite of progesterone and potent modulator of gamma-aminobutyric acid (GABAA) receptors. It increases the activity of endogenous GABA by allosteric modification of the GABAA receptor. Allopregnanolone has pharmacological properties similar to other positive modulators of GABAA receptors, including anti-anxiety and anti-seizure activity.
Allopregnanolone is synthesized from cholesterol and due to disrupted cholesterol biosynthesis levels are altered in NP-C. Because allopregnanolone and related steroid hormones promote neuron health and development, reduced levels of allopregnanolone in NP-C likely contribute to the neurologic deterioration associated with NP-C. End-product replacement therapy targets the final products of a metabolic pathway that are deficient in a disease state. Therefore, replacement therapy with allopregnanolone represents a potential treatment for NP-C. Treatment of animals genetically modified to replicate NP-C with allopregnanolone supports this theory with treated animals showing improvement in many disease characteristics.