Hypersomnia means excessive sleepiness and sleeping, when the person struggles to stay awake during the day and has great difficulty being awakened from sleep. When there is no clear cause, this condition is called idiopathic hypersomnia (IH). Narcolepsy is a rare long-term brain disorder that causes a person to suddenly fall asleep at inappropriate times. Sometimes narcolepsy is associated with temporary loss of muscle control that causes weakness and possible collapse (cataplexy). This type of narcolepsy is called Type 1 narcolepsy. When narcolepsy is not associated with cataplexy is called type 2 narcolepsy. Narcolepsy and IH are very similar conditions.
Pentetrazol is a medicinal product that is being developed for the treatment of IH and narcolepsy type 2. Pentetrazol is administered orally and it acts by blocking the effect of a chemical substance called Gamma-Aminobutyric Acid (GABA). GABA is thought to play a role in promoting sleeping and is believed to be elevated in people with IH. If licensed, Pentetrazol will offer a new treatment option for patients with IH or narcolepsy type 2.
AVXS-101 is a gene replacement therapy, made of a virus that has been modified to contain the primary gene for the SMN protein, which is lacking (or mutated) in patients with SMA. When injected into the patient, the virus is expected to carry the gene into the nerve cells, enabling them to start producing sufficient amounts of SMN. This is expected to improve the survival and function of the motor neurons, and so preserve muscle function. AVXS-101 is thought to address the root cause of SMA and therefore, if licensed, may offer an additional treatment option for patients with spinal muscular atrophy.