Twenty-five to 30 million patients in the United States are living with a rare disease; this staggering number underscores a simple, yet little-known fact: the incidence of rare diseases is low, but prevalence remains high.
Despite many advances made in the fight against rare diseases, gaps remain when it comes to improving patient care—for some conditions, there are no safe or effective treatments available to patients to improve their quality of life.
The US Food and Drug Administration (FDA) Office of Orphan Products Development is dedicated to advancing the evaluation and development of products—drugs, biologics, or devices—that demonstrate potential in the diagnosis and/or treatment of rare diseases.
The following is a list of recent designations granted by the FDA from this past week that is working to further expand the collective arsenal against rare diseases:
A4250 for the Treatment of Progressive Familial Intrahepatic Cholestasis (PFIC) & Alagille Syndrome
On October 17, 2018, the FDA granted Fast Track designation to Albireo Pharma, Inc.’s A4250 for the treatment of PFIC
, a rare, life-threatening liver disease. On the same day, the product was also granted an orphan drug designation for the treatment of Alagille syndrome, specifically, which is a genetic disorder known to affect the liver, heart, skeleton, eyes, and kidneys.
“A4250 is a highly potent, selective inhibitor of the ileal bile acid transporter (IBAT) that has minimal systemic exposure and is currently in development at Albireo,” Ron Cooper, president, and chief executive officer of Albireo told Rare Disease Report®
in a past interview. “IBAT inhibition decreases intestinal bile acid absorption, thereby reducing high concentrations of liver and circulating bile acids, which are believed to play a key role in the development of pruritus, liver damage, and liver failure.”
The product is currently being evaluated in a phase 3 trial for PFIC
AXS-12 for the Treatment of Narcolepsy
On October 17, 2018, the FDA granted Axsome Therapeutics, Inc.’s AXS-12—a novel, oral, highly selective and potent norepinephrine reuptake inhibitor—orphan drug designation for the treatment of the symptoms associated with narcolepsy, a rare, neurological condition.
This came on the heels of the clinical-stage biopharmaceutical company’s announcement that they will be launching a phase 2 trial of AXS-12 for the treatment of patients with narcolepsy in the fourth quarter with top-line results expected in the first half of next year.
The potential use of AXS-12 in narcolepsy is supported by positive pre-clinical and preliminary clinical results as well as a positive clinical safety record, according to Axsome. For one, the active agent used in AXS-12, reboxetine, has been found to reduce narcoleptic episodes in animal models; it was also found to improve excessive daytime sleepiness and reduce cataplexy in patients with narcolepsy in an open-label pilot trial.
KD025 for the Treatment of Chronic Graft-Versus-Host Disease
On October 17, 2018, the FDA granted a breakthrough therapy designation to Kadmon Holdings, Inc.’s candidate, KD025, for the treatment of patients with chronic graft-versus-host disease after failure of 2 or more lines of systemic therapy.
KD025 is a selective oral inhibitor of Rho-associated coiled-coil kinase 2, according to Kadmon.
The company is currently in the process of enrolling participants for a phase 2 trial of KD025
in this patient population.
“We are pleased that the FDA has recognized the therapeutic potential of KD025 for chronic graft-versus-host disease, a serious condition for which new treatments are urgently needed,” Harlan W. Waksal, MD, president and CEO of Kadmon, said in a recent statement. “This designation is a key regulatory milestone and we look forward to working closely with the FDA to expedite the development of KD025.”
PRN1008 for the Treatment of Immune Thrombocytopenic Purpura
On October 19, 2018, the FDA granted an orphan drug designation to Principia Biopharma Inc.’s PRN1008 for the treatment of patients with immune thrombocytopenic purpura, a rare, and often chronic, autoimmune disease that is described by a decreased number of circulating platelets.
The clinical-stage biopharmaceutical company is the midst of a phase 2 trial that has been designed to assess the safety and effectiveness of the oral, reversible covalent Bruton’s Tyrosine Kinase inhibitor, in patients with immune thrombocytopenic purpura.
Previous to this announcement, in June 2017, PRN1008 was granted an orphan drug designation for the treatment of patients with pemphigus vulgaris