In a news release from January 4, 2022, biopharmaceutical company SpliSense shared that their drug candidate SPL84-23-1 for cystic fibrosis (CF) earned Orphan Drug designation in both the United States and Europe. In particular, SPL84-23-1 is designed for patients with a 3849 mutation within the CFTR gene. Typically, this mutation is associated with more severe cases of cystic fibrosis.

SPL84-23-1

So what exactly is SPL84-23-1? According to SpliSense, this antisense oligonucleotide treatment,:

delivered via inhalation, effectively penetrates the target cells in the lungs, and binds to the target region, thereby preventing the inclusion of 84 intronic nucleotides as a cryptic exon, and generating a fully functioning CFTR protein.

SPL84-23-1 is specially targeted to reduce potential adverse reactions and improve efficacy and efficiency.

In the United States, Orphan Drug designation is granted to drugs or biologics intending to treat, diagnose, or prevent a rare condition. These are defined as those affected 200,000 Americans or less. As a benefit, drug developers (such as SpliSense) receive benefits include tax credits, fee waivers, increased regulatory assistance, and 7 years market exclusivity upon approval. In the European Union, Orphan Drug designation is given to drugs or biologics intended to treat rare conditions affecting no more than 5 in every 10,000 people. Incentives include protocol assistance, fee reductions, and market exclusivity upon approval.

About Cystic Fibrosis (CF)

Over 400 CFTR gene mutations have been associated with cystic fibrosis (CF), a genetic disorder. Cystic fibrosis is inherited in an autosomal recessive pattern, meaning those who have it must inherit one defective gene from each parent. The CFTR gene mutations impact salt movement regulation. As a result, thick, sticky mucus accumulates throughout their system, causing progressively worsening digestive system and respiratory damage. The mucus accumulation may prevent digestive enzyme release, halt nutrient absorption, and cause frequent infections and lung damage. CF is more common in Caucasian patients than those of other backgrounds. Symptoms associated with cystic fibrosis include:

• Exercise intolerance
• Shortness of breath and/or difficulty breathing
• Persistent wheezing or coughing
• Salty skin
• Frequent lung infections
• Poor weight gain
• Stuffiness
• Constipation
• Greasy and foul-smelling stools
• Infertility (in males)