Novel Porosome Reconstitution Therapy Receives Orphan Drug Designation for Treatment of Cystic Fibrosis

The FDA accepted an orphan drug designation for porosome reconstitution therapy, a novel treatment for patients with cystic fibrosis (CF). Globally, over 160,000 people live with CF, which significantly reduces average life expectancy.¹

Visualization of cystic fibrosis in the lungs | Image Credit: © Mr image - stock.adobe.com

Cystic fibrosis (CF) is a genetic disorder that affects cells responsible for producing mucus, primarily in the airways, digestive system, and reproductive organs. Normally, these secretions are thin and slippery, but mutations in the CFTR gene cause them to become thick and sticky. This leads to clogged ducts and passages, increasing the risk of infections and impairing normal function.¹

Typical symptoms of CF can include blocked intestines, clubbing of the fingers and toes because of reduced oxygen flow, delayed puberty, fertility complications, chronic pain, and others. There is no cure for CF, and treatment is intended to improve the length and quality of life in patients. Some treatments may include antibiotics to treat lung infections, anti-inflammatory agents, mucus thinners, and CFTR modulators.^2,3

As of February 2025, approved therapies include the following: elexacaftor, tezacaftor (Symdeko; Vertex Pharmaceuticals), and ivacaftor (Kalydeco; Vertex Pharmaceuticals), known as Trikafta (Vertex Pharmaceuticals), for adults and children ages 2 and older with certain CFTR mutations; ivacaftor monotherapy for adults and children as young as 4 months old; lumacaftor and ivacaftor for people who are at least 1 year old; and tezacaftor plus ivacaftor for patients as young as 4 months old.³

Porosome reconstitution represents a novel approach to treatment of CF through the introduction of healthy porosomes into the plasma membrane of diseased cells to restore normal secretory function. The porosome is the secretory portal of the cell and was first discovered by Bhanu P. Jena, PhD, professor in the biology department at Wayne State University.¹

By incorporating functional porosomes into the plasma membrane of CFTR mutant cells, researchers found that this approach enhanced mucus secretion more than twice as effectively as existing cystic fibrosis treatments on the market. Porosome reconstitution involves the introduction of healthy porosomes into the plasma membrane of diseased cells to restore normal secretory function.¹

“We’re gratified by the FDA’s recognition of porosome reconstitution therapy as a new and novel approach for treating cystic fibrosis, given its promise to treat all mutations of the disease, including those that result due to the absence of CFTR expression in some patients,” Bhanu P. Jena, chairman of Porosome Therapeutics and Distinguished University Professor at the Wayne State University School of Medicine, said in a news release. “It’s heartening to see the porosome discovery made 30 years ago is now being translated to serve humanity.”¹

The FDA’s orphan drug designation for porosome reconstitution therapy marks a significant step forward in cystic fibrosis treatment. By targeting all CF mutations, including those lacking CFTR expression, this innovative approach offers new hope for patients. As research progresses, porosome therapy could significantly transform CF care and improve patient outcomes worldwide.

REFERENCES

1. FDA grants orphan drug designation to revolutionary cystic fibrosis therapy. BioSpace. February 26, 2025. Accessed February 28, 2025. https://www.biospace.com/press-releases/fda-grants-orphan-drug-designation-to-revolutionary-cystic-fibrosis-therapy

2. Cystic fibrosis symptoms. National Heart, Lung, and Blood Institute. November 15, 2024. Accessed February 28, 2025. https://www.nhlbi.nih.gov/health/cystic-fibrosis/symptoms

3. Cystic fibrosis treatment. National Heart, Lung, and Blood Institute. November 15, 2024. Accessed February 28, 2025. https://www.nhlbi.nih.gov/health/cystic-fibrosis/treatment