ICYMI: Quoin Files New Rapamycin Patent Applications for Rare Disease Treatment

Image Credit: © dermnetnz.org

Yesterday, Quoin Pharmaceuticals announced that it has filed patent applications for novel topical formulations of rapamycin (sirolimus) both in the US and internationally.¹ These products will be used to treat a variety of rare diseases such as microcystic lymphatic malformations, venous malformations, and angiofibromas.

The formulations will use Quoin’s in-licensed proprietary Invisicare delivery technology, which works to optimize the mTOR inhibitor of rapamycin and penetrate deep into the dermis to boost clinical and therapeutic efficacy in all orphan rare skin diseases. This Invisicare technology is also being utilized in topical QRX003 lotion, a potential treatment for Netherton Syndrome that has recently reported positive trial results in adult and pediatric patients.²

“As we continue to advance the clinical development of Quoin’s lead product, QRX003, for Netherton Syndrome, we are pleased to announce the filing of this patent and the initiation of the development of our novel formulations as potential treatments for these additional rare skin diseases,” CEO of Quoin, Michael Myers, MD, said in a statement. “By combining the known clinical activity of rapamycin with this optimized delivery system, we believe our novel topical formulations may have the potential to effectively treat these diseases.”¹

Facial cutaneous angiofibromas are benign growths characterized by fibrovascular tissue. They are usually observed as small and firm papules on the nose and cheeks, usually red or flesh-colored. These tumors are closely associated with tuberous sclerosis complex.

Microcystic lymphatic malformation is a rare, chronic, and genetic condition affecting more than 30,000 individuals in the US. It involves PI3K/mTOR pathway dysregulation as malformed soft tissue lymphatic vessels diffuse and emerge through the skin barrier. These lesions are most commonly found inside the mouth, throat, tongue, parotid gland, and submandibular gland. This leads to persistent leakage of lymph fluid and bleeding, which can cause infection and cellulitis.

Cutaneous venous malformations result from genetic mutations that overactivate the PI3K/mTOR signaling pathway, leading to dysfunctional vein formation within the skin. Affecting an estimated 75,000 diagnosed individuals in the US, this condition can cause severe complications, including bleeding, ulceration, thrombosis, and chronic pain. It is the most common type of congenital vascular malformation. Quick diagnosis can be difficult but current treatment methods include surgery, sclerotherapy, and ablative therapies. Both microcystic lymphatic malformations and venous malformations do not currently have an FDA-approved treatment. 

“We have seen other topical formulations of rapamycin underperform in clinical settings across a number of indications, which we believe may be as a result of suboptimal delivery of the drug at the target sites. The Invisicare technology is designed to overcome these limitations. We are now moving forward with our plans to submit IND applications for at least two of these target indications this year and to formally initiating clinical development as soon as possible,” Myers concluded.¹

References

1. Quoin Pharmaceuticals Files U.S. and International Patent Applications for Novel Topical Rapamycin Formulations to Treat Rare Disease Indications. News release. Globe Newswire. March 4, 2025. Accessed March 5, 2025. https://www.globenewswire.com/news-release/2025/03/04/3036382/0/en/Quoin-Pharmaceuticals-Files-U-S-and-International-Patent-Applications-for-Novel-Topical-Rapamycin-Formulations-to-Treat-Rare-Disease-Indications.html

2. Quoin Pharmaceuticals Announces Highly Positive ‘Whole Body’ Clinical Data from Ongoing Pediatric Netherton Syndrome Study. News release. Globe Newswire. February 27, 2025. Accessed March 5, 2025. https://www.globenewswire.com/news-release/2025/02/27/3033744/0/en/Quoin-Pharmaceuticals-Announces-Highly-Positive-Whole-Body-Clinical-Data-from-Ongoing-Pediatric-Netherton-Syndrome-Study.html