Life-changing treatment could eliminate large, painful moles in children
Researchers at the Francis Crick Institute, UCL Great Ormond Street Institute for Child Health, and Great Ormond Street Hospital for Children (GOSH) have developed a promising new genetic therapy for a rare skin condition called congenital melanocytic naevus syndrome (CMN).
CMN causes children to be born with large, sometimes painful or itchy moles, which can cover up to 80% of their bodies. These moles carry an increased risk of developing melanoma, a serious form of skin cancer.
The new therapy targets a mutated gene called NRAS, a known culprit in mole formation and cancer predisposition. Published in the Journal of Investigative Dermatology, the study showed that silencing NRAS in mole cells, both in a laboratory setting and in mice with CMN, triggered the mole cells to self-destruct.
The researchers employed a technique called silencing RNA (siRNA) to target the mutated NRAS gene. siRNA essentially "shuts off" the gene's instructions, preventing it from promoting mole growth. Delivered via special particles directly to the mole cells, the siRNA silenced the NRAS gene within 48 hours in mice with CMN. Additionally, the team successfully tested the therapy on human skin cells from CMN patients, achieving the same gene silencing effect.
"CMN presents a significant physical and emotional burden for patients and their families," said Dr. Veronica Kinsler, lead researcher and Professor of Paediatric Dermatology and Dermatogenetics at GOSH/UCL.
"These results are very exciting because they demonstrate the potential for this therapy to not only eliminate moles in the lab but also to be delivered effectively to the skin in mice. While further testing is necessary before human trials can begin, these findings offer a promising new avenue for CMN treatment."
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The potential impact of this therapy extends beyond CMN. Because NRAS mutations are also implicated in some more common types of moles, the researchers believe this approach could offer a non-surgical alternative for mole removal in the future.
The research was funded in part by Caring Matters Now, a charity dedicated to supporting families affected by CMN. Jodi Whitehouse, CEO of Caring Matters Now, shared her personal experience with CMN, highlighting the potential life-changing impact of this therapy.
"As someone who has lived with CMN myself, this breakthrough is truly awe-inspiring," Whitehouse said. "The prospect of a treatment that could eliminate moles and reduce melanoma risk offers immense hope for countless individuals."
Dr. Catriona Crombie, Head of Rare Disease at LifeArc, another funding organization, emphasized the importance of continued research for rare diseases like CMN. "This work exemplifies our commitment to improving the lives of those affected by rare diseases," Dr. Crombie stated. "We are hopeful that with continued research, this therapy will reach human clinical trials within the next few years."
A Beacon of Hope for Families
The potential benefits of this new therapy are exemplified by the story of Ada, a 3-year-old girl with CMN covering 70% of her body. Ada's CMN not only affects her appearance but also causes discomfort and limits her ability to enjoy activities like swimming.
When Ada was just four months old, she underwent surgery to remove some of the most problematic moles. Her parents, Rachelle and Greg, who donated skin cells for the research, expressed their elation at the progress. "Knowing that such significant advancements have been made in CMN research, and that there's a chance Ada's CMN could be reversed and her melanoma risk reduced, is truly overwhelming," they said. "The possibility of this treatment becoming available within a few years is mind-blowing."
The development of this new genetic therapy offers a beacon of hope for children like Ada and countless others living with CMN. With continued research and successful clinical trials, this innovative approach could revolutionize CMN treatment, offering a future free from the physical and emotional burdens of this challenging condition.
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