New Treatment Offers Hope to Teenager with Rare Genetic Disorder

A 19-year-old from Norfolk has become the first patient in Europe to receive a recently authorized treatment that may cure her inherited disorder, which is life-threatening. Mary Catchpole has tragically lost several family members to this rare condition, which hampers her immune system’s ability to fend off infections.

“This treatment has brought me hope and joy,” Mary shared. “I feel like I can do anything, but it’s bittersweet because my family didn’t live to benefit from it.”

The newly approved medication, leniolisib, is the first targeted therapy for her condition, known as Activated PI3-kinase Delta Syndrome, or APDS.

Mary’s situation is particularly striking not only because she’s the first to benefit from the drug but also due to her family’s involvement in the research that led to discovering this ultra-rare disorder. APDS was pinpointed in 2013 by researchers at the University of Cambridge and doctors at Addenbrooke’s Hospital, who identified a faulty gene present in several members of Mary’s family.

Dr. Anita Chandra, a consultant immunologist at Addenbrooke’s, remarked, “It’s remarkable to transition from identifying a new disease to having a treatment approved and available through the NHS in just 12 years.”

Mary’s father, Jimmy, expressed his long-standing wish for effective treatment, noting, “We wanted to help not just ourselves but other families facing similar challenges.” He mentioned that Mary and her mother participated in trials as soon as they could.

Mary’s mother passed away at age 43, and other relatives were also taken too soon by the disease. Although one of her cousins received a bone marrow transplant as a child, those carry considerable risks. Since losing her mother when she was just 12, Mary had always feared that she might face a similar fate. However, she now feels hopeful about a longer future, which was her mother’s wish.

The enzyme involved in APDS is overly active, disrupting white blood cell development and messing up the immune system. This deterioration can lead to frequent lung infections, potentially causing irreversible harm and sometimes resulting in lymphoma, a cancer affecting a type of white blood cell.

Leniolisib, marketed as Joenja, is taken in tablet form twice a day and aims to block that overly active enzyme, normalizing immune function.

Mary suffered from numerous chest infections early in life and has had various treatments, including IV antibiotics and immunoglobulin replacement. Though she has only been on leniolisib for a short period, she’s already managed to reduce the amount of other medications she’s taking.

Dr. Chandra expressed optimism, describing the drug as a “potential cure.” Mary is now contemplating a more adventurous future. “I want to take more risks and explore, as all I’ve known has been medication and hospital visits, but now I can discover who I really am.”

Since the faulty gene is inherited through mothers, there’s a 50% chance it could be passed on. Mary hopes to become a dance teacher while continuing her role as a teaching assistant, and she feels a newfound freedom from the worries of infections that had once constrained her.

Prof. Sergey Nejentsev, who led the discovery research for APDS, stated, “Once we identified the cause of APDS, we quickly recognized the potential of certain drugs to inhibit the problematic enzyme. Leniolisib does exactly that. I’m thrilled we finally have a treatment that could transform the lives of APDS patients.”

The cost of leniolisib is listed at £352,000 annually, but after negotiations, it was deemed cost-effective by NICE, enabling it to be available on the NHS. It’s estimated that around 50 patients over 12 could benefit from this medication in England. NHS England’s Medical Director for Specialised Commissioning, Prof. James Palmer, emphasized the significance of this treatment as a promising option for those suffering from such a challenging genetic disorder.