New Drug Offers Hope for Rare Immune Disorder

A groundbreaking medication is providing new hope for individuals with Activated PI3K-delta Syndrome (APDS), a rare genetic disorder. This innovative treatment is transforming lives and offering the chance of a longer, healthier future for those affected by the condition.

A Family’s Fight

Jimmy, the father, shared that their motivation stemmed from a desire to help others facing similar challenges. His wife bravely participated in clinical trials, and his daughter, Mary, joined the trials when she was old enough.

Tragically, Mary’s mother, Sarah, passed away at 43, and other family members also succumbed to the condition at young ages: her aunt at 12, her uncle at 39, and her grandmother at 48.

One of Mary’s cousins experienced successful treatment through a bone marrow transplant during childhood, though such procedures carry considerable risks.

A New Medication

When her mother died, Mary was only 12. She stated, “It was always a fear that I would die young too but with this medication, I know I can have a longer life, which is what she wanted.”

APDS disrupts the development of white blood cells, leading to an unregulated immune system. Patients frequently experience lung infections, organ swelling, and an increased risk of lymphoma.

The new drug, branded Joenja, comes in tablet form. Taken twice daily, it blocks the problematic enzyme, allowing the immune system to function normally.

“This is something I have dreamt about since Mary was first diagnosed; it is giving her the chance to live a normal life.”

—Jimmy

Mary, who had suffered from frequent chest infections and required intravenous antibiotics, nebulizers, and immunoglobulin replacement therapy, has already reduced her other medications after taking the new drug for less than a month.

Dr. Chandra, Mary’s consultant, who has also treated several other family members, describes the drug as a “potential cure”. In the United States, an estimated 1 in 1 million people are affected by APDS (National Institutes of Health, 2024).

Understanding APDS

In APDS, an overactive enzyme constantly disrupts white blood cell development, leading to immune system dysregulation. This makes patients vulnerable to infections, organ damage, and cancers like lymphoma.

Looking Ahead

The introduction of leniolisib tablets marks a turning point for individuals living with APDS. The focus is on offering improved health outcomes, highlighting the importance of innovative medical approaches to manage and treat rare illnesses.