Rare diseases may seem niche, but their impact is far from small. An estimated 7,000 rare diseases exist, collectively affecting a staggering 300 million people worldwide. This immense burden of disease, coupled with a profound lack of treatment options, underscores the urgent need for innovation. “Actually, the total burden of disease and unmet medical need [for rare disease] is really high,” emphasizes Dr. Katie Abouzahr, vice president, autoantibody portfolio and maternal fetal disease area leader at Johnson and Johnson Innovative Medicine. In recognition of Rare Disease Day on February 29 in 2024, we spoke with Abouzahr to explore how Johnson & Johnson Innovative Medicine aims to tackle these challenges.
The profound scarcity of treatments for the thousands of known rare diseases drives Johnson & Johnson’s commitment to this area. Abouzahr highlights that many of these diseases still lack advanced therapies, emphasizing the “incredibly high” unmet medical need. She explains that her return to her physician roots fuels her desire to impact patients’ lives. “A lot of my motivation is in areas where there isn’t an approved advanced therapy,” she said, which drives a quest to do “something really new to address unmet need.”
Addressing the unmet need in rare diseases
Katie Abouzahr
Autoantibodies, antibodies that mistakenly target the body’s own tissues, play a critical role in various autoimmune diseases, including myasthenia gravis (MG) and hemolytic disease of the fetus and newborn (HDFN). These misguided immune components can cause significant damage, leading to a diverse range of debilitating symptoms. Consequently, the conditions are also a pillar of J&J’s strategy of targeting rare disease.
At the heart of J&J’s autoantibody-based rare disease approach is nipocalimab, a therapeutic candidate designed to reduce the harmful effects of autoantibodies. Its unique mechanism may offer potential benefits across a spectrum of autoantibody-driven diseases. “One of the unique things about autoantibody-driven diseases is that they do share a common underlying mechanism,” Abouzahr said. This mechanism is driven by IgG antibodies, the primary type responsible for these harmful autoimmune responses. This commonality means that by targeting IgG antibodies, “you can use this one approach to impact many different diseases,” she added.
Targeting autoantibodies: A common thread in rare diseases
J&J is now actively developing nipocalimab to tackle a range of autoantibody-related conditions, tapping its ability to modulate the detrimental effects of IgG antibodies. For instance, nipocalimab is in a phase 3 trial for warm autoimmune hemolytic anemia. It is also undergoing phase 2 trials for hemolytic disease of the fetus and newborn, Sjögren’s syndrome, systemic lupus erythematosus, idiopathic inflammatory myopathy, and as a combination therapy for rheumatoid arthritis.
Abouzahr emphasized the importance of collaboration in tackling the rarity and diversity of rare diseases with both patients and other crucial stakeholders. This focus extends beyond patient communities to include non-governmental organizations (NGOs) and government agencies. Abouzahr describes patients as especially vital in the rare disease space. “These patients often become experts in navigating their condition, from diagnosis to finding appropriate specialists,” she said. By listening to them, J&J can gain insights to inform its clinical trial programs in rare disease. “Involving patients in these discussions is crucial because rare diseases necessitate a more personalized, tailored approach than [prevalent diseases],” Abouzahr concluded.