The Evolution of PNH: From Discovery to Modern Treatments

The early days
Paroxysmal nocturnal hemoglobinuria (PNH), a condition where red blood cells are prematurely destroyed, was first accurately described by Paul Strübing in 1882. Over the next century, researchers worldwide delved into understanding this rare blood disorder: What causes it? How can it be treated?

It wasn’t until 1993, more than 100 years later, that Japanese researcher, Taroh Kinoshita, made a breakthrough discovery — the PIG-A gene, which he identified as the culprit behind PNH.

For many years, hematopoietic stem cell transplants (bone marrow transplants) were the best treatment option for PNH patients. These transplants are major surgeries, and while some experience minimal side effects, others have complications. However, there weren’t yet a wide range of treatment options available, so those living with PNH had limited options.

Fortunately, more treatment therapies have since been developed and approved, offering options for people living with PNH. Below is a timeline of the development of PNH treatments, along with additional therapies under investigation.

2007
The first approved drug for PNH, Soliris, emerged in 2007, marking a groundbreaking development for the PNH community. Soliris works by making the body’s complement system less active. It essentially binds to proteins in the blood that could destroy red blood cells and also reduces the risk of blood clotting.

2018
Eleven years later, in 2018, Ultomiris was approved as a treatment for PNH. Unlike Soliris, Ultomiris inhibits the C5 protein in the complement cascade, offering a different mechanism of action. In the past five years, additional therapies have been approved, demonstrating significant progress in the treatment landscape of PNH.

2023
This brings us to late 2023 and 2024, when the first oral therapy for PNH, Fabhalta, was approved. The authorization of Fabhalta represents a paradigm shift for PNH patients, who now have the option to avoid infusion therapies or subcutaneous injections.

Current day
Today, we stand at the forefront of a PNH research study unlike any other. As the first of its kind, this study collects real world data directly from PNH patients — from home.

This study goes beyond the traditional studies that require patients to stick to strict protocols and treatments. Patients are at liberty to track health metrics important to them, any treatments they are taking, and how these treatments impact their symptoms and overall quality of life. This study provides a unique opportunity for people with PNH (the experts), to share directly with drug developers things like: What’s important to them? What’s more commonly associated with PNH than previously thought? Which treatments cause the least disruption to daily life?

Through this ongoing research, we aspire to a better future for PNH patients, one where their voices and experiences directly influence the development of more effective and convenient treatments.