“…As we pull into the hospital, she starts screaming that she doesn’t want to be there, and she wants to be home… No matter how much her doctors want to make her feel better, and she’s also three, so it’s hard to explain to her that this will make you feel better. All she knows is I’m going to get poked and she just doesn’t want to get poked. Pokes means hurts.”

Pyruvate kinase deficiency (PK deficiency) is a devastating rare genetic disorder characterized by hemolytic anemia (the premature destruction of red blood cells), but it shares much in common with other rare diseases: pain, psychological burden, emotional trauma and caregiver stress. When it comes to drug development, do scientists and regulators know what patients and their families live through, and what they are willing to bear?

The above quote is from the “Voice of the Patient Report” on Pyruvate Kinase Deficiency that was recently posted by the US Food and Drug Administration (FDA) on its web page. This ground-breaking report was the direct result of PK deficiency patients, caregivers and medical communities coming together at an externally-led Patient-Focused Drug Development Meeting (EL-PFDD) in September 2019. 

NORD, the Foundation for Rare Blood Diseases (SZB) and the PK deficiency community hosted the EL-PFDD meeting, which featured panels of patient and caregiver speakers providing personal testimony of around their experiences living with the disease: their challenges, their hopes for treatments, and their perspectives on the risks and benefits of potential new treatments. 

Many questions were asked of the 61 people in the room and the 75 people on a live-web streaming audience at the September meeting, such as:

• How well does your current treatment regimen treat the most significant symptoms of your disease?
• How do your symptoms and their impacts affect your daily life? 
• Which factors are the most important to you when deciding to select a new treatment or drug for your disease?

The “Voice of the Patient Report” captures responses and trends to these questions and more. The  answers continue to be critical, providing researchers, drug developers, and (FDA) with a robust understanding of patients’ and caregivers’ experiences with pyruvate kinase deficiency. 

For those who do not access technology and whose voices might not have been included in the live, web-streaming audience participation, NORD gathered first-of-its-kind testimony in advance of the meeting from the heavily affected Amish community of Belleville, Pennsylvania.

We are grateful for the community’s participation and valuable input on this rare, genetic hemolytic anemia disorder, and are happy to share the insights gathered through this report, insights that will help inform the development of therapeutics that we hope can improve the lives of patients living with pyruvate kinase deficiency. 

The “Voice of the Patient” report is available for download now, and a recording of the entire EL-PFDD meeting on pyruvate kinase deficiency can be viewed here.