{"id":59140,"date":"2020-04-28T12:59:33","date_gmt":"2020-04-28T16:59:33","guid":{"rendered":"https:\/\/rarediseases.org\/historic-voice-of-the-patient-report-on-pyruvate-kinase-deficiency-now-available-on-fda-site\/"},"modified":"2022-12-02T08:13:35","modified_gmt":"2022-12-02T13:13:35","slug":"historic-voice-of-the-patient-report-on-pyruvate-kinase-deficiency-now-available-on-fda-site","status":"publish","type":"post","link":"https:\/\/rarediseases.org\/es\/historic-voice-of-the-patient-report-on-pyruvate-kinase-deficiency-now-available-on-fda-site\/","title":{"rendered":"Historic “Voice of the Patient” Report on Pyruvate Kinase Deficiency Now Available on FDA Site"},"content":{"rendered":"

\u201c…As we pull into the hospital, she starts screaming that she doesn\u2019t want to be there, and she wants to be home\u2026 No matter how much her doctors want to make her feel better, and she\u2019s also three, so it\u2019s hard to explain to her that this will make you feel better. All she knows is I\u2019m going to get poked and she just doesn\u2019t want to get poked. Pokes means hurts.\u201d<\/span><\/i><\/p>\n

Pyruvate kinase d<\/span>eficiency<\/span><\/a> (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?<\/span><\/p>\n

The above quote is from the \u201c<\/span>Voice of the Patient Report\u201d on Pyruvate Kinase Deficiency<\/span><\/a> that was recently posted by the US Food and Drug Administration (FDA) on its <\/span>web page<\/span>. This ground-breaking report was the direct result of PK deficiency patients, caregivers and medical communities coming together at <\/span>an externally-led Patient-Focused Drug Development Meeting (EL-PFDD) in September 2019.\u00a0<\/span><\/p>\n

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.\u00a0<\/span><\/p>\n

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:<\/span><\/p>\n