View source for Patients Caregivers: Pyruvate Kinase Deficiency Resources

<br>This information helps describe the disease course and identify important factors (e.g. demographic, genetic, and/or lab test results), that may contribute to better or worse disease outcomes. Travel, accommodation, and food stipend would be provided. Study assessments are provided free of charge. Natural History Studies are particularly important for rare diseases. Given the diversity of symptoms and the small size of the patient population, these studies are often the only opportunity for researchers and physicians to address significant knowledge gaps and obtain a robust understanding of the disease and patient experience. Understanding characteristics of the patient population to define a treatment benefit from a patient’s perspective. Provide patient-centric data for health authorities such as the FDA, and other public health institutions to use in their review processes of investigational treatments. Interested in learning more? To read our Expanded Access statement, click here. PKD is a rare, genetic blood disorder characterized by excessive rupture of red blood cells (RBCs); resulting in frequent, chronic anemia that can lead to in life-threatening complications for patients with the severe form of the disease.<br><br><br><br>PKD is caused by a defect in the PKLR gene which is found in RBCs. RBCs are responsible for carrying oxygen to the rest of the body. The PKLR gene in RBCs produces a protein (enzyme) called pyruvate kinase (PK), which is necessary for producing energy in RBCs and helps keep RBCs intact. When the PKLR gene has a defect, RBCs are limited in their ability to produce energy and stay intact because they lack the PK enzyme. Without the PK enzyme, RBCs break down faster than the body can make them. As a result, patients with PKD frequently have anemia, chronic fatigue, yellowing of the skin and eyes (jaundice) and large spleens. Blood stem cells are first collected from a patient. These stem cells are then genetically modified in a laboratory to introduce a correct copy of the PKLR gene using a virus that has been changed so that the virus cannot grow, spread or cause an infection.<br><br><br><br>The patient is then given a type of chemotherapy medication called busulfan to remove existing bone marrow cells to make room for the genetically modified stem cells (this is also known as conditioning therapy). After receiving busulfan, the patient is given an intravenous infusion of the genetically modified blood stem cells, similar to having a transfusion. These genetically modified stem cells are expected to return to the bone marrow and to make new blood cells, including new RBCs with the functioning PK enzyme. Having a functioning PK enzyme is expected to prevent destruction of RBCs and  [https://gitlab-ce.apps.openshift4.positiva.gov.co/ednamullet3843/testosterone-booster-supplement9574/issues/132 Titan Rise Power] as a result, correct anemia and reduce or  [https://wiki.mubk.top/index.php?title=User_talk:AutumnGullett3 Titan Rise Power] prevent the need for blood transfusions in patients. Negative serum pregnancy test for female patients of childbearing potential. Click here for information about steps involved in the trial.