Pyruvate Kinase Deficiency Natural History Study
Pyruvate Kinase Deficiency Natural History Study
The purpose of this study is to describe the range and incidence of symptoms, treatments, and
 complications related to pyruvate kinase deficiency (PKD). Eligible patients are those of all
 ages with known PKD or with a hemolytic anemia and a family member with PKD. The study will
 collect retrospective medical history, routine clinical care data, and quality of life
 measures at baseline and annually for patients with PKD.
The purpose of the Pyruvate Kinase Deficiency (PKD) Natural History Study is to describe the
 natural history of PKD and the range and incidence of symptoms, treatments, and complications
 related to PKD. The study will collect retrospective medical history and routine clinical
 care data at baseline and annually for patients with PKD. Patients without a genetic
 diagnosis will have a blood sample drawn for genetic diagnostic confirmation for research
 purposes. Understanding the clinical variation among participants with PKD, and assessing
 treatments specific to PKD and their outcomes will accelerate improvement in the care of
 patients with PKD. Understanding the natural history of PKD may be useful in the design of
 future interventional studies. Detailed genotypic and phenotypic characterization of the
 cohort will allow for continued in depth characterization of PKD. Finally, the PKD Natural
 History Study will identify interested participants for future PKD studies.

 Primary Objectives:

 1. To estimate the transfusion burden in splenectomized and non-splenectomized participants
 with PKD.

 2. To establish a patient registry as a potential source for recruitment to future research
 studies in PKD.

 Secondary Objectives:

 1. To determine if patient-reported outcomes, including quality of life and fatigue scales,
 are associated with age, genotype, hemoglobin nadir, and/or transfusion burden, overall
 and within the subgroups of splenectomized vs. non-splenectomized participants;

 2. To describe changes over time in the range of hemoglobin values and markers of hemolysis
 within individual participants and among participants with PKD;

 3. To estimate the incidence of past splenectomy and annual splenectomy rate, as treatment
 for PKD;

 4. To estimate the prevalence and severity and describe the treatment of hepatic and
 cardiac iron overload and its complications in PKD (liver, cardiac, growth defects,
 hypogonadotropic hypogonadism, and other endocrine defects). To describe the changes in
 these complications that may occur over time and by age group;

 5. To estimate the prevalence of co-morbidities associated with chronic hemolysis in PKD,
 to identify which co-morbidities are the most common, and to determine if the prevalence
 and/or severity of co-morbidities change over time and by age at the time of the first
 appearance of the co-morbidity;

 6. To determine pregnancy outcomes among participants with PKD;

 7. To describe genotypic and phenotypic variation among participants and explore
 genotype-phenotype correlation in PKD.
Inclusion Criteria:

 -  Patients of all ages with biochemically or genetically diagnosed PKD.

 -  Patients with a hemolytic anemia AND a family member with genetically diagnosed PKD

 -  The participant or the guardian of the participant is willing and able to give written
 informed consent and/or assent.

 Exclusion Criteria:

 -  The participant or the guardian of the participant is unwilling or unable to give
 written informed consent and/or assent.