PKD Natural History Study

Principal Investigator: Hassan Yaish
Keywords: Pyruvate Kinase Deficiency Department: Pediatric Administration
IRB Number: 00074415 Co Investigator:  
Specialty: Hematology/BMT
Sub Specialties:
Recruitment Status: Recruiting

Contact Information

Kolenya  Holly
kolenya.holly@hsc.utah.edu
(801)734-0165

Brief Summary

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 (PRO), including quality of life (QoL) 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

 

8. To describe the correlation of the phenotypic severity to baseline levels of red cell adenosine triphosphate (ATP), 2,3-Diphosphoglycerate (2,3-DPG), and pyruvate kinase activity and protein levels. 

 

Inclusion Criteria

Patients of all ages with biochemically or genetically diagnosed PKD.

OR

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

 

AND

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.