PKiDS: Pyruvate Kinase Deficiency (PKD) Natural History Study

Category:

Hematological Disorders

Diseases Treated:

Pyruvate kinase deficiency (PKD)

Eligibility Overview:

This is a non-therapeutic clinical trial that is only open to St. Jude patients.

  • Participants of all ages with biochemically or genetically diagnosed PKD.
  • Participants 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.

Description

The purpose of this study is to collect information about pyruvate kinase deficiency (PKD), a rare genetic cause of anemia (low red blood count) as not much is known about this deficiency and little formal research has been done to know what the best treatments are. This research is being done to better understand the course of the disease and how patients respond to current treatments that are used.

Objectives

Primary Aims

  • To estimate the transfusion burden in participants with PKD who have and have not had a splenectomy.
  • To establish a patient registry as a potential source for recruitment to future research studies in PKD.

Secondary Aims

  • 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 participants who have and have not had a splenectomy.
  • To describe changes over time in the range of hemoglobin values and markers of hemolysis within individual participants and among participants with PKD;
  • To estimate the incidence of past splenectomy and annual splenectomy rate, as treatment for PKD;
  • 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;
  • 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;
  • To determine pregnancy outcomes among participants with PKD;
  • To describe genotypic and phenotypic variation among participants and explore genotype-phenotype correlation in PKD.

Eligibility criteria, among others, include:

Inclusion Criteria

  • Participants of all ages with biochemically or genetically diagnosed PKD.
  • Participants 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 consent and /or assent.

Principal Investigator

Winfred Wang, MD

St. Jude Children’s Research Hospital
262 Danny Thomas Place
Memphis, TN 38105  USA
Voice: 1-888-226-4343 or 901-595-4055
24-Hour Emergency Access Pager: 1-800-349-4334

Referring or consulting clinicians only: protocolinfo@stjude.org
For all other inquiries about St. Jude Children's Research Hospital studies: referralinfo@stjude.org

The above information is intended to provide only a basic description about a research protocol that may be currently active at St. Jude. The details made available here may not be the most up-to-date information on protocols used by St. Jude. To receive full details about a protocol and its status and or use at St. Jude, a physician must contact St. Jude directly.