Pyruvate Kinase Deficiency Natural History Study

Status: Recruiting
Phase: N/A
DFCI Protocol ID:

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.

Conducting Institutions:

Children's Hospital Boston, Dana-Farber Cancer Institute

Overall PI:

Rachael Grace, MD, Children's Hospital Boston

Site-responsible Investigators:


Dana-Farber Cancer Institute: Childrens Hospital Pediatric Clinical Translation Investigation Program CTIP,

Eligibility Criteria

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.

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