CompletedNot Applicable

Pyruvate Kinase Deficiency Natural History Study

United States254 participantsStarted 2013-12

Plain-language summary

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.

Who can participate

SexALL

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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.

What they're measuring

transfusion burden in splenectomized and non-splenectomized participants

Timeframe: 12 weeks

Trial details

NCT IDNCT02053480

SponsorBoston Children's Hospital

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2019-12

View on ClinicalTrials.gov More Pyruvate Kinase Deficiency trials