Pyruvate Kinase Deficiency Natural History Study

Completed

Conditions studied: Pyruvate Kinase Deficiency, Congenital Non-Spherocytic Hemolytic Anemia

In brief

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.

Key facts

Study ID

NCT02053480

Run by

Boston Children's Hospital

People needed

254

Starts

2013-12-01

Expected to finish

2020-05-01

Last updated by the study team

2020-05-22

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

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

Where it is running

• Phoenix Children's Hospital — Phoenix, Arizona, United States
• Stanford University — Palo Alto, California, United States
• Children's Hospital of Atlanta — Atlanta, Georgia, United States
• Lurie Children's Hospital — Chicago, Illinois, United States
• Boston Children's Hospital — Boston, Massachusetts, United States
• University of Massachusetts Medical Center — Worcester, Massachusetts, United States
• Wayne State University School of Medicine — Detroit, Michigan, United States
• University of Mississippi Medical Center — Jackson, Mississippi, United States
• Children's Mercy Hospitals & Clinics — Kansas City, Missouri, United States
• Weill Cornell Medical College — New York, New York, United States
• Duke University Medical Center — Durham, North Carolina, United States
• Nationwide Children's Hospital — Columbus, Ohio, United States
• DDC Clinic for Special Needs Children — Middlefield, Ohio, United States
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
• Central Pennsylvania Clinic — Strasburg, Pennsylvania, United States
• St. Jude Children's Research Hospital — Memphis, Tennessee, United States
• Baylor College of Medicine — Houston, Texas, United States
• University of Utah — Salt Lake City, Utah, United States
• University of Vermont College of Medicine & University of Vermont Medical Center — Burlington, Vermont, United States
• McMaster University — Hamilton, Ontario, Canada
• University Health Network — Toronto, Ontario, Canada
• CHU Sainte-Justine — Montreal, Quebec, Canada
• Fakultni Nemocnice Olomouc — Olomouc, Czechia
• Charite Berlin — Berlin, Germany
• University of Freiburg — Freiburg im Breisgau, Germany

Full record on ClinicalTrials.gov

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