Pyruvate Kinase Deficiency Natural History Study

NCT02053480 | Completed

• 1 other identifier: P00010515
• Study Type: observational
• Target: 254
• Locations: 6 countries
• Sites: 30

Brief 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.

Conditions

Pyruvate Kinase Deficiency; Congenital Non-Spherocytic Hemolytic Anemia

Keywords

pyruvate kinase deficiency; hemolytic anemia; anemia; enzymopathy; jaundice; splenectomy; health-related quality of life; Hematologic diseases

Outcome Measures

Primary Outcomes (1)

• transfusion burden in splenectomized and non-splenectomized participants

  12 weeks

Secondary Outcomes (3)

• patient-reported outcomes

  enrollment, annually, up to 2 years

• changes over time in hemoglobin and markers of hemolysis

  enrollment, annually, up to 2 years

• prevalence and severity of iron overload

  enrollment, annually, up to 2 years

Study Arms (1)

Pyruvate Kinase Deficiency

Patients of all ages with Pyruvate Kinase Deficiency

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Pyruvate Kinase Deficiency of all ages

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.

Sponsors & Collaborators

• Boston Children's Hospital: lead
• Agios Pharmaceuticals, Inc.: collaborator

Study Sites (30)

Phoenix Children's Hospital

Phoenix, Arizona, 85006, United States

Location

Stanford University

Palo Alto, California, 94305, United States

Location

Children's Hospital of Atlanta

Atlanta, Georgia, 30342, United States

Location

Lurie Children's Hospital

Chicago, Illinois, 60611, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

University of Massachusetts Medical Center

Worcester, Massachusetts, 01605, United States

Location

Wayne State University School of Medicine

Detroit, Michigan, 48201, United States

Location

University of Mississippi Medical Center

Jackson, Mississippi, 39216, United States

Location

Children's Mercy Hospitals & Clinics

Kansas City, Missouri, 64108, United States

Location

Weill Cornell Medical College

New York, New York, 10065, United States

Location

Duke University Medical Center

Durham, North Carolina, 27710, United States

Location

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

DDC Clinic for Special Needs Children

Middlefield, Ohio, 44062, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Central Pennsylvania Clinic

Strasburg, Pennsylvania, 17579, United States

Location

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

University of Utah

Salt Lake City, Utah, 84108, United States

Location

University of Vermont College of Medicine & University of Vermont Medical Center

Burlington, Vermont, 05405, United States

Location

McMaster University

Hamilton, Ontario, L8N 3Z5, Canada

Location

University Health Network

Toronto, Ontario, M5G 2C4, Canada

Location

CHU Sainte-Justine

Montreal, Quebec, H3T 1C5, Canada

Location

Fakultni Nemocnice Olomouc

Olomouc, Czechia

Location

Charite Berlin

Berlin, Germany

Location

University of Freiburg

Freiburg im Breisgau, 79106, Germany

Location

UniversitätsKlinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin Klinik Kinderheilkunde III

Heidelberg, 69120, Germany

Location

Klinikum Kassel

Kassel, 34125, Germany

Location

Klinikum der Universität München, Center for Pediatric Hematology/Hemostaseology

Munich, 80337, Germany

Location

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Milan, 20122, Italy

Location

UMC Utrecht

Utrecht, 3508GA, Netherlands

Location

Related Publications (4)

• Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospisilova D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood. 2018 May 17;131(20):2183-2192. doi: 10.1182/blood-2017-10-810796. Epub 2018 Mar 16.

  PMID: 29549173 BACKGROUND

• van Beers EJ, van Straaten S, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kwiatkowski JL, Rothman JA, Sharma M, Neufeld EJ, Sheth S, Despotovic JM, Kollmar N, Pospisilova D, Knoll CM, Kuo K, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Verhovsek M, Kunz J, McNaull MA, Rose MJ, Bradeen HA, Addonizio K, Li A, Al-Sayegh H, London WB, Grace RF. Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. Haematologica. 2019 Feb;104(2):e51-e53. doi: 10.3324/haematol.2018.196295. Epub 2018 Sep 13. No abstract available.

  PMID: 30213831 BACKGROUND

• Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Am J Hematol. 2020 May;95(5):472-482. doi: 10.1002/ajh.25753. Epub 2020 Mar 6.

  PMID: 32043619 BACKGROUND

• Al-Samkari H, van Beers EJ, Morton DH, Eber SW, Chonat S, Kuo KHM, Kollmar N, Wang H, Breakey VR, Sheth S, Sharma M, Forbes PW, Klaassen RJ, Grace RF. Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency. Blood Adv. 2022 Mar 22;6(6):1844-1853. doi: 10.1182/bloodadvances.2021004675.

  PMID: 34470054 DERIVED

MeSH Terms

Conditions

Pyruvate Kinase Deficiency of Red Cells; Anemia, Hemolytic; Anemia; Jaundice; Hematologic Diseases

Condition Hierarchy (Ancestors)

Hemic and Lymphatic Diseases; Hyperbilirubinemia; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Skin Manifestations; Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 2 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator, PKD Natural History Study

Study Record Dates

• First Submitted: January 28, 2014
• First Posted: February 3, 2014
• Study Start: December 1, 2013
• Primary Completion: December 1, 2019
• Study Completion: May 1, 2020
• Last Updated: May 22, 2020

Record last verified: 2020-05

Data Sharing

• IPD Sharing: Will not share

Locations

DE (5); IT (1); CZ (1); NL (1); US (19); CA (3)