Clinical Trial: Pyruvate Kinase Deficiency Natural History Study

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational [Patient Registry]

Official Title: Pyruvate Kinase Deficiency (PKD) Natural History Study

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.

Detailed Summary:

The purpose of the Pyruvate Kinase Deficiency (PKD) Natural History Study is to describe the natural history of PKD and the range and incidence of symptoms, treatments, and complications related to PKD. The study will collect retrospective medical history and routine clinical care data at baseline and annually for patients with PKD. Patients without a genetic diagnosis will have a blood sample drawn for genetic diagnostic confirmation for research purposes. Understanding the clinical variation among participants with PKD, and assessing treatments specific to PKD and their outcomes will accelerate improvement in the care of patients with PKD. Understanding the natural history of PKD may be useful in the design of future interventional studies. Detailed genotypic and phenotypic characterization of the cohort will allow for continued in depth characterization of PKD. Finally, the PKD Natural History Study will identify interested participants for future PKD studies.

Primary Objectives:

  1. To estimate the transfusion burden in splenectomized and non-splenectomized participants with PKD.
  2. To establish a patient registry as a potential source for recruitment to future research studies in PKD.

Secondary Objectives:

  1. To determine if patient-reported outcomes, including quality of life and fatigue scales, are associated with age, genotype, hemoglobin nadir, and/or transfusion burden, overall and within the subgroups of splenectomized vs. non-splenectomized participants;
  2. To describe changes over time in the range of hemoglobin values and markers of hemolysis within individual participants and among pa
    Sponsor: Boston Children’s Hospital

    Current Primary Outcome: transfusion burden in splenectomized and non-splenectomized participants [ Time Frame: 12 weeks ]

    Original Primary Outcome: Same as current

    Current Secondary Outcome:

    • patient-reported outcomes [ Time Frame: enrollment, annually, up to 2 years ]
      EuroQoL-5D-5L, Functional Assessment of Cancer Therapy-Anemia (FACT-An), Pediatric Quality of Life Inventory 4.0 (pedsQL 4.0), Pediatric Functional Assessment of Chronic Illness-Fatigue (pedsFACIT-F), Patient Reported Outcomes Measurement Information System Fatigue (PROMIS Fatigue)
    • changes over time in hemoglobin and markers of hemolysis [ Time Frame: enrollment, annually, up to 2 years ]
    • prevalence and severity of iron overload [ Time Frame: enrollment, annually, up to 2 years ]


    Original Secondary Outcome: Same as current

    Information By: Boston Children’s Hospital

    Dates:
    Date Received: January 28, 2014
    Date Started: December 2013
    Date Completion: December 2018
    Last Updated: April 11, 2017
    Last Verified: April 2017