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Pyruvate Kinase Deficiency Natural History Study (PKD NHS)

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2016 by Boston Children’s Hospital
Sponsor:
Collaborator:
Agios Pharmaceuticals, Inc.
Information provided by (Responsible Party):
Rachael Grace, Children's Hospital Boston
ClinicalTrials.gov Identifier:
NCT02053480
First received: January 28, 2014
Last updated: July 25, 2016
Last verified: July 2016
  Purpose
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.

Condition
Pyruvate Kinase Deficiency
Congenital Non-Spherocytic Hemolytic Anemia

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 2 Years
Official Title: Pyruvate Kinase Deficiency (PKD) Natural History Study

Resource links provided by NLM:


Further study details as provided by Boston Children’s Hospital:

Primary Outcome Measures:
  • transfusion burden in splenectomized and non-splenectomized participants [ Time Frame: 12 weeks ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • patient-reported outcomes [ Time Frame: enrollment, annually, up to 2 years ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
  • prevalence and severity of iron overload [ Time Frame: enrollment, annually, up to 2 years ] [ Designated as safety issue: No ]

Estimated Enrollment: 250
Study Start Date: December 2013
Estimated Study Completion Date: December 2018
Estimated Primary Completion Date: December 2018 (Final data collection date for primary outcome measure)
Groups/Cohorts
Pyruvate Kinase Deficiency
Patients of all ages with Pyruvate Kinase Deficiency

Detailed Description:

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 participants with PKD;
  3. To estimate the incidence of past splenectomy and annual splenectomy rate, as treatment for PKD;
  4. To estimate the prevalence and severity and describe the treatment of hepatic and cardiac iron overload and its complications in PKD (liver, cardiac, growth defects, hypogonadotropic hypogonadism, and other endocrine defects). To describe the changes in these complications that may occur over time and by age group;
  5. To estimate the prevalence of co-morbidities associated with chronic hemolysis in PKD, to identify which co-morbidities are the most common, and to determine if the prevalence and/or severity of co-morbidities change over time and by age at the time of the first appearance of the co-morbidity;
  6. To determine pregnancy outcomes among participants with PKD;
  7. To describe genotypic and phenotypic variation among participants and explore genotype-phenotype correlation in PKD.
  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Pyruvate Kinase Deficiency of all ages
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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02053480

Contacts
Contact: Rachael F Grace, MD, MMSc 617-632-3528 Rachael.Grace@childrens.harvard.edu
Contact: Jill Falcone, BS 617-919-2145 Jill.Falcone@childrens.harvard.edu

  Show 27 Study Locations
Sponsors and Collaborators
Boston Children’s Hospital
Agios Pharmaceuticals, Inc.
  More Information

Responsible Party: Rachael Grace, Principal Investigator, PKD Natural History Study, Children's Hospital Boston
ClinicalTrials.gov Identifier: NCT02053480     History of Changes
Other Study ID Numbers: P00010515 
Study First Received: January 28, 2014
Last Updated: July 25, 2016
Health Authority: United States: Institutional Review Board
Individual Participant Data  
Plan to Share IPD: No

Keywords provided by Boston Children’s Hospital:
pyruvate kinase deficiency
hemolytic anemia
anemia
enzymopathy
jaundice
splenectomy
health-related quality of life
Hematologic diseases

Additional relevant MeSH terms:
Anemia
Hemolysis
Anemia, Hemolytic
Anemia, Hemolytic, Congenital Nonspherocytic
Pyruvate Metabolism, Inborn Errors
Hematologic Diseases
Pathologic Processes
Anemia, Hemolytic, Congenital
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases

ClinicalTrials.gov processed this record on December 09, 2016