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Pyruvate Kinase Deficiency Natural History Study (PKD NHS)

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ClinicalTrials.gov Identifier: NCT02053480
Recruitment Status : Active, not recruiting
First Posted : February 3, 2014
Last Update Posted : June 26, 2018
Sponsor:
Collaborator:
Agios Pharmaceuticals, Inc.
Information provided by (Responsible Party):
Rachael Grace, Boston Children’s Hospital

Tracking Information
First Submitted Date January 28, 2014
First Posted Date February 3, 2014
Last Update Posted Date June 26, 2018
Study Start Date December 2013
Estimated Primary Completion Date December 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 31, 2014)
transfusion burden in splenectomized and non-splenectomized participants [ Time Frame: 12 weeks ]
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT02053480 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: January 31, 2014)
  • 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 Measures Same as current
Current Other Outcome Measures Not Provided
Original Other Outcome Measures Not Provided
 
Descriptive Information
Brief Title Pyruvate Kinase Deficiency Natural History Study
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 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.
Study Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 2 Years
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Patients with Pyruvate Kinase Deficiency of all ages
Condition
  • Pyruvate Kinase Deficiency
  • Congenital Non-Spherocytic Hemolytic Anemia
Intervention Not Provided
Study Groups/Cohorts Pyruvate Kinase Deficiency
Patients of all ages with Pyruvate Kinase Deficiency
Publications * 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, Pospíšilová 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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Active, not recruiting
Estimated Enrollment
 (submitted: August 25, 2015)
250
Original Estimated Enrollment
 (submitted: January 31, 2014)
100
Estimated Study Completion Date December 2020
Estimated Primary Completion Date December 2019   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Canada,   Czechia,   Germany,   Italy,   Netherlands,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02053480
Other Study ID Numbers P00010515
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Rachael Grace, Boston Children’s Hospital
Study Sponsor Boston Children’s Hospital
Collaborators Agios Pharmaceuticals, Inc.
Investigators Not Provided
PRS Account Boston Children’s Hospital
Verification Date June 2018