Pyruvate Kinase Deficiency Natural History Study

Status Completed

Clinical Trial 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.

Clinical Trial 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 Design

Related Conditions & MeSH terms

Anemia
Anemia, Hemolytic
Congenital Non-Spherocytic Hemolytic Anemia
Hemolysis
Pyruvate Kinase Deficiency

Clinical Trial Details

NCT number	NCT02053480
Study type	Observational [Patient Registry]
Source	Boston Children’s Hospital
Contact
Status	Completed
Phase
Start date	December 2013
Completion date	May 2020

View Details

See also
Status	Clinical Trial	Phase
Active, not recruiting	`NCT03853798` - Extension Study of AG-348 in Adult Participants With Pyruvate Kinase Deficiency Previously Enrolled in AG-348-006 or AG348-C-007	Phase 3
Completed	`NCT03559699` - A Study Evaluating the Efficacy and Safety of AG-348 in Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)	Phase 3
Active, not recruiting	`NCT02476916` - A Study of AG-348 in Adult Participants With Pyruvate Kinase (PK) Deficiency	Phase 2
Active, not recruiting	`NCT04105166` - Gene Therapy for Pyruvate Kinase Deficiency (PKD)	Phase 1
Enrolling by invitation	`NCT05777993` - A Study to Provide Continued Access to Mitapivat for Participants Who Previously Completed an Agios-Sponsored Mitapivat Study	Phase 4
Terminated	`NCT04964323` - Pyruvate Kinase (PK) Deficiency Global Longitudinal Registry: Patient-Reported Outcomes (PRO)
Completed	`NCT04995315` - Pyruvate Kinase Deficiency Global Longitudinal Registry Substudy of Protocol AG348-C-008
Completed	`NCT03866590` - Pyruvate Kinase Deficiency Epidemiological Study (PIECE)
Recruiting	`NCT04902833` - Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms
Completed	`NCT03548220` - A Study to Evaluate Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)	Phase 3
Recruiting	`NCT03481738` - Pyruvate Kinase Deficiency Global Longitudinal Registry

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

Pyruvate Kinase Deficiency Natural History Study — PKD NHS

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms