Pyruvate Kinase Deficiency Natural History Study



Status:Active, not recruiting
Conditions:Anemia, Hematology
Therapuetic Areas:Hematology
Healthy:No
Age Range:Any
Updated:6/28/2018
Start Date:December 2013
End Date:December 2020

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Pyruvate Kinase Deficiency (PKD) Natural History Study

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.

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.

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.
We found this trial at
20
sites
1919 E Thomas Rd
Phoenix, Arizona 85006
(602) 933-1000
Principal Investigator: Christine Knoll, MD
Phone: 602-933-0171
Phoenix Children's Hospital Phoenix Children's Hospital has provided hope, healing, and the best healthcare for...
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700 Childrens Drive
Columbus, Ohio 43205
(616) 722-2000
Principal Investigator: Melissa Rose, DO
Phone: 614-722-3883
Nationwide Children's Hospital At Nationwide Children’s, we are creating the future of pediatric health care....
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Columbus, OH
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1200 Moursund Street
Houston, Texas 77030
(713) 798-4951
Principal Investigator: Jenny Despotovic, MD
Phone: 832-824-1502
Baylor College of Medicine Baylor College of Medicine in Houston, the only private medical school...
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Houston, TX
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2500 N State St
Jackson, Mississippi 39216
(601) 984-1000
Principal Investigator: Melissa Rhodes, MD
Phone: 601-984-2712
University of Mississippi Medical Center The University of Mississippi Medical Center, located in Jackson, is...
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262 Danny Thomas Pl
Memphis, Tennessee 38105
(901) 495-3300
Principal Investigator: Winfred Wang, MD
Phone: 901-595-6411
St. Jude Children's Research Hospital St. Jude is unlike any other pediatric treatment and research...
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South 34th Street
Philadelphia, Pennsylvania 19104
 215-590-1000
Principal Investigator: Janet Kwiatkowski, MD
Phone: 215-590-3582
Children's Hospital of Philadelphia Since its start in 1855 as the nation's first hospital devoted...
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Philadelphia, PA
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201 Presidents Circle
Salt Lake City, Utah 84108
801) 581-7200
Principal Investigator: Hassan Yaish, MD
Phone: 801-587-7463
University of Utah Research is a major component in the life of the U benefiting...
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Atlanta, Georgia 30322
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300 Longwood Ave
Boston, Massachusetts 02115
(617) 355-6000
Principal Investigator: Rachael F Grace, MD, MMSc
Phone: 617-919-6863
Boston Children's Hospital Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care....
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Burlington, Vermont 05405
Principal Investigator: Heather Bradeen, MD
Phone: 802-656-9913
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Chicago, Illinois 60611
Principal Investigator: Alexis Thompson, MD
Phone: 312-227-9372
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Detroit, Michigan 48201
Principal Investigator: Yaddanapudi Ravindranath, MBBS
Phone: 313-745-4276
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2301 Erwin Rd
Durham, North Carolina 27710
919-684-8111
Principal Investigator: Jennifer Rothman, MD
Phone: 919-613-4676
Duke Univ Med Ctr As a world-class academic and health care system, Duke Medicine strives...
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Hamilton, Ontario
Principal Investigator: Vicky Breakey, MD
Phone: 905-521-2100
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Kansas City, Missouri 64108
Principal Investigator: Mukta Sharma, MD, MPH
Phone: 816-302-6853
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Middlefield, Ohio 44062
Principal Investigator: Heng Wang, MD
Phone: 440-632-1668
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New York, New York 10021
Principal Investigator: Patricia Giardina, MD
Phone: 646-962-9317
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Palo Alto, California 94304
Principal Investigator: Bertil Glader, MD
Phone: 650-725-1662
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Strasburg, Pennsylvania 17579
Principal Investigator: D. Holmes Morton, MD
Phone: 413-512-1316
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Worcester, Massachusetts 01655
Principal Investigator: Peter Newburger, MD
Phone: 508-856-3077
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