Trial document

PLEASE NOTE:
This study has been imported from ClinicalTrials.gov without additional data checks.

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DRKS-ID: DRKS00006537

Trial Description

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Title

Pyruvate Kinase Deficiency (PKD) Natural History Study

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Trial Acronym

PKD NHS

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URL of the Trial

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Brief Summary in Lay Language

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.

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Brief Summary in Scientific Language

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.

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Do you plan to share individual participant data with other researchers?

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Description IPD sharing plan:

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Organizational Data

DRKS-ID: DRKS00006537
Date of Registration in DRKS: 2014/07/23
Date of Registration in Partner Registry or other Primary Registry: 2014/01/28
Investigator Sponsored/Initiated Trial (IST/IIT): yes
Ethics Approval/Approval of the Ethics Committee: [---]*
(leading) Ethics Committee No.: [---]*

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Secondary IDs

Primary Registry-ID: NCT02053480 (ClinicalTrials.gov)
Sponsor-ID: P00010515 (Children's Hospital Boston)

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Health Condition or Problem studied

Free text: Pyruvate Kinase Deficiency
Free text: Congenital Non-Spherocytic Hemolytic Anemia
ICD10: D55.2 - Anaemia due to disorders of glycolytic enzymes

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Interventions/Observational Groups

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Characteristics

Study Type: Non-interventional
Study Type Non-Interventional: Observational study
Allocation: [---]*
Blinding: [---]*
Who is blinded: [---]*
Control: [---]*
Purpose: [---]*
Assignment: [---]*
Phase: N/A
Off-label Drug use: [---]*

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Primary Outcome

- transfusion burden in splenectomized and non-splenectomized participants; time frame: 12 weeks

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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

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Countries of Recruitment

US: United States

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Locations of Recruitment

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Recruitment

Planned/Actual: [---]*
(Anticipated or Actual) Date of First Enrollment: 2013/12/31
Target Sample Size: 100
Monocenter/Multicenter trial: Multicenter trial
National/International: International

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Inclusion Criteria

Gender: Both, male and female
Minimum Age: no minimum age
Maximum Age: no maximum age

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Additional 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.

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Exclusion Criteria

- The participant or the guardian of the participant is unwilling or unable to give
written informed consent and/or assent.

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Addresses

Primary Sponsor
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- Children's Hospital Boston
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- Telephone: [---]*
- Fax: [---]*
- E-mail: [---]*
- URL: [---]*
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Collaborator, Other Address
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- Agios Pharmaceuticals, Inc.
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- Telephone: [---]*
- Fax: [---]*
- E-mail: [---]*
- URL: [---]*
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Contact for Scientific Queries
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- Rachael F Grace, MD, MMSc
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- Telephone: 617-632-3528
- Fax: [---]*
- E-mail: Rachael.Grace at childrens.harvard.edu
- URL: [---]*
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Contact for Public Queries
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- Rachael F Grace, MD, MMSc
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- Telephone: 617-632-3528
- Fax: [---]*
- E-mail: Rachael.Grace at childrens.harvard.edu
- URL: [---]*
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Sources of Monetary or Material Support

[---]*
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- Bitte wenden Sie sich an den Sponsor / Please refer to primary sponsor
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- Telephone: [---]*
- Fax: [---]*
- E-mail: [---]*
- URL: [---]*
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Status

Recruitment Status: Recruiting ongoing
Study Closing (LPLV): [---]*

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Trial Publications, Results and other Documents

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The parameters in ClinicalTrials.gov and DRKS are not identical. Therefore the data import from ClinicalTrials.gov required adjustments. For full details please see the DRKS FAQs .

Translation on version: 3
Last processed date by ClinicalTrials.gov: 2014/07/20

* This entry means the parameter is not applicable or has not been set.