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Unrelated Donor BMT for Treatment of Patients With PGK Deficiency

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00592540
Recruitment Status : Completed
First Posted : January 14, 2008
Last Update Posted : November 25, 2016
Information provided by (Responsible Party):
Vanderbilt University

Brief Summary:

Phosphoglycerate kinase (PGK) deficiency is a rare x-linked disorder characterized by hemolytic anemia, seizures, muscle fatigue, and progressive neurological dysfunction. The disease is caused by the deficiency of PGK, an enzyme required for ATP formation through the glycolytic pathway. PGK is an enzyme that is ubiquitous to all cells of the human body, but red blood cells, muscles, and nerve cells are most severely affected by the absence of PGK due to their reliance upon the glycolytic pathway. Mutations of the PGK gene are highly variable and result in diverse phenotypes, ranging from mild hemolytic anemia only to severe mental retardation and early death in childhood. The more severe phenotypes show progressive neurologic deterioration between infancy and adolescence.

This is a 2 patient study aimed at studying the role of stem cell transplant in PGK deficiency. Because the disease is so rare, the study will be limited to the 2 sibling patients followed by our group, though it would be open to other participants who would meet inclusion/exclusion criteria if such presented to us. The objective of this study is to evaluate the feasibility and efficacy of stem cell transplants to treat patients with PGK deficiency, Amiens subtype.

Condition or disease Intervention/treatment Phase
Phosphoglycerate Kinase (PGK) Deficiency Procedure: Unrelated Donor BMT Not Applicable

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 2 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency
Study Start Date : June 2006
Actual Primary Completion Date : February 2011
Actual Study Completion Date : February 2011

Arm Intervention/treatment
Experimental: Unrelated Donor BMT Procedure: Unrelated Donor BMT
Unrelated donor bone marrow transplantation has not been performed with these patients in the past

Primary Outcome Measures :
  1. To evaluate the feasibility and efficacy of stem cell transplants to treat two patients with PGK deficiency, Amiens subtype. [ Time Frame: 5+ years ]

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Years to 12 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Patients of either gender and between 3 and 12 years of age.
  • Patients diagnosed with PGK deficiency.

Exclusion Criteria:

  • Patients must have organ function (heart, lung, kidney, liver) that is sufficient for bone marrow transplant, determined by the standard of care for allogeneic bone marrow transplant.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00592540

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United States, Tennessee
Vanderbilt Children's Hospital
Nashville, Tennessee, United States, 37232-6310
Sponsors and Collaborators
Vanderbilt University
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Principal Investigator: Melissa M. Rhodes, MD Vanderbilt Children's Hospital


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Responsible Party: Vanderbilt University Identifier: NCT00592540    
Other Study ID Numbers: 060486
First Posted: January 14, 2008    Key Record Dates
Last Update Posted: November 25, 2016
Last Verified: November 2016