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Sponsored by: |
Vanderbilt University |
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Information provided by: | Vanderbilt University |
ClinicalTrials.gov Identifier: | NCT00592540 |
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 | Intervention |
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Phosphoglycerate Kinase (PGK) Deficiency |
Procedure: unrelated donor bone marrow transplantation |
Study Type: | Interventional |
Study Design: | Treatment, Open Label, Single Group Assignment, Safety/Efficacy Study |
Official Title: | Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency |
Estimated Enrollment: | 2 |
Study Start Date: | June 2006 |
Estimated Study Completion Date: | December 2017 |
Estimated Primary Completion Date: | December 2017 (Final data collection date for primary outcome measure) |
Ages Eligible for Study: | 3 Years to 12 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
Exclusion Criteria:
United States, Tennessee | |
Vanderbilt Children's Hospital | |
Nashville, Tennessee, United States, 37232-6310 |
Principal Investigator: | Melissa M. Rhodes, MD | Vanderbilt Children's Hospital |
Responsible Party: | Vanderbilt Children's Hospital ( Melissa M. Rhodes, MD ) |
Study ID Numbers: | 060486 |
Study First Received: | December 26, 2007 |
Last Updated: | January 2, 2008 |
ClinicalTrials.gov Identifier: | NCT00592540 |
Health Authority: | United States: Institutional Review Board |
Anemia, Hemolytic, Congenital Phosphoglycerate kinase deficiency Genetic Diseases, Inborn Hematologic Diseases |
Anemia, Hemolytic, Congenital Nonspherocytic Anemia Anemia, Hemolytic |