Unrelated Donor BMT for Treatment of Patients With PGK Deficiency
Completed · Not applicable
Conditions studied: Phosphoglycerate Kinase (PGK) Deficiency
In brief
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.
Key facts
- Study ID
- NCT00592540
- Run by
- Vanderbilt University
- People needed
- 2
- Starts
- 2006-06-01
- Expected to finish
- 2011-02-01
- Last updated by the study team
- 2016-11-25
Who can join
Age: 3 and older, up to 12. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Patients of either gender and between 3 and 12 years of age.
- Patients diagnosed with PGK deficiency.
You may not qualify if…
- 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.
Where it is running
- Vanderbilt Children's Hospital — Nashville, Tennessee, United States
Full record on ClinicalTrials.gov
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