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Trial record 1 of 2 for:    "phosphoglycerate kinase deficiency"
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Unrelated Donor BMT for Treatment of Patients With PGK Deficiency

This study has been completed.
Information provided by (Responsible Party):
Vanderbilt University Identifier:
First received: December 26, 2007
Last updated: November 22, 2016
Last verified: November 2016

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
Phosphoglycerate Kinase (PGK) Deficiency Procedure: Unrelated Donor BMT

Study Type: Interventional
Study Design: 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

Resource links provided by NLM:

Further study details as provided by Vanderbilt University:

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

Enrollment: 2
Study Start Date: June 2006
Study Completion Date: February 2011
Primary Completion Date: February 2011 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Unrelated Donor BMT Procedure: Unrelated Donor BMT
Unrelated donor bone marrow transplantation has not been performed with these patients in the past

  Show Detailed Description


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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00592540

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


Responsible Party: Vanderbilt University Identifier: NCT00592540     History of Changes
Other Study ID Numbers: 060486
Study First Received: December 26, 2007
Last Updated: November 22, 2016 processed this record on September 21, 2017