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Unrelated Donor BMT for Treatment of Patients With PGK Deficiency

This study is ongoing, but not recruiting participants.
Sponsor:
Information provided by:
Vanderbilt University
ClinicalTrials.gov Identifier:
NCT00592540
First received: December 26, 2007
Last updated: May 12, 2011
Last verified: May 2011
  Purpose

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 bone marrow transplantation

Study Type: Interventional
Study Design: Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: 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 ] [ Designated as safety issue: No ]

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)
Intervention Details:
    Procedure: unrelated donor bone marrow transplantation
    Unrelated donor bone marrow transplantation has not been performed with these patients in the past
  Show Detailed Description

  Eligibility

Ages Eligible for Study:   3 Years to 12 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

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 ClinicalTrials.gov identifier: NCT00592540

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

Publications:

Responsible Party: Melissa M. Rhodes, MD, Vanderbilt Children's Hospital
ClinicalTrials.gov Identifier: NCT00592540     History of Changes
Other Study ID Numbers: 060486
Study First Received: December 26, 2007
Last Updated: May 12, 2011
Health Authority: United States: Institutional Review Board

ClinicalTrials.gov processed this record on November 24, 2014