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Center for Rare Disease Therapy

Description of Services

Center for Rare Disease Therapy at Children

The Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC consists of international experts focused on treating children with rare diseases, defined by leading standards of care, pioneering protocols, and individualized services in a world-class environment.

The center is focused on treating patients who are diagnosed with the following groups of inherited metabolic disorders and their related diseases:

  • Inborn Errors of Protein Metabolism
  • Inborn Errors of Immunity
  • Inborn Errors of Lysosomal Metabolism
  • Inborn Errors of Energy Metabolism
  • Inborn Errors of Bile Formation


Therapies of Today and Tomorrow

  • Children’s is a leading international center for liver transplantation as a cure or treatment for metabolic disease, having transplanted more patients with metabolic disease than any other center, including adult facilities
  • Children’s has treated 10 to 12 non-malignant patients per year with stem cell transplants resulting in a <5 percent mortality at 100 days
  • Innovative surgical techniques to improve the quality of life for children with rare disease such as cutting edge corneal transplants
  • Children’s is one of a few centers in the world that offers total pancreatectomy with islet cell autotransplant for children with chronic pancreatitis
  • Utilizing reduced-toxicity/intensity in unrelated donor, cord blood transplantation for inborn errors
  • Exceptional medical management of metabolic patients leading to better outcomes and successful transplantation when warranted
  • Approved and experimental enzyme replacement therapies for inborn errors of metabolism
  • Food and Drug Administration (FDA)-approved clinical trials for novel therapies for fatty acid oxidation disorders
  • Stem cell transplantation trial for children and young adults to treat refractory Crohn’s disease
  • Hepatocyte transplantation therapy for inborn errors of metabolism including urea cycle disorders and PKU, and acute hepatic failure in patients with metabolic disorders
  • NIH-funded study to test the possibility that the commonly used mood-stabilizer, Carbamazepine, can reverse liver disease due to alpha-1-antitrypsin deficiency
  • FDA-approved study of sequential lung and bone marrow transplantation from the same cadaveric donor
  • Groundbreaking transplant research, including advances in immunosuppression withdrawal or minimization, transplant tolerance, and optimizing long-term transplant outcomes

Learn more about the rare diseases and conditions we treat.

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Last Update
August 3, 2015