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For more information about research, please call our main office at 412-692-6438.
Ranked #8 Nationally by U.S. News & World Report.
The Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh 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.
Doctors
Locations
Clinical Studies
A Preliminary Study of the Efficacy and Safety of Carbamazepine in Severe Liver Disease Due to Alpha-1-Antitrypsin Deficiency
Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)
Dietary Therapy for Inherited Disorders of Energy Metabolism
Laboratory Study of Acyl-CoA Dehydrogenases
Extension Study to Evaluate the Long-Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease
Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta
Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease
Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Bilateral Orthotopic Lung Transplant (BOLT) in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant (BMT) From Partially HLA-Matched Cadaveric Donors
DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment
The Natural History of Infantile Globoid Cell Leukodystrophy
Extension Study in Subjects with Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies
Natural History Study of Children with Metachromatic Leukodystrophy
Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase® in Pediatric Patients with Hunter Syndrome and Cognitive Impairment
Extension of Study HGT-HIT-094 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment
Study of Reduced-Intensity Conditioning In Patients With Non-Malignant Disorders Undergoing Umbilical Cord, Bone Marrow, or Peripheral Blood Stem Cell Transplantation
Pediatric Longitudinal Cohort Study of Chronic Pancreatitis (INSPPIRE 2)
PKUDOS - PKU Demographics, Outcomes, and Safety Registry
Burden of PAH Deficiency/PKU Among Adults: A Retrospective Chart Review and Cross-sectional Patient Survey
Long-Term Registry of Patients With Urea Cycle Disorders
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh One Children’s Hospital Way 4401 Penn Ave. Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With myCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.