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For more information about research, please call our main office at 412-692-6438.
Ranked #9 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.
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)
Randomized Study of Single vs. Multiple Privigen Dose Regimens in Pediatric CIDP
Laboratory Study of Acyl-CoA Dehydrogenases
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
Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants with Type 2 Gaucher Disease
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
Study of Intravenous Gene Transfer with an AAVrh10 Vector Expressing GALC in Krabbe Subjects Receiving Hematopoietic Stem Cell Transplantation
Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy
Study of hLB-001 Gene Therapy in Pediatric Patients with Methylmalonic Acidemia Characterized by MMUT Mutations
Natural History Study of Children with Metachromatic Leukodystrophy
Study of Potential Treatment-Responsive Biomarkers in Hunter Syndrome
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
A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects with Severe Mucopolysaccharidosis Type II (Hunter Syndrome)
Study to Determine the Safety, Pharmacokinetics, and Pharmacodynamics of DNL310 in Pediatric Subjects with Hunter Syndrome
Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of RGX-121 in Pediatric Subjects with MPS II (Hunter Syndrome)
A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-121
Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA
Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients with Middle and Advanced Phases of MPS IIIA Disease
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)
A Prospective Clinical Study of Phenylketonuria
PKUDOS - PKU Demographics, Outcomes, and Safety Registry
Whole Body Turnover Studies of 1-13C Phe in Patients with Phenylketonuria
Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-102 in Adult PKU Subjects with PAH Deficiency
Hepatocyte Transplantation for Phenylketonuria
Study of the Efficacy and Safety of SYNB1618 in Subjects with Phenylketonuria
Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia
A Stool and Biological Specimen Sampling Study in Subjects with Propionic or Methylmalonic Acidemia
Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3927 in Participants with Propionic Acidemia
Long-Term Registry of Patients With Urea Cycle Disorders
Study to Evaluate the Efficacy and Safety of KB195 in Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care
Study of the Safety, Pharmacokinetics and Ammonia Control of RAVICTI® (Glycerol Phenylbutyrate) Oral Liquid and Sodium Phenylbutyrate in Phenylbutyrate Treatment Naïve 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.
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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.