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For more information about research, please call our main office at 412-692-6438.
Ranked #6 Nationally by U.S. News & World Report.
The Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh maintains an active basic science and clinical research program. Our research is providing new insight into genetic disorders from which new and better therapies can be developed. The laboratory research program focuses on discovering the underlying causes of genetic diseases, understanding the clinical implications of mutations in genes, and development of novel approaches for treatment of genetic disorders. An active clinical research program collaborates with other genetic programs world wide to evaluate new therapies for genetic disease.
Researchers
Clinical Studies
Research Contact Registry for Members of the Amish and Mennonite Communities
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
Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease
Trial of Gene Therapy 4D-310 in Adult Males with Classic Fabry Disease
An Observational, International, Multi-center, Long-Term Registry of Patients with Gaucher Disease
Study of the Safety and Efficacy of Ex Vivo, Lentiviral Vector-Mediated Gene Therapy AVR-RD-02 for Subjects with Type 1 Gaucher Disease
Study to Evaluate the Safety and Efficacy of Single-dose LY3884961 in Infants with Type 2 Gaucher Disease
Use of Whole Exome and Genome Sequencing to Identify New Genetic Disorders
Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities
Whole Genome Sequencing in the Intensive Care Unit Population
Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Registry and Sample Repository
Long-term Registry of Patients with Hypophosphatasia
Inborn Errors of Metabolism Information System (IBEM-IS)
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 Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy
Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP)
Investigation of the Common MELAS Mutation in the Northwestern Pennsylvania Amish Community: Mutation Frequency and Effectiveness of an Educational Intervention
Study of hLB-001 Gene Therapy in Pediatric Patients with Methylmalonic Acidemia Characterized by MMUT Mutations
A First-in-human, Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BBP-671 in Healthy Subjects and Patients with Propionic Acidemia or Methylmalonic Acidemia
Methylmalonic and Propionic Acidemias Treatment with HSTS5040: The HERO Study – Phase II
Study of Potential Treatment-Responsive Biomarkers in Hunter Syndrome
A Global, Multi-Center, Long-Term, Observational Registry of Patients with Hunter Syndrome (Mucopolysaccharidosis Type II, MPS II)
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
A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-121
Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of RGX-121 in Pediatric Subjects with MPS II (Hunter Syndrome)
Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA
Longitudinal Investigation of Neurodegenerative Disorders in Children
Early Access Program with Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the US
Study to Evaluate the Safety, Tolerability, and Efficacy of 2000 mg/kg Trappsol® Cyclo™ (Hydroxypropyl-β-cyclodextrin) and Standard of Care Compared to Placebo and Standard of Care in Patients with Niemann-Pick Disease Type C1
Whole Body Turnover Studies of 1-13C Phe in Patients with Phenylketonuria
Study of PTC923 in Subjects with Phenylketonuria (PKU)
Hepatocyte Transplantation for Phenylketonuria
Study to Evaluate the Efficacy and Safety of 24 Weeks Treatment with REN001 in Patients with Primary Mitochondrial Myopathy
Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia
Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency
Eric Goetzman, PhD Al-Walid A. Mohsen, PhD Robert Nicholls, PhD Yudong Wang, PhD
Jennifer Baker, MA Danielle Black, BS Sandra Braden, RN Michele Graham, RN Nadene Henderson, MS, LCGC Angela Leshinski, RD, LDN Jessica Lindenberger, RN Elizabeth McCracken MS, LCGC Tatiana Pomerantz, BS Catherine Walsh Vockley MS, LCGC
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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