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For more information about research, please call our main office at 412-692-6438.
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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.
Research Contact Registry for Members of the Amish and Mennonite Communities
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
Study of Elelyso™ (Taliglucerase Alfa) in Pediatric Subjects with Type 1 Gaucher Disease
Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease
An Observational, International, Multi-center, Long-Term Registry of Patients with 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
Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
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
Extension Study in Subjects with Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies
Investigation of the Common MELAS Mutation in the Northwestern Pennsylvania Amish Community: Mutation Frequency and Effectiveness of an Educational Intervention
Natural History Study of Children with Metachromatic Leukodystrophy
MaP: Mapping the Patient Journey in Methylmalonic and Propionic Acidemia, A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients with Organic Acidemias
Biochemical and Immunologic Characterization of Methylsterol Oxidase Deficiency
31P NMR Evaluation of ATP Production in Individuals With Mitochondrial Disease
Study of RTA 408 in the Treatment of Mitochondrial Myopathy (MOTOR)
A Global, Multi-Center, Long-Term, Observational Registry of Patients with Hunter Syndrome (Mucopolysaccharidosis Type II, MPS II)
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
Morquio A Registry Study (MARS)
Mucopolysaccharidosis Type VI Clinical Surveillance Program
Longitudinal Investigation of Neurodegenerative Disorders in Children
Study in Adult Patients with Type I, III or IV Osteogenesis Imperfecta Treated With BPS804
Clinical and Basic Investigations into Phosphomannomutase Deficiency
PKUDOS - PKU Demographics, Outcomes, and Safety Registry
Burden of PAH Deficiency/PKU Among Adults: A Retrospective Chart Review and Cross-sectional Patient Survey
Developing Clinically Relevant Endpoints for Primary Mitochondrial Disorders: Biological and Clinical Biomarkers of Disease
Extension Trial to Characterize the Long-Term Safety and Tolerability of Subcutaneous Elamipretide in Subjects with Genetically Confirmed Primary Mitochondrial Disease
Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia
Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency
Sjögren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation, and Evaluation of Biochemical Markers
Long-Term Registry of Patients With Urea Cycle Disorders
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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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.