Medical Genetics Research

The Division of Medical Genetics at Children’s Hospital of Pittsburgh of UPMC 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.


Clinical Studies

Energy Metabolism Disorder Therapy Using Triheptanoin (C7)

Dietary Therapy for Inherited Disorders of Energy Metabolism

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Enzyme Deficiency Study

Laboratory Study of Acyl-CoA Dehydrogenases

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Fabry Disease Long-Term Treatment with Migalastat – Phase III

Extension Study to Evaluate the Long-Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease

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Gaucher Disease Enzyme Replacement Therapy Registry

Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease

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Methylsterol Oxidase Deficiency Study

Biochemical and Immunologic Characterization of Methylsterol Oxidase Deficiency

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MPS I (Hurler, Hurler-Scheie, Scheie) Long-term Treatment with AGT-181 – Phase I

Evaluating Safety and Glycosaminoglycans in Adult Patients with Hurler-Scheie or Scheie Syndrome who have Completed 8-Weeks of Dosing with AGT-181 in Study AGT-181-102

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MPS I (Hurler, Hurler-Scheie, Scheie) Treatment with AGT-181– Phase I

Study of a Human Insulin Receptor Monoclonal Antibody-Human alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Adult Patients with Mucopolysaccharidosis Type I

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MPS II (Hunter Syndrome) Treatment with AGT-182 – Phase I

Study of a Human Insulin Receptor Monoclonal Antibody-Human Iduronate 2-Sulfatase (IDS) Fusion Protein, AGT-182 in Adult Patients with Mucopolysaccharidosis Type II

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MPS II (Hunter Syndrome) Treatment with Idursulfase-IT and Elaprase – Phase I/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

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MPS IVA (Morquio) Registry: The MARS Study

Morquio A Registry Study (MARS)

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MPS VI (Maroteaux-Lamy Syndrome) Registry

Mucopolysaccharidosis Type VI Clinical Surveillance Program

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PKU Extended Treatment with rAvPAL-PEG – Phase II

Long-Term Extension of a Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous Doses of rAvPAL-PEG in Subjects with Phenylketonuria (PAL-003)

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Additional Researchers
Robert D. Nicholls, PhD