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.

Researchers

Clinical Studies

Amish and Mennonite Research Registry

Research Contact Registry for Members of the Amish and Mennonite Communities

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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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Genetic Disorder Discovery Through DNA Sequencing

Use of Whole Exome and Genome Sequencing to Identify New Genetic Disorders

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Genetic Disorder Identification in Amish and Mennonite Communities

Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities

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Hyperammonemia Treatment With Carbaglu - Phase II

Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia

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Hypophosphatasia (HPP) Registry

Long-term Registry of Patients with Hypophosphatasia

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Inborn Errors of Metabolism Registry

Inborn Errors of Metabolism Information System (IBEM-IS)

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Krabbe Disease and Motor Impairment Identification Using MRI

DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment

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Krabbe Disease Progression Study

The Natural History of Infantile Globoid Cell Leukodystrophy

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Long-Chain Fatty Acid Oxidation Disorder Therapy With Triheptanoin (C7) - Phase II

Extension Study in Subjects with Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies

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Metachromatic Leukodystrophy Progression Study

Natural History Study of Children with Metachromatic Leukodystrophy

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Methylsterol Oxidase Deficiency Study

Biochemical and Immunologic Characterization of Methylsterol Oxidase Deficiency

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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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Neurodegenerative Disorders Study

Longitudinal Investigation of Neurodegenerative Disorders in Children

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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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PKU Treatment with BMN 165 (rAvPAL-PEG) – Phase III

Study to Evaluate the Efficacy and Safety of Subcutaneous Injections of BMN 165 Self Administered by Adults With Phenylketonuria

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Sanfilippo B Syndrome Treatment with SBC-103 – Phase I/II

Study of Pediatric Patients with MPS IIIB to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously

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Urea Cycle Disorder Treatment With Ravicti® - Phase IV

Study of Glycerol Phenylbutyrate (GPB; Ravicti®) in Children Under 2 Years of Age with Urea Cycle Disorders

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Urea Cycle Disorder Registry: The THRIVE Study

Long-Term Registry of Patients With Urea Cycle Disorders

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Additional Researchers
Robert D. Nicholls, PhD