Medical Genetics Research

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

Amish & Mennonite Research Registry

Research Contact Registry for Members of the Amish and Mennonite Communities

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CIDP Treatment with Privigen – Phase IV

Randomized Study of Single vs. Multiple Privigen Dose Regimens in Pediatric CIDP

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Enzyme Deficiency Study

Laboratory Study of Acyl-CoA Dehydrogenases

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Fabry Disease Treatment with PRX102 compared to Agalsidase Beta: The BALANCE Study – Phase III

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

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Fabry Disease Treatment with ST-920 Gene Therapy – Phase I/II

Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease

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Fabry Disease Treatment Using 4D-310 Gene Therapy – Phase I/II

Trial of Gene Therapy 4D-310 in Adult Males with Classic Fabry Disease

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Gaucher Disease Outcome Survey – The GOS Study

An Observational, International, Multi-center, Long-Term Registry of Patients with Gaucher Disease

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Gaucher Disease Treatment with AVR-RD-02: The Guard1 Trial – Phase I/II

Study of the Safety and Efficacy of Ex Vivo, Lentiviral Vector-Mediated Gene Therapy AVR-RD-02 for Subjects with Type 1 Gaucher Disease

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Gaucher Disease Treatment with LY3884961: The PROVIDE Study – Phase I/II

Study to Evaluate the Safety and Efficacy of Single-dose LY3884961 in Infants with Type 2 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 & Mennonite Communities

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

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Genome Sequencing of Infants in the ICU: The PISCES Study

Whole Genome Sequencing in the Intensive Care Unit Population

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Hemorrhagic Telangiectasia & Vascular Malformations Registry

Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Registry and Sample Repository

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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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Late Infantile Metachromatic Leukodystrophy Treatment with Intrathecal SHP611 – Phase II

Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy

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Long-Chain Fatty Acid Oxidation Disorder Monitoring Program

Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP)

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MELAS Disorder in NW Pennsylvania Amish Community

Investigation of the Common MELAS Mutation in the Northwestern Pennsylvania Amish Community: Mutation Frequency and Effectiveness of an Educational Intervention

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Methylmalonic Acidemia Treatment with hLB-001 Gene Therapy: The SUNRISE Trial – Phase I/II

Study of hLB-001 Gene Therapy in Pediatric Patients with Methylmalonic Acidemia Characterized by MMUT Mutations

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Methylmalonic and Propionic Acidemias Treatment with BBP-671 – Phase I

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

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Methylmalonic and Propionic Acidemias Treatment with HSTS5040: The HERO Study – Phase II

Methylmalonic and Propionic Acidemias Treatment with HSTS5040: The HERO Study – Phase II

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MPS II Biomarkers Study

Study of Potential Treatment-Responsive Biomarkers in Hunter Syndrome

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MPS II (Hunter Syndrome) Outcome Survey – The HOS Study

A Global, Multi-Center, Long-Term, Observational Registry of Patients with Hunter Syndrome (Mucopolysaccharidosis Type II, MPS II)

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MPS II Natural History Study

A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects with Severe Mucopolysaccharidosis Type II (Hunter Syndrome)

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MPS II Treatment with DNL310 – Phase I/II

Study to Determine the Safety, Pharmacokinetics, and Pharmacodynamics of DNL310 in Pediatric Subjects with Hunter Syndrome

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MPS II Treatment with RGX-121 – Long-Term Observation

A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-121

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MPS II Treatment with RGX-121: The CAMPSIITE™ Study – Phase I/II

Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of RGX-121 in Pediatric Subjects with MPS II (Hunter Syndrome)

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MPS IIIA Treatment with ABO-102 – Phase I/II

Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA

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Neurodegenerative Disorders Study

Longitudinal Investigation of Neurodegenerative Disorders in Children

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Nieman-Pick Disease Type C Treatment with Arimoclomol

Early Access Program with Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the US

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Nieman-Pick Disease Type C1 Treatment with Trappsol® Cyclo™ – Phase III

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

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PKU Response to Liver Cell Transplant as Measured by Phe Conversion

Whole Body Turnover Studies of 1-13C Phe in Patients with Phenylketonuria

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PKU Treatment with PTC923 – Phase III

Study of PTC923 in Subjects with Phenylketonuria (PKU)

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Primary Mitochondrial Myopathy Treatment with REN001: The STRIDE Study – Phase II

Study to Evaluate the Efficacy and Safety of 24 Weeks Treatment with REN001 in Patients with Primary Mitochondrial Myopathy

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Propionic Acidemia Variant Among Amish/Mennonite – A Chart Review

Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia

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Pyruvate Dehydrogenase Complex Deficiency Treatment With Dichloroacetate – Phase III

Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency

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Additional Researchers

Eric Goetzman, PhD
Al-Walid A. Mohsen, PhD
Robert Nicholls, PhD
Yudong Wang, PhD

Research Staff

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