Center for Rare Disease Therapy

The Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC consists of international experts focused on treating children with rare diseases, defined by leading standards of care, pioneering protocols, and individualized services in a world-class environment.

Doctors

Locations

Clinical Studies

  • Center for Rare Disease Therapy

    Children's Hospital of Pittsburgh of UPMC
    4401 Penn Avenue
    Pittsburgh, PA 15224
    412-692-RARE (7273)
  • Alpha-1 Antitrypsin Deficiency Study – Phase II

    A Preliminary Study of the Efficacy and Safety of Carbamazepine in Severe Liver Disease Due to Alpha-1-Antitrypsin Deficiency

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    Cholestasis Long-term Observation: The LOGIC Study

    Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)

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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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    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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    Gaucher Disease Enzyme Replacement Therapy Registry

    Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease

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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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    Immunodeficiency and End-Stage Lung Disease Treatment

    Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors (BOLT+BMT)

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

    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

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    Non-Malignant Marrow Disorder Treatment using Reduced Intensity Conditioning – Phase II

    Study of Reduced-Intensity Conditioning In Patients With Non-Malignant Disorders Undergoing Umbilical Cord, Bone Marrow, or Peripheral Blood Stem Cell Transplantation

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    Pancreatitis INSPPIRE 2 Study

    Pediatric Longitudinal Cohort Study of Chronic Pancreatitis (INSPPIRE 2)

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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 Registry

    PKUDOS - PKU Demographics, Outcomes, and Safety Registry

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    PKU Retrospective Review

    Burden of PAH Deficiency/PKU Among Adults: A Retrospective Chart Review and Cross-sectional Patient Survey

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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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    Urea Cycle Disorder Registry: The THRIVE Study

    Long-Term Registry of Patients With Urea Cycle Disorders

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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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