Center for Rare Disease Therapy

The Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh 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.

Clinical Studies

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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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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Gaucher Disease Enzyme Replacement Therapy Registry

Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease

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Gaucher Disease Treatment with PR001A: The PROVIDE Study – Phase I/II

Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants with Type 2 Gaucher Disease

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*Immunodeficiency and End-Stage Lung Disease Treatment with BOLT+BMT Procedure

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

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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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Krabbe Disease Treatment with FBX-101 Gene Transfer Therapy: The RESKUE Study – Phase I/II

Study of Intravenous Gene Transfer with an AAVrh10 Vector Expressing GALC in Krabbe Subjects Receiving Hematopoietic Stem Cell Transplantation

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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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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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Metachromatic Leukodystrophy Progression Study

Natural History Study of Children with Metachromatic Leukodystrophy

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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) 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 & 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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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 – 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 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 IIIA Treatment with ABO-102 – Phase I/II

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

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MPS IIIA Treatment with ABO-102 for Middle and Advanced Disease Stages – Phase I/II

Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients with Middle and Advanced Phases of MPS IIIA Disease

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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 Health Monitoring Study

A Prospective Clinical Study of Phenylketonuria

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PKU Registry

PKUDOS - PKU Demographics, Outcomes, and Safety Registry

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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 HMI-102 Gene Therapy: The pheNIX Study – Phase I/II

Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-102 in Adult PKU Subjects with PAH Deficiency

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PKU Treatment with SYNB1618 – Phase II

Study of the Efficacy and Safety of SYNB1618 in Subjects with Phenylketonuria

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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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Propionic Acidemia & Methylmalonic Acidemia Specimen Sampling Study

A Stool and Biological Specimen Sampling Study in Subjects with Propionic or Methylmalonic Acidemia

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Propionic Acidemia Treatment with mRNA-3927 – Phase I/II

Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3927 in Participants with Propionic Acidemia

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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 KB195: The UNLOCKED Study – Phase II

Study to Evaluate the Efficacy and Safety of KB195 in Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care

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Urea Cycle Disorder Treatment with Glycerol Phenylbutyrate & Sodium Phenylbutyrate – Phase IV

Study of the Safety, Pharmacokinetics and Ammonia Control of RAVICTI® (Glycerol Phenylbutyrate) Oral Liquid and Sodium Phenylbutyrate in Phenylbutyrate Treatment Naïve Patients with Urea Cycle Disorders

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