Genetic and Genomic Medicine Clinical Studies at Children's Hospital

Amish & Mennonite Research Registry

Research Contact Registry for Members of the Amish and Mennonite Communities

Enzyme Deficiency Study

Laboratory Study of Acyl-CoA Dehydrogenases

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

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

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

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

Gaucher Disease Outcome Survey – The GOS Study

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

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

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

Genetic Disorder Discovery Through DNA Sequencing

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

Genetic Disorder Identification in Amish & Mennonite Communities

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

Genome Sequencing of Infants in the ICU: The PISCES Study

Whole Genome Sequencing in the Intensive Care Unit Population

Hemorrhagic Telangiectasia & Vascular Malformations Registry

Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Registry and Sample Repository

Hyperphenylalaninemia Longitudinal Study

Hypophosphatasia (HPP) Registry

Long-term Registry of Patients with Hypophosphatasia

Inborn Errors of Metabolism Registry

Inborn Errors of Metabolism Information System (IBEM-IS)

Late Infantile Metachromatic Leukodystrophy Treatment with Intrathecal SHP611 – Phase II

Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy

Long-Chain Fatty Acid Oxidation Disorder Monitoring Program

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

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

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

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

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

MPS II Biomarkers Study

Study of Potential Treatment-Responsive Biomarkers in Hunter Syndrome

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)

MPS II Treatment with DNL310 – Phase I/II

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

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

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

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)

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

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

Neurodegenerative Disorders Study

Longitudinal Investigation of Neurodegenerative Disorders in Children

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

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