Medical Genetics Clinical Studies

Some of the many research opportunities available in Medical Genetics are listed below. Select a study to review a brief description and requirements. Parents or guardians of children who might be eligible are encouraged to inquire about enrollment. Contact information is listed at the end of each study.

Thank you for exploring these opportunities and helping us to find cures and prevent childhood disease.

Clinical Studies

Researchers

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 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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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 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 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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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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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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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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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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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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