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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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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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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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 (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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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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