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

Dietary Treatment for Fat Metabolism Disorders

Dietary Therapy for Inherited Disorders of Energy Metabolism, Including Mitochondrial Fat Oxidation and Glycogenoses

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Enzyme Deficiency Study

Laboratory Study of Acyl-CoA Dehydrogenases

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Methylsterol Oxidase Deficiency Study

Biochemical and Immunologic Characterization of Methylsterol Oxidase Deficiency

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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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Gerard Vockley, MD, PhD

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Jane M Breck, MD, FAAP

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Areeg Hassan El-Gharbawy, MD

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Eric S. Goetzman, PhD

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Lina Ghaloul Gonzalez, MD

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Suneeta Madan, MD

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Al-Walid A. Mohsen, PhD

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Damara Nicole Ortiz, MD

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Yudong Wang , PhD

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