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


Dietary Treatment for Fat Metabolism Disorders

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

Enzyme Deficiency Study

Laboratory Study of Acyl-CoA Dehydrogenases Read more

Methylsterol Oxidase Deficiency Study

Biochemical and Immunologic Characterization of Methylsterol Oxidase Deficiency Read more

PKU Dietary Management with Lophlex™ Nutritional Drink

A Study to Monitor Nutritional Status and Metabolic Control and Evaluate Compliance of Patients with Phenylketonuria (PKU) Using Lophlex Low-Volume PKU Drink Read more

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) Read more

Urea Cycle Disorder Treatment with HPN-100 – Phase III

Open-Label Study of the Safety of HPN-100 for the Long-Term Treatment of Urea Cycle Disorders (HPN-007) Read more

Gerard Vockley, MD, PhD

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David Finegold, MD

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Eric Goetzman, PhD

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Al-Walid Mohsen, PhD

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Yudong Wang, PhD

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