Research

Clinical Investigations

Dr. Vockley continues to coordinate a vigorous program in clinical trials for the treatment of inborn errors of metabolism. A key project examines the safety and efficacy of a new enzyme replacement therapy in the treatment of phenylketonuria. CHP is an active site in the Phase II/III trials. Children’s is also active in clinical trials to examine a new medication for treatment of hyperammonemia in urea cycle defects. Additionally, Dr. Vockley’s Investigational New Drug Application was approved by the FDA for a medication to treat fatty acid oxidation disorders, and he will be taking the lead in organizing a national clinical trial of this medication.

Significantly, Dr. Vockley is the site PI for a new unique clinical research Consortium – the Sterol and Isoprenoid Diseases Research Consortium or STAIR. This consortium fosters multidisciplinary clinical research, promotes training and education and support projects to explore promising leads in the understanding, diagnostics, and treatment of sterol and isoprenoid diseases. These diseases are bound by common biochemistry, impact on health, and rarity: Cerebrotendinous Xanthomatosis (CTX), Hyperimmunoglobulinemia D with Periodic Fever Syndrome (HIDS), Niemann-Pick Disease Type C (NPC), Sitosterolemia, Sjögren-Larsson Syndrome (SLS), and Smith-Lemli-Opitz Syndrome (SLOS). Over five years, STAIR will conduct two major clinical studies (a longitudinal natural history study of NPC and a therapeutic trial to evaluate the efficacy of antioxidant therapy in SLOS, and six pilot research studies involving patients with either SLS, SLOS, CTX, HIDS or Sitosterolemia. Together with the Intramural NIH program, the Consortium will support a full-scale training program in the field of sterol and isoprenoid diseases and share its resources and data with the NIH RDCRN. Participating institutions include Oregon Health & Science University (OHSU), Eunice Kennedy Shriver National Institute of Child Health and Human Development, Children’s Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Cincinnati Children’s Hospital Medical Center, University of Nebraska Medical Center, and University of Manitoba (Canada). OHSU will be the administrative home of the Consortium. Patient support organizations (Smith Lemli Opitz/RSH Foundation, Hide & Seek Foundation, Ara Parseghian Medical Research Foundation, Dana’s Angels Research Trust, Foundation for Ichthyosis & Related Skin Types, and United Leukodystrophy Foundation) will participate in Consortium activities.

Principal Investigator
Gerard Vockley, MD, PhD

Last Update
August 13, 2010
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Last Update
August 13, 2010
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