The following is a list of our current clinical research trials. For more information about any of these studies, please contact study coordinator Ashley Gregor by email at gregora@ohsu.edu or by phone at 503-494-5313.

The Natural History of LCHAD Retinopathy

Purpose: The purpose of the study is to learn more about the cause of vision loss with LCHAD/TFP deficiency. We are hoping to determine what cells in the eye start the progressive vision loss associated with LCHAD/TFP deficiency and if the rate of vision loss is affected by early diagnosis, treatment regimens or age and disease severity.

Enrollment: 40 patients, ages 2 – 60 years, with TFP or LCHAD deficiency

Enrollment Status: Enrollment closed

Study sites:

• Oregon Health & Science University, Portland, OR
• University of Pittsburgh Medical Center (UPMC), Pittsburgh, PA

Duration: This study requires 2 visits to OHSU or UPMC about 2 years apart. Each visit will consist of up to 3 days of eye testing and a 4-night stay.

Safety and tolerability of oral ketones and exercise among patients with long-chain fatty acid oxidation disorders

Purpose: The purpose of the study is to determine if an oral ketone beverage is safe and well-tolerated during moderate-intensity exercise in participants with long-chain fatty acid oxidation disorders and if it will raise blood ketones to levels similar to that reported among normal healthy subjects.

Enrollment: 5 patients, ages 18 years or older, with CPT2, TFP, LCHAD or VLCAD deficiency

Enrollment status: Enrollment closed

Study sites: Oregon Health & Science University, Portland, OR

Duration: This study requires 2 visits to OHSU over 1 week.

Fatty Acid Oxidation Disorders Tissue Repository

Purpose: The purpose of the study is to establish a repository of biological samples and information from people with Fatty Acid Oxidation Disorders and information from their healthy relatives. The repository is a database that will track medical and family history information and will allow us to contact participants with new information about Fatty Acid Oxidation Disorders, including research study opportunities. By using these samples and information in future studies, our goal is to help identify new treatments for Fatty Acid Oxidation Disorders.

Enrollment: Ages 0 – 90 years with a diagnosis of a fatty acid oxidation disorder.

Enrollment status: Enrollment open

Study sites: Oregon Health & Science University, Portland, OR

Duration: Samples and health information will be stored indefinitely.