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Genetic Cause of Rare Condition Uncovered by
Oklahoma Researchers

Genetic Research

It is a condition so rare that it has been diagnosed in only a handful of families and individuals worldwide. Now, researchers at the University of Oklahoma Health Sciences Center and the Oklahoma Medical Research Foundation have discovered that a mutation in a single gene is responsible for Stormorken syndrome as well as how that mutation causes the condition.

The groundbreaking work appears in Proceedings of the National Academy of Sciences. It all started about a year ago when OU Children's Physicians' pediatric hematologist-oncologist William Meyer, M.D., referred Isabel, a 10-year-old Oklahoma girl, to his colleague Klaas Wierenga, M.D., a medical geneticist with OU Children's Physicians...
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New Sponsored Clinical Trials in Genetics Section

Study team members: Klaas Wierenga, MD; Ashley Taylor, PA-C; Ashley Ethriedge, 
MS, RD/LD; Brenda Schlinke, RN, BSN

Klaas Wierenga, MD has teamed up with BioMarin Pharmaceuticals to provide OUHSC genetics patients access to sponsored studies. In the past, the Genetics Section has only offered investigator-initiated studies. Though these studies have been successful and beneficial for patients, opening the opportunity for national, industry-sponsored trials allows patients access to a variety of developing therapies.

Dr. Wierenga and team are currently one of 18 active sites offering a phase 3 trial for patients suffering from phenylketonuria, or PKU. The trial, Prism 301, tests the safety and efficacy of the experimental drug BMN 165.

PKU is a metabolic disorder, largely managed by manipulating the diet. However, dietary compliance tends to be low, especially in adolescents and adults. Dr. Wierenga is hopeful that BMN 165 will prove to be a life changing treatment for many patients.

“If proven safe and efficacious, this new therapy may change the life of patients with PKU,” he said. “The fact that some of our PKU patients can participate in this phase 3 trial is exciting for Oklahoma and the Genetics Section of OUHSC in particular.”

Dr. Wierenga and team will also participate in the continuation study, Prism 302, which will look at the long term tolerability of BMN 165.

Another BioMarin-sponsored study offered by the section, PKU-DOS, is a national registry of PKU patients. 

Dr. Wierenga’s study team is led by metabolic nutritionist, Ashley Ethriedge, MS, RD/LD. Ashley has worked extensively with PKU patients due to their specific dietary needs. Managing the patient’s phenylalanine (Phe) levels is an important aspect of this trial and thus Ashley’s role is crucial to the health and safety of each patient.

Ashley Taylor, PA-C
is the co-investigator for the trial and will assist Dr. Wierenga with the day-to-day clinical management of each patient within the trial.

Brenda Schlinke, RN, BSN
, will serve as the study nurse and will also manage regulatory compliance. Brenda is new to the Section, but has worked with clinical trials for a number of years at the Child Study Center.