Ann & Robert H. Lurie Children’s Hospital of Chicago

6/25/15
PKU Clinic Update
Division of Genetics, Birth Defects and Metabolism
Ann & Robert H. Lurie Children’s Hospital of Chicago
225 E. Chicago Ave, Box #59
Chicago, IL 60611-2605

Main Genetics number, for appointments – (312) 227-6120
PKU clinic is held on Wednesday mornings
We see patients in our Westchester outpatient location every third Wednesday of the month

We have recently welcomed two new metabolic dieticians, Katie Arduini and Amanda Aspan, as well as a new social worker, Soo Shim. Our PKU Clinic staff is as follows:
Andrea Paras, MS (Clinic coordinator, genetic counselor) – (312)227-6772; aparas@luriechildrens.org
Heather Bausell RD, LDN (Metabolic dietician) – (312)227-6122; hbausell@luriechildrens.org
Katie Arduini, RD, LDN (Metabolic dietician) – (312)227-6771; karduini@luriechildrens.org
Amanda Aspan, MS RD LDN (Metabolic dietician) – (312)227-6768; aaspan@luriechildrens.org
Soo Shim, MS, LCSW (social worker) – (312)227-3386, sshim@luriechildrens.org
Barbara Burton, MD (clinic director, metabolic geneticist) – bburton@luriechildrens.org
Angela Dean (administrative assistant, receives phe levels) – (312)227-6120
Rachel Katz, MSW, LSW (Research Coordinator) – (312)227-6764; rkatz@luriechildrens.org

Education/outreach activities: We are planning an afterhours grocery store tour at Lil’s Dietary shop (the low protein food store in Chicago). This will be held on Thursday August 20th from about 6:30-8pm. Details to follow.
Research activities: We continue to recruit subjects at least 18 years of age into the Phase 3 study of the investigational drug pegvaliase ( formerly referred to as PEG-PAL) sponsored by Biomarin. It is likely that recruitment will cease within the next several months when the targeted enrollment has been reached. At that time, all enrolled subjects will be followed until the study is completed at which time the data will be analyzed and submitted to the FDA. We also continue to follow younger children enrolled in PKU-015, the study of the safety and efficacy of Kuvan in patients under six years of age, including subjects enrolled in the first year of life. Data from the first two years of the study have been published and show that the drug is safe in young children and works in the same way as it does in older individuals. Children will be monitored in the study for a total of 7 years to demonstrate that cognitive function is preserved in treated patients. We also have many patients enrolled in the registry referred to as PKU-DOS. This is a study that involves only entering information gathered during the course of routine PKU care into a central registry where it is combined anonymously with data from other clinics. There are over 1000 patients nationally in the registry, which is giving us important information about the long term effects of PKU on patients, as well as answering specific questions such as those related to the safety and efficacy of Kuvan during pregnancy.