- I have PKU and would like to enroll in this study. How do I know if I am eligible?
- How long will you be recruiting study volunteers?
- How long will this study be?
- How many clinic visits are required during this study?
- What will happen at each research clinic visit?
- Where will the study visits take place?
- What is Indirect Calorimetry?
- What is DEXA?
- What specific tests are you running on my blood and urine?
- Will I be able to look at my personal blood and urine lab results?
- Can I have a friend, relative, or parent with me during any of the tests or procedures if I am uncomfortable?
- I will be hungry after my blood tests are done. Will there be snacks available?
- What if I forget to fast before a study visit?
- Who will be managing my diet during the study period?
- How do I fill out a 3-day diet record?
- If my blood PHE drops less than 30%, but more than 15% while trying Kuvan, can I stay on the drug?
- After enrolling, I discovered that I am a responder to Kuvan, but I still want to stop taking it. Can I still be in the study even if I voluntarily stop Kuvan?
- At my home clinic, I tried Kuvan, and though my blood PHE dropped by more than 15%, because it was less than 30% I was considered a non-responder and had to stop Kuvan. Can I still participate in your study?
- If I am a non-responder to Kuvan, can I still stay in the study?
- Where do I mail my blood spot filter papers or study forms?
- Who do I contact if I find out I am pregnant during the study?
- Can I continue to be in the study if I find out I am pregnant?
- I am participating in the DHA trial conducted by Emory Genetics Clinic. Can I still participate in the BH4 study?
- Will participating in the study cost me anything?
- What standard care would I be getting if I were not participating in the research study, or if I decide to withdraw from the study?
- Will reimbursement for travel expenses be provided?
- How do I withdraw from the study if I no longer want to participate?
- If I withdraw from the study before my 12 month appointment, will I still be eligible to receive the $90 compensation?
- What if I am confused about how to fill out one of the study forms or questionnaires?
- How do I report a change in my phone number, email address, or mailing address?
- Who do I contact with questions or concerns I may have about the research study?
- Is there a website set up for this research study?
- Where are places I can eat at, or that I can visit, once my study appointment is over?
You are eligible if the following applies: You are at least of 5 years of age
- You have been diagnosed with Phenylketonuria
- You intend to try KuvanTM therapy
- You have not taken BH4 or KuvanTM for at least 8 weeks
- You are not pregnant
- You can provide informed consent
For 9 months from the official date in October when recruitment begins
PKU participants will be followed for 12 months from the point in time that they begin Kuvan™
Five research study visits. More standard care clinic visits may be included if recommended by an Emory Genetics Physician or Dietician. For more details, see page 11 in the log book.
Each research clinic visit will involve a blood draw and you will be asked to provide an overnight urine sample, a three day diet record, and be asked to fill out forms and questionnaires. There may be other procedures depending on which visit it is. For more details, see page 14 in the log book.
The first and final visits will be at the Emory Research Center at Emory University Hospital. We encourage overnight admission for these two visits. The other follow-up visits will most likely occur at the Emory Genetics Clinic on North Decatur Rd, Decatur GA.
Your DEXA scan will most likely be at Emory Hospital, but children may have their DEXA scans at Children’s Healthcare of Atlanta at Egleston (across the street from Emory Hospital). See page 6 of the log book.
Indirect Calorimetry measures how much energy your body uses while at rest by measuring the amount of oxygen and carbon dioxide in your breath. A machine will be used to measure your energy expenditure. The procedure is brief, painless, and non-invasive.
DEXA is a type of scan that uses weak X-rays to measure bone density as well as the amount of fat and muscle in the body. It is open air (no tube), and the procedure is brief, painless, and non-invasive.
In urine samples we are looking at the neurotransmitter levels of serotonin and catecholamines such as dopamine, epinephrine, and norepinephrine. In the blood samples, we are looking at levels of neurotransmitters, vitamins and minerals, protein status, blood PHE and Tyrosine, blood lipids, and liver enzymes.
We will be able to provide you with all of your blood lab results as soon as they are available. The only exception is blood and urine concentrations of serotonin and catecholamines. Because serotonin and catecholamine levels are being analyzed in a research lab, rather than a clinical laboratory, we may be unable to provide you the individual results.
Can I have a friend, relative, or parent with me during any of the tests or procedures if I am uncomfortable?
Yes. If you are uncomfortable with a procedure, someone may accompany you, preferably a parent or other close relative.
We will have snacks available for you once the fasting procedures are complete. If you want to be sure you get to snack on something you like, then it is best to bring your own snacks with you. You can eat them after the blood draws and indirect calorimetry are over.
We can still collect information on your height, weight, blood pressure, and quality of life as well as do your DEXA scan. We can also still collect your overnight urine sample. However, we would need to set up a second appointment very soon to collect a fasting blood sample, or to do indirect calorimetry.
The clinical dietitians at the Department of Human Genetics will work with Dr. Singh to manage your diet appropriately during the study.
Yes. Having a PHE response of greater than 15%, but less than 30% means you are a mild responder as defined by our research protocol. For as long as you are participating in the research study, as a mild responder you will have access to Kuvan™.
After enrolling, I discovered that I am a responder to Kuvan, but I still want to stop taking it. Can I still be in the study even if I voluntarily stop Kuvan?
Yes. Even if you voluntarily decide to stop Kuvan™ you can still participate in the study for the full 12 month time period.
At my home clinic, I tried Kuvan, and though my blood PHE dropped by more than 15%, because it was less than 30% I was considered a non-responder and had to stop Kuvan. Can I still participate in your study?
Yes. If you have been off of Kuvan™ for at least 8 weeks and pass the screening criteria, you can enroll in the study. You will go through another 4 week period where your response will be tested. If your plasma PHE levels drop by at least 15% during that study period, you will be allowed to stay on Kuvan™ for the entire time you are a part of the study.
Yes. For a full 12 months, we are following all the PKU subjects who try Kuvan™, even those who are non-responders and stop taking Kuvan™. However, there will be less clinic visits for nonresponders.
Please mail these to the Emory Genetics Clinic on North Decatur Road, C/O Teresa Douglas. See page 30 and 31 of the log book for more details.
Please contact either Mary Jane Kennedy or Dr. Rani Singh as soon as you find out you are pregnant. Please let us know the approximate time that you became pregnant.
No. If you discover you are pregnant during the study it is important that you let Dr. Singh or Mary Jane Kennedy know. You may be asked to withdraw from the study if it is confirmed that you are pregnant. Whether you continue Kuvan™ treatment during your pregnancy will be determined by your clinic physician after you have spoken with him/her about your pregnancy.
I am participating in the DHA trial conducted by Emory Genetics Clinic. Can I still participate in the BH4 study?
No. You will need to have completed the DHA trial before you can enroll in the BH4 study.
Volunteers will not be charged for any testing or clinic visits that are part of the research study. Those with health insurance will have their insurances billed for any testing or treatment considered to be standard care for any PKU patient trying Kuvan™. PKU subjects will not be expected to provide a copay or any financial reimbursement for standard care that is part of the research study. Subjects will still be responsible for any copays attached to their Kuvan™ or formula prescriptions.
What standard care would I be getting if I were not participating in the research study, or if I decide to withdraw from the study?
As a PKU patient, you would have your blood PHE levels monitored during your 4 week Kuvan™ trial period to determine if you are responding to the medicine. If your blood PHE levels decrease by at least 30%, your protein or dietary PHE tolerance could be tested by challenging with powdered milk. Your formula and dietary protein (PHE allowance) might then be gradually adjusted to accommodate your changes in PHE tolerance while monitoring your blood PHE levels and overall diet. This is the standard care for any PKU patient at the Emory Genetics Clinic beginning Kuvan™.
After your 12 month appointment, we will reimburse you with $90 compensation for time and travel.
At the screening visit, you will be provided with a form that you can mail to us if you decide to withdraw from the research study. This form will let us know that you no longer wish to participate in the research study. If you cannot find this form and need one, you can contact Mary Jane Kennedy or Teresa Douglas and we will provide one to you.
If I withdraw from the study before my 12 month appointment, will I still be eligible to receive the $90 compensation?
If you withdraw due to pregnancy or adverse events related to Kuvan™, you will be compensated the full $90. All other reasons for withdrawal will not guarantee compensation
Please speak to Mary Jane Kennedy or Teresa Douglas at your clinic visit, or by phone or email. They will be happy to help you out with any forms or questionnaires.
Please report changes in phone number, email, or mailing address to either Mary Jane Kennedy, Research Coordinator or to the research assistant, Teresa Douglas. Contact information is located on page 9 of the log book.
For questions about your diet or diet record contact Mary Jane Kennedy and she will connect you to an assigned dietitian.
For all other questions, contact either Mary Jane Kennedy or Teresa Douglas. If we cannot answer your question, we will refer your question to Dr. Rani Singh and get back to you. Contact information is located on page 9 of the log book.
The study website is http://www.genetics.emory.edu/research/singh/bh4-pku-study/ The study website links from the nutrition page on the Emory Department of Human Genetics website. You can also link to a summary of the research study on the http://clinicaltrials.gov website from the research study webpage.
The study webpage provides information on places to eat and things to do in or around Atlanta. There is also a list provided in the log book starting on page 50.