FAQ

I have PKU and would like to enroll in this study. How do I know if I am eligible?

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

Back to top

How long will you be recruiting study volunteers?

For 9 months from the official date in October when recruitment begins

Back to top

How long will this study be?

PKU participants will be followed for 12 months from the point in time that they begin Kuvan™

Back to top

How many clinic visits are required during this study?

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.

Back to top

What will happen at each research clinic visit?

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.

Back to top

Where will the study visits take place?

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.

Back to top

What is Indirect Calorimetry?

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.

Back to top

What is DEXA?

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.

Back to top

What specific tests are you running on my blood and urine?

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.

Back to top

Will I be able to look at my personal blood and urine lab results?

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.

Back to top

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.

Back to top

I will be hungry after my blood tests are done. Will there be snacks available?

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.

Back to top

What if I forget to fast before a study visit?

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.

Back to top

Who will be managing my diet during the study period?

The clinical dietitians at the Department of Human Genetics will work with Dr. Singh to manage your diet appropriately during the study.

Back to top

How do I fill out a 3-day diet record?

Instructions for filling out a 3-day diet record begin on page 32 of the log book. We have also provided instructions on the research study website. You can also contact Mary Jane Kennedy if you have any questions about how to fill out your diet record prior to a visit. She can get you in touch with a clinic dietitian if necessary

Back to top

If my blood PHE drops less than 30%, but more than 15% while trying Kuvan, can I stay on the drug?

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™.

Back to top

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.

Back to top

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.

Back to top

If I am a non-responder to Kuvan, can I still stay in 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.

Back to top

Where do I mail my blood spot filter papers or study forms?

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.

Back to top

Who do I contact if I find out I am pregnant during the study?

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.

Back to top

Can I continue to be in the study if I find out I am 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.

Back to top

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.

Back to top

Will participating in the study cost me anything?

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.

Back to top

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™.

Back to top

Will reimbursement for travel expenses be provided?

After your 12 month appointment, we will reimburse you with $90 compensation for time and travel.

Back to top

How do I withdraw from the study if I no longer want to participate?

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.

Back to top

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

Back to top

What if I am confused about how to fill out one of the study forms or questionnaires?

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.

Back to top

How do I report a change in my phone number, email address, or mailing address?

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.

Back to top

Who do I contact with questions or concerns I may have about the research study?

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.

Back to top

Is there a website set up for this research study?

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.

Back to top

Where are places I can eat at, or that I can visit, once my study appointment is over?

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.

Back to top