Information about the BH4 and
PKU Research Opportunity
Sponsored by: Singh Research Group
Emory University Department of Human Genetics
Updated on December 2nd, 2008
What is this study about and why is it
important?
• This is a twelve month clinical trial to help us understand
how KuvanTM can affect the nutrition and health of those
with PKU. This is so we can better assist the health and
nutritional needs of all PKU subjects.
• People with PKU who volunteer to participate in this study
opportunity will help us learn if, over an extended period of
time, KuvanTM can improve the following :
– Muscle mass, bone density, and growth
– Neurological functioning
– Nutritional wellbeing which will be determined by changes in
the blood levels of certain nutrients and by the nutritional
quality of your diet
– Quantity of necessary medical food (formula) and low protein
food
Has the study started?
Who are you recruiting?
• We are now recruiting and enrolling approximately 60 study
volunteers
• Recruitment and Enrollment period will last until July 2009,
or until the maximum subject enrollment number is reached
(whichever comes first)
• Subjects will be followed for 12 months from start of
KuvanTM treatment
*If you have tried KuvanTM, but were considered a
nonresponder because your drop in plasma Phe was less
than 30%, you are still eligible to participate in this study.
*For this study, if your plasma Phe drops by at least 15% you
will be considered a responder and allowed to take KuvanTM
for the full one year study period.
Location for study visits
• Most screening and study visits
will be at the Emory Department
of Human Genetics Clinic on
North Decatur Road, Decatur GA.
• For the first and last study visits
you will need to spend the night
at Emory’s clinical research center
located at Emory University
Hospital in Atlanta GA
Basic Study Design
• We are Enrolling 60 subjects with PKU
• Response to KuvanTM will be defined as a 15% or greater decrease
in plasma Phe
– NOTE: If you have tried KuvanTM and had a response greater than 15% but
less than 30% you will still qualify as a responder in this clinical trial
• Dietary PHE and medical food will be monitored during the study
• Responders and nonresponders will be followed for the full 12
months
• 5 Study visits total
1)
2)
3)
4)
5)
Screening and Baseline visit
Study follow-up: 4 weeks after starting KuvanTM
Study follow-up: 4 months after starting KuvanTM
Study follow-up: 8 months after starting KuvanTM
Final visit: 12 months after starting KuvanTM
Who can volunteer to
participate?
• Individuals with PKU who…
– Are at least 5 years of age
– Have been diagnosed with Phenylketonuria
– Intend to try KuvanTM therapy, or have tried
KuvanTM and had a plasma Phe decrease between
15% and 30%
– Have not taken BH4 or KuvanTM for at least 8 weeks.
– Are not pregnant
– Can provide informed consent, or have a parent or
legal guardian who can provide informed consent
What is going to happen at each visit?
• Study Visit 1:
– Screening and study
enrollment
– Height, weight, tape
measurements
– Blood pressure and vital
signs
– Provide overnight urine
sample
– Fasting blood sample
– Indirect Calorimetry
– DEXA
– Fill out questionnaires
• Study Visits 2,3,4:
– Same measures as Visit 1
except there will be no DEXA
or Indirect calorimetry
• Final Study Visit:
– Same measures as Visit 1,
including DEXA and Indirect
Calorimetry
Is there anything else I can expect?
• All patients at the Emory Genetics Clinic who try KuvanTM ,
regardless of participation in the research trial, will be expected
to submit filter paper blood spots and diet records for the first
few weeks they are on KuvanTM, and monthly thereafter. This
is so we can monitor your dietary PHE intake, and your blood
PHE levels since this is important to your health.
• Additional standard care visits may be scheduled by the
doctor or dietitian to properly monitor your nutrition and
health
• Patients at the Emory Genetics Clinic who try KuvanTM but
who choose not to participate in the study will be considered
responders if Plasma Phe decreases by at least 30%, which is
in agreement with the current medical standard.
Study Contact Information
• Who do I contact with questions or concerns I may
have about the research study?
– You can contact the research coordinator Mary Jane Kennedy
(404-778-8522). You may also submit questions via the BH4
and PKU study website.
• What is the website address for this research study?
– www.genetics.emory.edu/NUTRITION/BH4andPKU