Phenylketonuria Clinical Trial
— BH4&PKUOfficial title:
Baseline Evaluation and Long-term Follow-up of Nutritional Status and Neurotransmitter Concentrations in Phenylketonuria Patients Initiating Treatment With Sapropterin Dihydrochloride (KuvanTM), a Tetrahydrobiopterin Analog.
Verified date | May 2015 |
Source | Emory University |
Contact | n/a |
Is FDA regulated | No |
Health authority | United States: Institutional Review Board |
Study type | Observational |
HYPOTHESIS: The investigators hypothesize that KuvanTM therapy could influence nutritional
and body composition parameters and neurotransmitter concentrations in pediatric and adult
PKU subjects.
SUMMARY: Though the investigators know that KuvanTM lowers blood Phe levels and improves
tolerance for natural protein in at least half of the PKU (Phenylketonuria) patient
population, investigators do not know the full effects this medicine will have on the
patient's diet, or what impact the medicine or diet changes will have on the body
composition or nutrient status of PKU patients. Since KuvanTM may also help the body produce
neurotransmitters, investigators also want to find out if taking KuvanTM changes
neurotransmitter levels in PKU patients, and if PKU patients who are benefitting from
KuvanTM feel less stigmatized and have a better outlook on life as a result of the
treatment.
Therefore, the research study has several objectives. These are to investigate the impact
KuvanTM therapy has on (1) body composition parameters of PKU patients: such as lean body
mass, percent body fat, bone density, weight gain, and growth (2) dietary changes, and the
effect of those changes, on intake of calories and essential nutrients (3) changes in blood
biomarkers of certain nutrients (4) blood and urine neurotransmitter levels, since these
changes could indicate improved neurological functioning, (5) and quality of life of PKU
patients, who may feel less burdened due to the dietary freedom KuvanTM provides.
Status | Completed |
Enrollment | 58 |
Est. completion date | October 2010 |
Est. primary completion date | October 2010 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | Both |
Age group | 4 Years and older |
Eligibility |
Inclusion Criteria: - Diagnosed with PKU - ability to provide informed consent (or have legal guardian who can provide informed consent) - at least 4 years of age - planning on trying BH4 treatment Exclusion Criteria: - Pregnant - unable to provide informed consent - less than 4 years of age - currently taking BH4 |
Observational Model: Cohort, Time Perspective: Prospective
Country | Name | City | State |
---|---|---|---|
United States | Emory Hospital, CIN/ACTSI | Atlanta | Georgia |
United States | Emory University Genetics Clinic | Decatur | Georgia |
Lead Sponsor | Collaborator |
---|---|
Emory University | Atlanta Clinical and Translational Science Institute, BioMarin Pharmaceutical |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Other | Change From Baseline in Serotonin at 12 Months | Objective: 1 year prospective cohort of PKU patients introduced to sapropterin (Kuvan)to evaluate peripheral neurotransmitter changes across time. | Baseline and 12 months | No |
Primary | Change From Baseline in BMI at 12 Months | Change in Body mass index (BMI) from baseline of Kuvan study to 12 months post-baseline | Baseline and 12 months | No |
Primary | Change From Baseline in Bone Mineral Density (BMD) at 12 Months | Change in bone mineral density (BMD) from baseline of Kuvan study to 12 months post-baseline | Baseline and 12 months | No |
Primary | Change From Baseline in Percent (%) Lean Mass at 12 Months | % lean mass was measured via dual energy x-ray absorptiometry (DXA) | Baseline and 12 months | No |
Primary | Change From Baseline in Percent (%) Fat Mass at 12 Months | Percent fat mass measured via dual energy x-ray absorptiometry (DXA) | Baseline and 12 months | No |
Primary | Change From Baseline in Plasma Phenylalanine at 12 Months | Full amino acid panel, including phenylalanine, analyzed in fasting plasma samples. | Baseline and 12 months | No |
Primary | Change From Baseline in Total Dietary Protein Intake at 12 Months | Total dietary protein intake assessed through 3-day food records - calculated as average protein intake (grams/day) in the 3 days recorded | Baseline and 12 months | No |
Primary | Change From Baseline in Phenylalanine Intake at 12 Months | Total dietary phenylalanine assessed through 3-day food records - calculated as average phenylalanine intake (grams/day) in the 3 days recorded | Baseline and 12 months | No |
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