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N/A N=58

Nutritional and Neurotransmitter Changes in PKU Subjects on BH4

Phenylketonuria

Enrolled (actual)
58
Serious AEs
0.0%
Results posted
Aug 2014
Primary outcome: Primary: Change From Baseline in BMI at 12 Months — -0.65574 kg/m^2 — p=0.692782

Study Design & Population

Study type
Observational
Phase
N/A
Interventions
KuvanTM Therapy (Drug)
Age
Pediatric, Adult, Older Adult · 4+ yrs
Sex
All
Sponsor
Emory University
Primary completion
Oct 2010

Outcome Measures

OutcomeResultp-value
PRIMARY
Change From Baseline in BMI at 12 Months
-0.65574 0.692782
PRIMARY
Change From Baseline in Bone Mineral Density (BMD) at 12 Months
0.005401 <0.001 sig
PRIMARY
Change From Baseline in Percent (%) Lean Mass at 12 Months
2.419224 0.017941 sig
PRIMARY
Change From Baseline in Percent (%) Fat Mass at 12 Months
1.208889 0.026009 sig
PRIMARY
Change From Baseline in Plasma Phenylalanine at 12 Months
-67.5187 0.303864
PRIMARY
Change From Baseline in Total Dietary Protein Intake at 12 Months
-10.9549 0.00088 sig
PRIMARY
Change From Baseline in Phenylalanine Intake at 12 Months
0.131676 0.3811

Summary

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.

Eligibility Criteria

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
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT00688844). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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