Goals, Mission & Vision h1 >
The objectives of this project are to comprehensively and longitudinally evaluate the health, neurologic, cognitive, neuropsychiatric, patient-reported, and quality-of-life outcomes in a large cohort of individuals of all ages with PAH deficiency, with biopterin synthesis or recycling disorders, or with DNAJC12 deficiency and to explore correlations between outcomes and blood phenylalanine or other biomarkers. The consortium will also form a network of clinical trial sites prepared to readily participate in the evaluation of novel therapeutic agents designed to treat hyperphenylalaninemia disorders. The results of this study will allow refinement and improvement of current and future therapies for the most common inborn error of metabolism and the rarer conditions associated with hyperphenylalaninemia.
The PHEFREE Consortium is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Institute of Neurological Disorders and Stroke, and the National Center for Advancing Translational Sciences.
- Cognitive, behavioral, psychiatric, educational, vocational, and health outcomes in individuals with these disorders under available treatments
- Validation of phenylalanine as the most appropriate biomarker for outcomes in these disorders
- Investigation of other biomarkers
- Evaluation of therapies
- Establish a clinical trials network for evaluation of novel therapies