Phenylketonurias — Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development.
Citation(s)
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Brumm VL, Grant ML The role of intelligence in phenylketonuria: a review of research and management. Mol Genet Metab. 2010;99 Suppl 1:S18-21. doi: 10.1016/j.ymgme.2009.10.015. Review.
Burgard P Development of intelligence in early treated phenylketonuria. Eur J Pediatr. 2000 Oct;159 Suppl 2:S74-9. Review.
Evans S, Daly A, MacDonald J, Pinto A, MacDonald A Fifteen years of using a second stage protein substitute for weaning in phenylketonuria: a retrospective study. J Hum Nutr Diet. 2018 Jun;31(3):349-356. doi: 10.1111/jhn.12510. Epub 2017 Sep 21.
Jani R, Coakley K, Douglas T, Singh R Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency. Mol Genet Metab. 2017 Jun;121(2):104-110. doi: 10.1016/j.ymgme.2017.04.012. Epub 2017 Apr 28.
MacDonald A, Gokmen-Ozel H, van Rijn M, Burgard P The reality of dietary compliance in the management of phenylketonuria. J Inherit Metab Dis. 2010 Dec;33(6):665-70. doi: 10.1007/s10545-010-9073-y. Epub 2010 Apr 7. Review.
Meli C, Bianca S Dietary control of phenylketonuria. Lancet. 2002 Dec 21-28;360(9350):2075-6.
Interventional studies are often prospective and are specifically tailored to evaluate direct impacts of treatment or preventive measures on disease.
Observational studies are often retrospective and are used to assess potential causation in exposure-outcome relationships and therefore influence preventive methods.
Expanded access is a means by which manufacturers make investigational new drugs available, under certain circumstances, to treat a patient(s) with a serious disease or condition who cannot participate in a controlled clinical trial.
Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.
Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.
