Amino Acid Metabolism, Inborn Errors

XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny tablets, for use in the dietary management of phenylketonuria (PKU) in children aged three years and older.

In the Philippines, a disease is considered rare if it affects one in every 20,000 individuals. About 75% of rare diseases in the country, including inborn errors of intermediary protein metabolism (IEIPM), are of genetic in origin with symptoms beginning in early infancy with about 30 percent of patients dying before the age of five. Diagnosing nutritional problems in pediatrics with IEIPM is challenging due to the potential absence or masking of early signs and symptoms. Nutrition care is more difficult to manage since dietary modification for these patients require extraordinary and diligent attention as an uncontrolled or poorly managed diet can lead to severe health conditions. Its detrimental effects are irreversible and might last until adulthood affecting the overall quality of life and well-being of the child and increasing the burden on parents and families. Hence, there is a compelling impetus to gain further understanding on these aspects, particularly at the earliest stages of growth and development. However, previous studies in the Philippines that have specifically focused on the nutritional needs of pediatric patients with IEIPM are scarce. Therefore, this underscores the imperative need to carry out thorough evaluation of the nutritional characteristics of Filipino neonates, infants, children, and adolescents who have been diagnosed with IEIPM. This study will provide information on nutritional status among pediatric patients with IEIPM in the local setting. The results will form a potential basis for incorporating rare diseases in the comprehensive nutrition program at the local government units focusing on the targeted special needs of this vulnerable group. The data on the dietary intakes will provide clinicians a better picture of the overall nutritional intake and the specific nutrients that may be lacking for optimal growth and development of infants and children under a restricted special diet. Moreover, this may also provide an opportunity to evaluate the adapted nutritional management guidelines being implemented in the continuity clinics in the country. Lastlly, the knowledge that will be generated will lead to a better understanding of the relationship between nutritional status, body composition, dietary intake, and some of the important biochemical and clinical outcomes that can guide the development of appropriate nutrition policies, guidelines tailored to fit the Filipino pediatric population with IEIPM. This study on IEIPM which covers amino acid disorders, organic acidemias, and urea cycle defects, recognizes the crucial role of research in defining health programs and activities for these rare conditions in support of the Republic Act no. 10747, also known as the Rare Diseases Act of the Philippines.

The overall aim of this study is to evaluate LNAA treatment as a potential alternative to conventional dietary treatment for PKU. This study investigates the effects of LNAA treatment compared to the classic dietary treatment on cerebral dopamine synthesis in patients with classic PKU. We will assess LNAAs effectiveness on neurotransmitter synthesis, cognitive function, mental health, and safety, compared to the standard diet.

Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma. The purpose of this study is to perform a long-term analysis of a large group of individuals with various UCDs. The study will focus on the natural history, disease progression, treatment, and outcome of individuals with UCD.