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.
Confirmed to have Amino Acid Disorders, Organic Acidurias, and Urea Cycle Defects by newborn screening or by biochemical testing in urine or plasma
Included in the metabolic registry of the Institute of Human Genetics-National Institutes of Health (IHG-NIH) and seen at the identified Newborn Screening Continuity Clinics (study sites)
With at least one (1) month of active medical treatment and/or with regular follow-up
The participant/parent/guardian or any legally acceptable representative consented to participate in the study
With co-existing conditions not part of IEIPM and its complications (i.e. multiple congenital anomalies, hypoxic-ischemic encephalopathy, central brain abnormalities, any diagnosed systematic organic illness (e.g., renal, heart, or thyroid disease) or any suspected acute metabolic conditions other than IEIPM;
Currently enrolled in other research studies with intervention study design
Apparently healthy children, ages 0 month to 18 years and 364 days old at the time of the study recruitment;
Without any diagnosed genetic and/or metabolic disorders
The study will involve 140 Filipino pediatric patients with IEIPM from the identified eleven (11) Newborn Screening Continuity Clinics (NBSCC) from NCR, Region III, IV-A, VII, and X. The 36 age- and sex-matched controls will be recruited from the health centers of Taguig, Pateros, and Parañaque in Metro Manila.
Cohort
Prospective
Not listed
Weight (in kilograms) and age (in years and months) will be combined to report Weight-for-Age in Z-score
Weight will be measured using a digital baby weighing scale (SECA 354) for children younger than 2 years of age and a double-window digital weighing scale (SECA 874) for children older than 2 years of age. This indicator will be used in children aged 0-10 years. The z-scores will be obtained using the World Health Organization (WHO) Child Growth Standards 2006 and Growth Reference 2007 to determine if the child is normal (-2SD to +2SD), underweight (\<-2SD), or severely underweight (\<-3SD).
Height/Length (in centimeters) and age (in years and months) will be combined to report Height/Length-for-Age in Z-score
Height/length will be measured using an infantometer (SECA 416/417) for children younger than 2 years of age and a stadiometer (SECA 213 I) for children older than 2 years of age. The z-scores will be obtained using the WHO Child Growth Standards 2006 and Growth Reference 2007 to determine if the child is normal (-2SD to +2SD), stunted (\<-2SD), or severely stunted (\<-3SD).
Weight (in kilograms) and height (in centimeters) will be combined to report Weight-for-Height in Z-score
This indicator will be used in children aged 0-5 years. The z-scores will be obtained using the WHO Child Growth Standards 2006 to determine if the child is severely wasted (\<-3SD), wasted (\<-2SD), normal (-2SD to +2SD), overweight (\>+2SD), or obese (\>+3SD).
Weight (in kilograms), height (in meters), and age (in years and months) will be combined to report BMI-for-Age in Z-score
Body Mass Index (BMI) will be calculated based on weight and height (kg/m²). The z-scores will be obtained using the WHO Growth Reference 2007 to determine if the child is severely wasted (\<-3SD), wasted (\<-2SD), normal (-2SD to +2SD), overweight (\>+2SD), or obese (\>+3SD).
Plasma Amino Acid concentration in umol/L
Levels of free amino acids in the blood plasma will be quantitatively measured. Three (3) mL of whole blood in sodium heparin will be obtained through venipuncture.
Anemia (Low hemoglobin concentration in g/dL)
The amount of whole blood in Ethylenediaminetetraacetic acid (EDTA) obtained through venipuncture or finger prick that will be used for analysis is 0.5 mL. To be identified if anemia is present in an individual, hemoglobin levels are low. The values should be below the normal results of the following based on age and sex: 11.0 g/dL for children aged 6 months to 6 years old,12.0 g/dL for 6 to 14 years old,13.0 g/dL for males 15 years old and above, and 12.0 g/dL for females 15 years old and above.
Serum Vitamin A concentration in µg/dL
The amount of serum from clotted whole blood obtained through venipuncture that will be used for analysis is 0.5 mL. Retinol values will be considered high if results of participants are greater than 50 µg/dL.
Serum 25-hydroxyvitamin D concentration in nmol/L
The amount of serum from clotted whole blood that will be used for analysis is 0.3 mL. Normal vitamin D levels lie between the values of 75.0-100.0 nmol/L. Results of 74.0 nmol/L and below are considered deficient, while 101.0 nmol/L and above are considered elevated.
Mean Age at Diagnosis of IEIPM Participants in years and months
The mean age at diagnosis will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form.
Mean Age at Onset of Symptoms of IEIPM Participants in years and months
The mean age at onset of symptoms will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form.
Mean Age at Initiation of Treatment of IEIPM Participants in years and months
The mean age at the initiation of treatment will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form.
Proportion of IEIPM Participants with a History of Inborn Errors of Metabolism (IEM) in the Family (in percentage)
The history of IEM in the family will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form.
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Food and Nutrition Research Institute, Philippines
Lead sponsor
Philippine Council for Health Research & Development
Collaborator
Philippine Children's Medical Center
Collaborator
Vicente Sotto Memorial Medical Center
Collaborator
Northern Mindanao Medical Center, Cagayan de Oro City
Collaborator
University of the Philippines Manila - Philippine General Hospital
Collaborator
