An Evaluation of Nutritional Status, Body Composition, and Dietary Intakes of Filipino Pediatric Patients With Inborn Errors of Intermediary Protein Metabolism
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 176
- 试验地点
- 14
- 主要终点
- Weight (in kilograms) and age (in years and months) will be combined to report Weight-for-Age in Z-score
研究概览
简要总结
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. Additionally, diagnosing nutritional problems in pediatric patients with IEIPM is challenging due to the potential absence or masking of early signs and symptoms. Moreover, 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, over the past years, pediatric research on IEIPM has been limited. 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 research for neonates, infants, children, and adolescents who have been diagnosed with IEIPM. Furthermore, 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 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.
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.
详细描述
The general objective of the study is to evaluate the nutritional status, growth, body composition, selected biochemical and clinical parameters, and dietary intakes of Filipino pediatric patients, aged 0 months-18 years old, diagnosed with Inborn Errors of Intermediary Protein Metabolism (IEIPM) who are receiving medical and dietary treatment. Specifically, the study aims to:
- To compare the changes in nutritional status, body composition, dietary intake, selected biochemical, clinical parameters such as medical history and clinical presentations, anthropometric parameters such as height/length, weight and head circumference of pediatric patients diagnosed with IEIPM versus their age- and sex-matched healthy controls from baseline (month 0) to endline (month 12) assessment;
- To assess the adequacy and distribution of energy, macro-and micronutrient intake from natural food, medical food, and combination of natural and medical food consumption of pediatric patients diagnosed with IEIPM from baseline (month 0) to endline (month 12) assessment;
- To determine the association between nutritional status and body composition with dietary intakes, selected biochemical and clinical parameters;
- To determine a safe protein-energy ratio (P:E ratio) associated with optimal nutritional status, growth, and body composition among Filipino pediatric patients with IEIPM; and
- To determine caregivers' experiences, perceptions, and practices related to the dietary management of Maple Syrup Urine Disease (MSUD).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Months 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •IEIPM PATIENTS
- •Inclusion Criteria
- •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
排除标准
- •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
- •AGE- AND SEX-MATCHED HEALTHY CONTROLS
- •Inclusion Criteria
- •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
- •With normal nutritional status (based on WHO CGS and Growth Reference 2007)
- •The participant/parent/guardian or any legally acceptable representative consented to participate in the study
- •Exclusion Criteria
- •Diagnosed with any genetic and/or metabolic disorders
- •With any chronic illnesses known to affect growth and nutritional status
- •Currently enrolled in other research studies with intervention study design
研究组 & 干预措施
IEIPM patients
Eligible pediatric patients diagnosed with Inborn Errors of Intermediary Protein Metabolism
Age- and sex-matched healthy controls
Free-living age- and sex-matched healthy children
结局指标
主要结局
Weight (in kilograms) and age (in years and months) will be combined to report Weight-for-Age in Z-score
时间窗: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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
时间窗: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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
时间窗: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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
时间窗: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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).
Head circumference (in centimeters) and age (in years and months) will be combined to report Head circumference-for-Age in Z-score
时间窗: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
Head circumference will be measured using a calibrated measuring tape (SECA 212). The z-scores will be obtained using the WHO Child Growth Standards 2006 to determine if the child presented with microcephaly (\>-2SD), normal (-2SD to +2SD), or macrocephaly (\>+2SD).
Fat Mass in percentage and in kilograms
时间窗: Month 0 (Baseline) and Month 12 (Endline)
Fat mass will be measured through a Dual-Energy X-ray Absorptiometry scan using the GE Lunar Prodigy model. The values will be analyzed using Hologic Apex Software following the manufacturer's guidelines.
Lean Mass in kilograms
时间窗: Month 0 (Baseline) and Month 12 (Endline)
Lean mass will be assessed through a Dual-Energy X-ray Absorptiometry scan using the GE Lunar Prodigy model. The values will be analyzed using Hologic Apex Software following the manufacturer's guidelines.
Bone Mineral Density (BMD) in g/cm²
时间窗: Month 0 (Baseline) and Month 12 (Endline)
Bone mineral density will be assessed through a Dual-Energy X-ray Absorptiometry scan using the GE Lunar Prodigy model. The values will be analyzed using Hologic Apex Software following the manufacturer's guidelines.
Mean Dietary Intake in kilocalories and grams per day
时间窗: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
Dietary intake will be obtained using a 3-day non-consecutive food record (two weekdays and one weekend). This will be assessed using the Philippine Food Composition Tables (PhilFCT), the US FDA, and other available databases. Mean intake of energy, macro-, and micronutrients will be reported.
Diet Adequacy in percentage
时间窗: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
The adequacy of intakes will be assessed by calculating the Energy/ Nutrient Adequacy Ratio and recommended requirements will be derived from the condition-specific recommended nutrient intake by the Southeast Regional Genetics Network-Genetic Metabolic Dietitians International, WHO Guidelines, and Philippine Dietary Reference Intakes (2015).
Protein-to-Energy Ratio (P:E Ratio) in grams protein/100 kilocalories/ day
时间窗: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
The P:E ratio expressed will be derived from participants' dietary intake data and compared with the P:E ratio calculated from the 1985 FAO/WHO/UNU equation.
次要结局
- Plasma Amino Acid concentration in umol/L(Month 0 (Baseline) and Month 12 (Endline))
- Anemia (Low hemoglobin concentration in g/dL)(Month 0 (Baseline) and Month 12 (Endline))
- Serum Vitamin A concentration in µg/dL(Month 0 (Baseline) and Month 12 (Endline))
- Serum 25-hydroxyvitamin D concentration in nmol/L(Month 0 (Baseline) and Month 12 (Endline))
- Serum Vitamin B12 concentration in pmol/L(Month 0 (Baseline) and Month 12 (Endline))
- Serum Zinc concentration in µg/dL(Month 0 (Baseline) and Month 12 (Endline))
- Serum Folic Acid concentration in nmol/L(Month 0 (Baseline) and Month 12 (Endline))
- Overall Risk of Malnutrition(Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline))
研究者
Jason Paolo H. Labrador
Science Research Specialist
Food and Nutrition Research Institute, Philippines