An Evaluation of Nutritional Status, Body Composition, and Dietary Intakes of Filipino Pediatric Patients With Inborn Errors of Intermediary Protein Metabolism

NCT07837336 | Recruiting DMC

• 1 other identifier: DOH SJREB 2026-20
• Study Type: observational
• Target: 176
• Locations: 1 country
• Sites: 14

Brief Summary

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.

Conditions

Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors

Keywords

Metabolism, Inborn Errors; Amino Acid Metabolism, Inborn Errors; Nutritional Status; Dietary Intake; Filipino Pediatric Patients

Outcome Measures

Primary Outcomes (11)

• 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).

  Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

• 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).

  Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

• 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).

  Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

• 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).

  Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

• Head circumference (in centimeters) and age (in years and months) will be combined to report Head circumference-for-Age in Z-score

  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).

  Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

• Fat Mass in percentage and in kilograms

  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.

  Month 0 (Baseline) and Month 12 (Endline)

• Lean Mass in kilograms

  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.

  Month 0 (Baseline) and Month 12 (Endline)

• Bone Mineral Density (BMD) in g/cm²

  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.

  Month 0 (Baseline) and Month 12 (Endline)

• Mean Dietary Intake in kilocalories and grams per day

  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.

  Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

• Diet Adequacy in percentage

  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).

  Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

• Protein-to-Energy Ratio (P:E Ratio) in grams protein/100 kilocalories/ day

  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.

  Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

Secondary Outcomes (8)

• 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)

Other Outcomes (6)

• Mean Age at Diagnosis of IEIPM Participants in years and months

  Month 0 (Baseline)

• Mean Age at Onset of Symptoms of IEIPM Participants in years and months

  Month 0 (Baseline)

• Mean Age at Initiation of Treatment of IEIPM Participants in years and months

  Month 0 (Baseline)

Study Arms (2)

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

Eligibility Criteria

• Age: 0 Months - 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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

You may not qualify if:

• 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
• 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
• 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

Sponsors & Collaborators

• Food and Nutrition Research Institute, Philippines: lead
• 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

Study Sites (14)

Batangas Medical Center

Batangas, Batangas, 4200, Philippines

NOT YET RECRUITING

Bulacan Medical Center

Malolos, Bulacan, 3000, Philippines

RECRUITING

General Emilio Aguinaldo Memorial Hospital

Trece Martires, Cavite, 4109, Philippines

RECRUITING

Vicente Sotto Memorial Medical Center

Cebu, Cebu, 6000, Philippines

NOT YET RECRUITING

Dr. Jose P. Rizal Memorial District Hospital

Calamba, Laguna, 4027, Philippines

RECRUITING

University of the Philippines, Philippine General Hospital

Manila, Manila, 1000, Philippines

RECRUITING

Northern Mindanao Medical Center

Cagayan de Oro, Misamis Oriental, 9000, Philippines

RECRUITING

Taguig City Health Centers

City of Taguig, National Capital Region, 1633, Philippines

NOT YET RECRUITING

Parañaque Health Centers

Paranaque City, National Capital Region, 1711, Philippines

RECRUITING

Pateros Health Centers

Pateros, National Capital Region, 1620, Philippines

RECRUITING

Philippine Children's Medical Center

Quezon City, National Capital Region, 1105, Philippines

NOT YET RECRUITING

Dr. Paulino J. Garcia Memorial Research and Medical Center

Cabanatuan City, Nueva Ecija, 3100, Philippines

RECRUITING

Jose B. Lingad Memorial General Hospital

San Fernando City, Pampanga, 2000, Philippines

RECRUITING

Quezon Medical Center

Lucena City, Quezon, 4301, Philippines

RECRUITING

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MeSH Terms

Conditions

Metabolism, Inborn Errors; Amino Acid Metabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Jason Paolo H. Labrador, RND, MSPH

  Department of Science and Technology - Food and Nutrition Research Institute

  PRINCIPAL INVESTIGATOR

• Ebner Bon G. Maceda, MD, FPPS

  University of the Philippines Manila - Institute of Human Genetics

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jason Paolo H. Labrador, RND, MSPH

CONTACT

8837-8113; jasonpaolo.labrador@fnri.dost.gov.ph

Ebner Bon G. Maceda, MD, FPPS

CONTACT

63 2 8526-1725; egmaceda@up.edu.ph

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Science Research Specialist

Study Record Dates

• First Submitted: September 9, 2026
• First Posted: September 23, 2026
• Study Start: March 10, 2026
• Primary Completion (Estimated): March 1, 2028
• Study Completion (Estimated): March 1, 2028
• Last Updated: October 1, 2026

Record last verified: 2026-09

Locations

PH (14)