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RecruitingNCT07837336Project SIBSUpdated Oct 1, 2026

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

An observational study in Metabolism, Inborn Errors and Amino Acid Metabolism, Inborn Errors, sponsored by Food and Nutrition Research Institute, Philippines. Recruiting at 14 sites in Philippines. Open to participants aged 0 Months to 18 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-01.

Primary conditionAmino Acid Metabolism, Inborn ErrorsRegistry: Metabolism, Inborn ErrorsReclassifiedWhy we changed it
Registry
Metabolism, Inborn Errors — the first condition term the registry derived for this study.
ClinicalTrials.gg
Amino Acid Metabolism, Inborn Errors
Why
  1. The study's listed conditions name Amino Acid Metabolism, Inborn Errors, a narrower term within Metabolism, Inborn Errors.
Confidence
High: the new condition is named in the study's own listed conditions. Of 351 hand-checked studies reclassified this way, 68% were exactly right and 84% in the right disease family; the registry's first term was right for 5% (measured 2026-10-21). How we classify →
Wrong?
Tell us the study's main condition →

Sponsored by Food and Nutrition Research Institute, Philippines · Observational

From the registry’s dates

  • Started Mar 2026; still recruiting 8 months later.
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
176
Ages
0 Months to 18 Years
Sex
All
01

Study 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.

Read the detailed description

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:

  1. 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;
  2. 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;
  3. To determine the association between nutritional status and body composition with dietary intakes, selected biochemical and clinical parameters;
  4. 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
  5. To determine caregivers' experiences, perceptions, and practices related to the dietary management of Maple Syrup Urine Disease (MSUD).
02

Conditions studied

  • Metabolism, Inborn Errors
  • Amino Acid Metabolism, Inborn Errors

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Keywords

  • Metabolism, Inborn Errors
  • Amino Acid Metabolism, Inborn Errors
  • Nutritional Status
  • Dietary Intake
  • Filipino Pediatric Patients
03

In context

Amino Acid Metabolism, Inborn Errors Reclassified

15 studies on the registry are indexed under Amino Acid Metabolism, Inborn Errors; 7 are open to participants now.

Browse Amino Acid Metabolism, Inborn Errors studies →

Lead sponsor

Food and Nutrition Research Institute, Philippines is the lead sponsor of 7 studies on the registry; 4 are open to participants now.

Compared within Amino Acid Metabolism, Inborn Errors, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Metabolism, Inborn Errors. The counts are of registry records indexed under each term, refreshed daily. How we classify →

04

Who can participate

Ages eligible
0 Months to 18 Years
Sexes eligible
All
Accepts healthy volunteers
Yes
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.

Eligibility criteria

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

Exclusion Criteria

  • 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
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
176 participants (estimated)
Patient registry
No

Groups and cohorts

  • 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

06

What researchers measure

Primary outcomes

  1. 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).

    Time frame: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

  2. 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).

    Time frame: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

  3. 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).

    Time frame: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

  4. 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).

    Time frame: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

  5. 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).

    Time frame: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

  6. 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.

    Time frame: Month 0 (Baseline) and Month 12 (Endline)

  7. 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.

    Time frame: Month 0 (Baseline) and Month 12 (Endline)

  8. 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.

    Time frame: Month 0 (Baseline) and Month 12 (Endline)

  9. 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.

    Time frame: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

  10. 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).

    Time frame: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

  11. 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.

    Time frame: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

Secondary outcomes

  1. 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.

    Time frame: Month 0 (Baseline) and Month 12 (Endline)

  2. 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.

    Time frame: Month 0 (Baseline) and Month 12 (Endline)

  3. 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.

    Time frame: Month 0 (Baseline) and Month 12 (Endline)

  4. 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.

    Time frame: Month 0 (Baseline) and Month 12 (Endline)

  5. Serum Vitamin B12 concentration in pmol/L

    The amount of serum from clotted whole blood obtained from venipuncture that will be used for analysis is 0.3 mL. Vitamin B12 values are increased when results are above 652 pmol/L.

    Time frame: Month 0 (Baseline) and Month 12 (Endline)

  6. Serum Zinc 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. Normal values of zinc are grouped physiologically and by the time of sample extraction, considering also whether the individual fasted or not. For children aged 10 and below, non-fasting samples are extracted, and results showing concentrations below 65 µg/dL (AM) and 57 µg/dL (PM) are considered deficient. For females aged more than 10 years, results showing concentrations of zinc in the fasting sample below 70 µg/dL and in the non-fasting sample with results below 66 µg/dL(AM) and 59 µg/dL (PM) are considered deficient. For males aged more than 10 years, results showing concentrations of zinc in fasting samples below 74 µg/dL, non-fasting samples with results below 70 µg/dL(AM), and 61 µg/dL (PM) are considered deficient.

    Time frame: Month 0 (Baseline) and Month 12 (Endline)

  7. Serum Folic Acid concentration in nmol/L

    Levels of folic acid are measured quantitatively. The amount of serum from clotted whole blood obtained by venipuncture that will be used for analysis is 0.3 mL.

    Time frame: Month 0 (Baseline) and Month 12 (Endline)

  8. Overall Risk of Malnutrition

    The overall risk of malnutrition will be evaluated using the Pediatric Subjective Global Nutritional Assessment (PSGNA) Form. The PSGNA is used to subjectively assess the nutritional status of children who may be at risk of malnutrition through a nutrition-focused physical exam. Loss of subcutaneous fat will be checked in the orbital, buccal area, upper arm, ribs/midaxillary, and buttocks. Loss of muscle mass in the temple region, clavicle bone, acromion bone, scapular bone and spine regions, anterior thigh, patellar, and calf will be assessed. Lastly, the presence of edema will also be evaluated in the foot, ankles, and sacral area. The classification to determine the risk of malnutrition is as follows: * Normal/Well-nourished: No loss of subcutaneous fat and muscle mass, and no edema * Moderate risk: Loss of subcutaneous fat and muscle mass is observed in at least one area, and/or with edema * Severe risk: Loss of subcutaneous fat and muscle mass is observed in more than one area,

    Time frame: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

Other outcomes

  1. 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.

    Time frame: Month 0 (Baseline)

  2. 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.

    Time frame: Month 0 (Baseline)

  3. 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.

    Time frame: Month 0 (Baseline)

  4. 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.

    Time frame: Month 0 (Baseline)

  5. Current Treatments of IEIPM Participants

    The current 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.

    Time frame: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

  6. Proportion of IEIPM Participants with Clinical Presentations (in percentage)

    The presence of clinical presentations will be based on the latest available developmental assessment of the patients by their respective attending metabolic physician recorded in the medical charts kept in the NBSCCs. The clinical presentations to be documented include developmental delay/ intellectual disability, speech delay, seizures, long tract signs, hypotonia, no visual threat/dazzle, hyperactivity, microcephaly, drooling, esotropia, no reaction to sound, jitteriness, weakness, spasticity, quadriparesis, and others. This will be recorded in the medical chart extraction form.

    Time frame: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)

07

Study locations

10 of 14 sites recruiting
  • 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
    • Laura Maria Soledad A. Aguinaldo, MD, FPPS, FPSCOT, MSc · Contactlaguinaldo@up.edu.ph · (046) 419 1716
    • Jason Paolo H. Labrador, RND, MSPH · Contactjasonpaolo.labrador@fnri.dost.gov.ph · 8837-8113
    • Laura Maria Soledad A. Aguinaldo, MD, FPPS, FPSCOT, MSc · Principal investigator
  • 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
    • Ebner Bon G. Maceda, MD, FPPS · Contactegmaceda@up.edu.ph · 63 2 8526-1725
    • Kevina Mariz M. Dajoyag, RN, MSGC · Contactkmdajoyag@up.edu.ph · 63 2 8526-1725
    • Ebner Bon G. Maceda, MD, FPPS · Principal investigator
    • Kevina Mariz M. Dajoyag, RN, MSGC · Sub investigator
  • Northern Mindanao Medical Center
    Cagayan de Oro, Misamis Oriental 9000, Philippines
    Recruiting
    • Celenia-Jo S. Cagata, MD, FPPS · Contactceleniacagata.md@gmail.com · (088) 856-5490
    • Hezel F. Jurial, MD, DPPS · Contacthfjurial@up.edu.ph · (088) 856-5490
    • Celenia-Jo S. Cagata, MD, DPPS · Principal investigator
    • Hezel F. Jurial, MD, DPPS · Sub investigator
  • 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
08

References and documents

Publications

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09

Updates

1 registry update since Sep 25, 2026
Minor edits
Nothing that changes what the study is or who can join. Edited: description
1 update, last Oct 1, 2026
Show all 1 update
  1. Oct 1, 2026
    Minor edits only
    + 1 other change: description

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

10

Registry details

Key details

Study ID
NCT07837336
Lead sponsor
Food and Nutrition Research Institute, Philippines
Collaborators
Philippine Council for Health Research & Development, Philippine Children's Medical Center, Vicente Sotto Memorial Medical Center, Northern Mindanao Medical Center, Cagayan de Oro City, University of the Philippines Manila - Philippine General Hospital
Responsible party
Jason Paolo H. Labrador (Science Research Specialist, Food and Nutrition Research Institute, Philippines) — Principal investigator
First posted
Sep 23, 2026
Start date
Mar 10, 2026
Primary completion
Mar 2028 (estimated)
Completion
Mar 2028 (estimated)
Last update
Oct 1, 2026

Study contacts

Jason Paolo H. Labrador, RND, MSPH
Contact
jasonpaolo.labrador@fnri.dost.gov.ph
8837-8113 ext. local 308
Ebner Bon G. Maceda, MD, FPPS
Contact
egmaceda@up.edu.ph
63 2 8526-1725
Jason Paolo H. Labrador, RND, MSPH
principal investigator · Department of Science and Technology - Food and Nutrition Research Institute
Ebner Bon G. Maceda, MD, FPPS
principal investigator · University of the Philippines Manila - Institute of Human Genetics

Oversight

Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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