Relationship Between Eating Patterns, Body Composition and the Detection of Fatty Liver in Children and Adolescents With Trisomy 21: LiverTy Project

NCT06888570 | Enrolling By Invitation

• 1 other identifier: IMD: PI-070
• Study Type: observational
• Target: 34
• Locations: 1 country
• Sites: 1

Brief Summary

Childhood obesity is a growing public health issue affecting millions of children worldwide, increasing the risk of metabolic and cardiovascular diseases in adulthood. This problem is particularly concerning in children and adolescents with Down syndrome (trisomy 21, T21), who have a higher predisposition to fat accumulation due to genetic, metabolic, and behavioral factors. However, assessing their nutritional status and body composition is challenging, as conventional tools such as body mass index (BMI) may not accurately reflect adiposity in this population. One of the most severe risks associated with obesity in children with T21 is non-alcoholic fatty liver disease (NAFLD). This condition is characterized by fat accumulation in the liver without significant alcohol consumption and is closely linked to insulin resistance, dyslipidemia, and pro-inflammatory states. If not detected early, NAFLD can progress to more severe liver diseases such as fibrosis or cirrhosis. In individuals with T21, the prevalence of NAFLD may be underestimated due to the difficulty in properly assessing body composition and metabolism. Since NAFLD diagnosis traditionally requires invasive procedures such as liver biopsy, this study proposes using non-invasive techniques, such as liver elastography, to assess liver health in children and adolescents with T21. Additionally, dietary habits will be analyzed using standardized tools to establish the relationship between nutrition, body composition, and NAFLD risk in this population. Study Hypothesis: The main hypothesis is that obesity and inadequate dietary patterns increase the risk of NAFLD in our participants with T21. The investigators also believe that liver elastography will enable the early detection of fat accumulation in the liver and other signs of liver disease, facilitating timely intervention. Study Objectives: The primary objective of this study is to evaluate the presence and severity of NAFLD in children and adolescents with T21 using non-invasive diagnostic techniques and nutritional assessment methods. Specifically, the study will analyze:

• Liver health: Measurement of liver fat and stiffness using elastography. Body composition: Anthropometric evaluation and adiposity analysis. Dietary habits: 24-hour food recall and KIDMED questionnaire to assess adherence to the Mediterranean diet.
• Relationship between obesity and NAFLD: Identification of metabolic and behavioral risk factors.

Conditions

Obesity Prevention; Pediatric Obesity; Trisomy 21; Down Syndrome (Trisomy 21); Elastography; Nutrition Assessment; Liver Diseases; Non Alcoholic Fatty Liver Disease; Body Composition

Keywords

Fibroscan; Fatty liver disease; Body composition; Trisomy 21; Down Syndrome; KIDMED questionnaire; 24-hour dietary recall; Non-invasive liver assessment; Non Alcoholic Fatty Liver Diseases; Obesity prevention; Children; Adolescents

Outcome Measures

Primary Outcomes (1)

• Liver fat content.

  To estimate liver fat content with hepatic elastography (FibroScan), CAP measurement will be used. Control population CAP value would range between 160-184 db/m and cases ≥ 184 db/m.

  3 months.

Secondary Outcomes (9)

• Body weight.

  3 months.

• Height.

  3 months.

• Body Mass Index.

  3 months.

• Waist circumference.

  3 months.

• Adipose tissue (%).

  3 months.

Study Arms (2)

Case group.

Children and adolescents (ages 5-22) with Down syndrome (T21) who may have or not have NAFLD.

Other: To evaluate fat liver content in the cases/controls population.

Control group.

Children and adolescents (ages 5-22) without Down syndrome (T21) who may have or not have NAFLD.

Other: To evaluate fat liver content in the cases/controls population.

Interventions

To evaluate fat liver content in the cases/controls population. OTHER

The studied population includes participants aged 5-22 years old with/without T21 Down Syndrome.

Case group.; Control group.

Eligibility Criteria

• Age: 5 Years - 22 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Participants will be selected who are patients at the Jerome Lejeune Foundation center or students in special education centers who wish to participate. For the control group, dissemination will be carried out among workers with children of the required age range.

You may qualify if:

• Children (5-10 years), and adolescents (11-19) andyoung adults (20-22 years) of bothSexes
• to 22 years old
• Diagnosis of trisomy 21 or other intellectual disability of genetic origin for the group of the cases.
• BMI: 17-40 Kg/m2
• Signing of the informed consent by the parents or guardians.

You may not qualify if:

• Have previous liver pathology.
• Be under any medical treatment that
• Modify composition parameters Body: GLP-1 analogues and derivatives.

Sponsors & Collaborators

• IMDEA Food: lead

Study Sites (1)

Fundación Jerome Lejeune

Madrid, Madrid, Spain

Location

Related Publications (9)

• Altavilla C, Caballero-Perez P. An update of the KIDMED questionnaire, a Mediterranean Diet Quality Index in children and adolescents. Public Health Nutr. 2019 Oct;22(14):2543-2547. doi: 10.1017/S1368980019001058. Epub 2019 May 31.

  PMID: 31146796 BACKGROUND

• Hewawitharana SC, Thompson FE, Loria CM, Strauss W, Nagaraja J, Ritchie L, Webb KL. Comparison of the NHANES dietary screener questionnaire to the Automated Self-Administered 24-Hour Recall for Children in the Healthy Communities Study. Nutr J. 2018 Nov 27;17(1):111. doi: 10.1186/s12937-018-0415-1.

  PMID: 30482218 BACKGROUND

• Arsoy HA, Kara O, Keskin M. The evaluation of non-alcoholic fatty liver disease in children with obesity with vibration-controlled transient elastography. J Clin Ultrasound. 2024 Jul-Aug;52(6):723-730. doi: 10.1002/jcu.23698. Epub 2024 Apr 18.

  PMID: 38635340 BACKGROUND

• Castera L, Friedrich-Rust M, Loomba R. Noninvasive Assessment of Liver Disease in Patients With Nonalcoholic Fatty Liver Disease. Gastroenterology. 2019 Apr;156(5):1264-1281.e4. doi: 10.1053/j.gastro.2018.12.036. Epub 2019 Jan 18.

  PMID: 30660725 BACKGROUND

• Hielscher L, Irvine K, Ludlow AK, Rogers S, Mengoni SE. A Scoping Review of the Complementary Feeding Practices and Early Eating Experiences of Children With Down Syndrome. J Pediatr Psychol. 2023 Nov 16;48(11):914-930. doi: 10.1093/jpepsy/jsad060.

  PMID: 37738668 BACKGROUND

• Vos MB, Abrams SH, Barlow SE, Caprio S, Daniels SR, Kohli R, Mouzaki M, Sathya P, Schwimmer JB, Sundaram SS, Xanthakos SA. NASPGHAN Clinical Practice Guideline for the Diagnosis and Treatment of Nonalcoholic Fatty Liver Disease in Children: Recommendations from the Expert Committee on NAFLD (ECON) and the North American Society of Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN). J Pediatr Gastroenterol Nutr. 2017 Feb;64(2):319-334. doi: 10.1097/MPG.0000000000001482.

  PMID: 28107283 BACKGROUND

• Goldner D, Lavine JE. Nonalcoholic Fatty Liver Disease in Children: Unique Considerations and Challenges. Gastroenterology. 2020 May;158(7):1967-1983.e1. doi: 10.1053/j.gastro.2020.01.048. Epub 2020 Mar 20.

  PMID: 32201176 BACKGROUND

• Bertapelli F, Pitetti K, Agiovlasitis S, Guerra-Junior G. Overweight and obesity in children and adolescents with Down syndrome-prevalence, determinants, consequences, and interventions: A literature review. Res Dev Disabil. 2016 Oct;57:181-92. doi: 10.1016/j.ridd.2016.06.018. Epub 2016 Jul 19.

  PMID: 27448331 BACKGROUND

• Pecoraro L, Ferron E, Solfa M, Mirandola M, Lauriola S, Piacentini G, Pietrobelli A. Body composition and laboratory parameters in children with down syndrome: The DONUT study. Clin Nutr ESPEN. 2023 Oct;57:253-257. doi: 10.1016/j.clnesp.2023.07.003. Epub 2023 Jul 10.

  PMID: 37739665 BACKGROUND

Related Links

• Related Info

MeSH Terms

Conditions

Pediatric Obesity; Down Syndrome; Liver Diseases; Non-alcoholic Fatty Liver Disease

Interventions

Population Control

Condition Hierarchy (Ancestors)

Obesity; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; Body Weight; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Digestive System Diseases; Fatty Liver

Intervention Hierarchy (Ancestors)

Population Dynamics; Demography; Population Characteristics; Epidemiologic Measurements; Public Health; Environment and Public Health

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Target Duration: 3 Months
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Nurse and Nutricionist

Study Record Dates

• First Submitted: February 28, 2025
• First Posted: March 21, 2025
• Study Start: March 1, 2025
• Primary Completion: June 30, 2025
• Study Completion: July 30, 2025
• Last Updated: May 2, 2025

Record last verified: 2025-04

Locations

ES (1)