Nutritional Assessment in Patient of Mucopolysaccharide "

Nutritional Assessment of Patient of Mucopolysaccharide

" Nutritional assessment in patients of Mucopolysaccharide "

Study Overview

• Status: Not yet recruiting
• Conditions: Undernutrition; Malnutrition (Calorie); Mucopolysaccharidosis (MPS)
• Intervention / Treatment: Other: Nutritional Assessment Protocol

Detailed Description

The mucopolysaccharidoses (MPS) are lysosomal diseases caused by the deficiency of enzymes required for the stepwise breakdown of glycosaminoglycans (GAGs), previously known as mucopolysaccharides, Fragments of partially degraded GAGs accumulate in the lysosomes, resulting in cellular dysfunction and clinical abnormalities The main GAG chains are degraded by 11 lysosomal hydrolases enzymes gives rise to the progressive accumulation of GAGs in most tissues and organ systems, as well as in urine Individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive "coarse" facial features, and abnormalities of the skeleton especially joint problems. Additional findings include short stature, heart abnormalities, breathing irregularities, hepatosplenomegaly and neurological abnormalities. The severity of the different MPS disorders varies greatly among affected individuals, even among those with the same type of MPS and even among individuals of the same family.

In most cases of MPS, affected infants appear normal at birth and symptoms become apparent around the age of one or two, however, in MPS VII, approximately 40% of pregnancies with an affected baby are complicated by a condition called non-immune hydrops fetalis. Mild forms of these disorders may not become apparent until childhood or adolescence. In most cases, the mucopolysaccharidoses are chronic, progressive disorders and, depending upon the type of MPS and severity, affected individuals may experience a decline in physical and mental function, sometimes resulting in life-threatening complications.

Nutritional assessment in MPS focuses on identifying and addressing potential deficiencies and challenges related to the disease's impact on growth, development, and feeding. This involves evaluating dietary intake, assessing growth parameters, and monitoring for specific nutrient deficiencies, particularly those impacting bone health and overall metabolic function The dietetic treatment of MPS does not only aim to correct diarrhea and constipation but also help in the consistency of the dysphagia treatment probable adequacy in vitamin (B1, B2, and B3) levels since they are largely spread in the food. These vitamins may participate in energetic metabolism, in redox reactions. In this regard, niacin plays a critical role in nucleic acids, fatty acids and cholesterol synthesis, DNA repair, and steroid hormones production.

• Study Type: Interventional
• Enrollment (Estimated): 40
• Phase: Not Applicable

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:Confirmed diagnosis of mucopolysaccharidosis (any subtype) by enzymatic assay or genetic testing

Age between 1 and 18 years

Stable clinical condition at time of enrollment

Informed consent obtained from parent/guardian, and assent from child when applicable -

Exclusion Criteria:Presence of other chronic conditions affecting growth or nutrition (e.g., untreated endocrine disorders, severe cardiac failure unrelated to MPS)

Acute illness or hospitalization within the last 2 weeks prior to assessment

Patients who received nutritional supplementation or dietary intervention within 3 months prior to enrollment that could affect baseline nutritional assessment

Refusal or inability to comply with study assessments

-

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Nutritional Assessment in Children with Mucopolysaccharidosis; Participants diagnosed with Mucopolysaccharidosis will undergo detailed nutritional assessment, including anthropometric measurements, skinfold thickness evaluation, and bioelectrical impedance analysis. Dietary intake will be recorded, and relevant biochemical parameters will be measured.	Other: Nutritional Assessment Protocol; Participants will undergo a comprehensive nutritional assessment, including anthropometric measurements (weight, height, BMI, skinfold thickness), dietary intake evaluation through 24-hour recall, and bioelectrical impedance analysis to assess body composition. Relevant biochemical parameters will also be measured to evaluate nutritional status

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Prevalence of malnutrition among patients with mucopolysaccharidosis	The percentage of patients diagnosed with malnutrition, as determined using the World Health Organization (WHO) growth standards. Malnutrition will be defined based on weight-for-age, height-for-age, and weight-for-height Z-scores below -2 standard deviations. Data will be collected at baseline and expressed as a percentage of the study population.	1 year
severity of malnutrition among patients with mucopolysaccharidosisby WHO growth standards Z-scores (weight-for-age, height-for-age, weight-for-height)	Severity of malnutrition will be assessed using the Gomez classification based on weight-for-age percentage of the median for the reference population. Categories include: mild (75-89%), moderate (60-74%), and severe (<60%). Data will be expressed as the proportion of patients in each severity category at baseline	At baseline (upon enrollment)
Prevalence and severity of malnutrition among patients with mucopolysaccharidosis	The proportion of patients diagnosed with mucopolysaccharidosis (MPS) who present with any degree of malnutrition, categorized as mild, moderate, or severe according to WHO growth standards. Severity will be determined using anthropometric indices (weight-for-age, height-for-age, BMI-for-age z-scores, and mid-upper arm circumference) and compared across disease subtypes and age groups.	At baseline (upon enrollment)

Collaborators and Investigators

• Sponsor: Assiut University

Study record dates

Study Major Dates

• Study Start (Estimated): August 16, 2025
• Primary Completion (Estimated): July 30, 2026
• Study Completion (Estimated): August 30, 2026

Study Registration Dates

• First Submitted: August 9, 2025
• First Submitted That Met QC Criteria: August 15, 2025
• First Posted (Actual): August 22, 2025

Study Record Updates

• Last Update Posted (Actual): August 22, 2025
• Last Update Submitted That Met QC Criteria: August 15, 2025
• Last Verified: August 1, 2025

More Information

Terms related to this study

• Keywords: Caloric deficiency; Pediatric nutrition
• Additional Relevant MeSH Terms: Nutrition Disorders; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Malnutrition; Mucopolysaccharidoses
• Other Study ID Numbers: Mucopolysacharidosis

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No