Mucopolysaccharidosis (MPS)NCT07136896
Nutritional Assessment in Patient of Mucopolysaccharide "
A study testing Nutritional Assessment Protocol in people with Mucopolysaccharidosis (MPS) and Malnutrition (Calorie), run by Assiut University.
Trial summary
" Nutritional assessment in patients of Mucopolysaccharide " Read more about this study
- Who is it for?
- Ages 1 year to 18 years
- Conditions the study is for
- Mucopolysaccharidosis (MPS), Malnutrition (Calorie), Undernutrition
- What is being tested?
- Nutritional Assessment Protocol
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- No sites listed yet
- Study dates
- 16 Aug 2025to 30 Aug 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
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
-
About this study
Official title: Nutritional Assessment of Patient of Mucopolysaccharide
" Nutritional assessment in patients of Mucopolysaccharide "
Read the 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.
- Being tested
- Nutritional Assessment Protocol
- Keywords
- Caloric deficiency, Pediatric nutrition
- Medical subject headings
- Mucopolysaccharidoses, Malnutrition
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Nutritional Assessment ProtocolOther
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
| Study group | Role | What they receive |
|---|---|---|
| Nutritional Assessment in Children with Mucopolysaccharidosis | Other | 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. Receives: Other: Nutritional Assessment Protocol |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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
Measured: 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.
Measured: At baseline (upon enrollment)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Aug 2025
- Study start16 Aug 2025 (estimated)
- Primary completion30 Jul 2026 (estimated)
- Study completion30 Aug 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mucopolysaccharidosis (MPS)Studies of the same condition, open and under way.
- More trials run by Assiut UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Participants will be assigned to one of two parallel groups: children with mucopolysaccharidosis (MPS) and age-matched healthy controls. Both groups will undergo the same nutritional assessment protocol for comparison.
- Masking
- None (open label)
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Gehad Sayed Abdelbaseer, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07136896
- Sponsor's protocol ID
- Mucopolysacharidosis
- Status last verified
- Aug 2025
- First submitted
- 9 Aug 2025
- Last updated
- 22 Aug 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Nutritional Assessment of Patient of Mucopolysaccharide
- ClinicalTrials.gov ID
- NCT07136896
- Acronym / sponsor ID
- Mucopolysacharidosis
- Keywords
- Caloric deficiency, Pediatric nutrition
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 16 Aug 2025 (estimated)
- Primary completion
- 30 Jul 2026 (estimated)
- Study completion
- 30 Aug 2026 (estimated)
- First posted
- 22 Aug 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
" Nutritional assessment in patients of Mucopolysaccharide "
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 design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Participants will be assigned to one of two parallel groups: children with mucopolysaccharidosis (MPS) and age-matched healthy controls. Both groups will undergo the same nutritional assessment protocol for comparison.
| Arm | Type | Receives |
|---|---|---|
| Nutritional Assessment in Children with Mucopolysaccharidosis | Other | Other: Nutritional Assessment ProtocolParticipants 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. |
Who may qualify
- Ages
- 1 year to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Nutritional Assessment ProtocolParticipants 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 | Other | Nutritional Assessment in Children with Mucopolysaccharidosis |
Primary outcome
Prevalence of malnutrition among patients with mucopolysaccharidosis
Time frame: 1 year
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.
severity of malnutrition among patients with mucopolysaccharidosisby WHO growth standards Z-scores (weight-for-age, height-for-age, weight-for-height)
Time frame: At baseline (upon enrollment)
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
Prevalence and severity of malnutrition among patients with mucopolysaccharidosis
Time frame: At baseline (upon enrollment)
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Aug 2025.
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An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
A study testing Nutritional Assessment Protocol in people with Mucopolysaccharidosis (MPS) and Malnutrition (Calorie), run by Assiut University.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 22 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of malnutrition among patients with mucopolysaccharidosis (time frame: 1 year). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Aug 2025.