Metabolic Liver Disorders in ChildrenNCT06197867
The Prevalence of Metabolic Liver Disorders in Children
An observational study of Metabolic Liver Disorders in Children, run by Assiut University.
Trial summary
Aim of study : To detect the prevalence of metabolic liver disease in patients attending gastroenterology and hepatology unit at assuit university children hospital. Read more about this study
- Who is it for?
- Ages 1 month to 18 years
- Conditions the study is for
- Metabolic Liver Disorders in Children
- How many people
- 100 participants
- Where
- No sites listed yet
- Study dates
- Dec 2024to Jan 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
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 month to 18 years
- All sexes
- Child, Adult
Study population: Each child included in the study was subjected to the following : 1. Detailed history : personal ,growth and developmental, perinatal ,family history and present history ( onset ,course ,duration abdominal pain , distention , jaundice , failure to thrive ,convulsions, weight loss ,stool and urine color) 2. General examination and vital signs 3. complete physical examination 4. anthropometric measurements 5. Abdominal examination ( ascitis , petechiae hepatomegaly and splenomegaly).
Who may be able to join
- Patients with undiagnosed chronic hepatomegaly
- Patients with unexplained chronic increased liver enzymes
- Patients with undiagnosed chronic hepatomegaly or unexplained chronic increased liver enzymes and multi organ affection ( convulsions , coarse features
Who cannot join
- Patients with hepatic disorder or hepatitis with diagnosis other than metabolic ( infection ,toxic and etc …)
Trial locations and contacts
No sites are listed yet.
About this study
Official title: Prevalence of Metabolic Liver Disorders in Children Attending Gastroenterology and Hepatology Unit at Assuit University Children Hospital.
Aim of study :
To detect the prevalence of metabolic liver disease in patients attending gastroenterology and hepatology unit at assuit university children hospital.
Read the detailed description
Metabolic Liver Disease is a group of metabolic disorders that stops the liver to function or fail. These metabolic conditions affect the pathways in the liver cells - the pathways that help the body break down, absorb, process, transport, and store nutrients like amino acids, carbohydrates and fats.
Metabolic liver diseases (MLD), an inborn error of metabolism, is caused by defect of single enzyme or transport protein resulting into abnormality in synthesis or catabolism of carbohydrate, protein and fat.
The pathogenesis of MLD can be divided into three groups:
- Defect in the intermediary metabolic pathway leading to accumulation of toxic metabolite (ex : Galactosemia, Tyrosinemia type 1)
- Involvement of cellular organelles : (Wolman's disease and Zellweger's syndrome)
- Energy deficiency states (Mitochondrial or Cytoplasmic):(ex : fatty acid oxidation defects (FAOD) and the congenital lactic acidemias) The MLDs can present at any age, from prenatal, neonatal, infancy to adolescence and even adulthood, coinciding with the time of maximum catabolism. From the therapeutic point of view, the MLDs can be divided into four time periods e.g., neonatal age, at the time of infections, puberty and pregnancy. The diagnosis is often delayed as the symptoms may be intermittent, and in the period between episodes of decompensation, the patient may be free of clinical or biochemical abnormalities.
MLD can have varied presentations in infants and children, most common of them being: (i) organomegaly, (ii) encephalopathy due to hyperammonemia and/or primary lactic acidemia, (iii) pediatric acute liver failure (ALF), (iv) cirrhosis with or without portal hypertension, and (v) cholestatic liver disease.A high index of suspicion for MLD is important as urgent intervention such as dietary manipulation or disease-specific treatment may be life- saving.The outcome of patients undergoing liver transplantation for MLD has improved considerably over the last decade.Moreover, it is important to establish the correct diagnosis, so that appropriate genetic counselling can be offered to the family.MLD merit special attention in differential diagnosis of pediatric ALF, especially in infants and young children in whom they constitute 13- 43% of all cases .
MLDs represent 10-15% of all causes of acute liver failure in children <18 years old, with a mortality of 22-65%. In children <2-3 years of age, the percentage of acute liver failure caused by MLD rises to 33-53%.
- Conditions
- Metabolic Liver Disorders in Children
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of metabolic liver disorders in children
Detect prevalence of metabolic liver disorders in children aged less than 18 years with symptoms and signs of unexplained hepatic affection admitted in Assuit university children hospital
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jan 2024
- Study startDec 2024 (estimated)
- Primary completionDec 2025 (estimated)
- Study completionJan 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Metabolic Liver Disorders in ChildrenStudies 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
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Beshoi Markos Moner Mashreky, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06197867
- Sponsor's protocol ID
- Metabolic liver disorders
- Status last verified
- Feb 2024
- First submitted
- 26 Dec 2023
- Last updated
- 21 Feb 2024
- 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 21 Feb 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prevalence of Metabolic Liver Disorders in Children Attending Gastroenterology and Hepatology Unit at Assuit University Children Hospital.
- ClinicalTrials.gov ID
- NCT06197867
- Acronym / sponsor ID
- Metabolic liver disorders
- Conditions
- Metabolic Liver Disorders in Children
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- Dec 2024 (estimated)
- Primary completion
- Dec 2025 (estimated)
- Study completion
- Jan 2026 (estimated)
- First posted
- 9 Jan 2024 (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.
Aim of study :
To detect the prevalence of metabolic liver disease in patients attending gastroenterology and hepatology unit at assuit university children hospital.
Detailed description
Metabolic Liver Disease is a group of metabolic disorders that stops the liver to function or fail. These metabolic conditions affect the pathways in the liver cells - the pathways that help the body break down, absorb, process, transport, and store nutrients like amino acids, carbohydrates and fats.
Metabolic liver diseases (MLD), an inborn error of metabolism, is caused by defect of single enzyme or transport protein resulting into abnormality in synthesis or catabolism of carbohydrate, protein and fat.
The pathogenesis of MLD can be divided into three groups:
- Defect in the intermediary metabolic pathway leading to accumulation of toxic metabolite (ex : Galactosemia, Tyrosinemia type 1)
- Involvement of cellular organelles : (Wolman's disease and Zellweger's syndrome)
- Energy deficiency states (Mitochondrial or Cytoplasmic):(ex : fatty acid oxidation defects (FAOD) and the congenital lactic acidemias) The MLDs can present at any age, from prenatal, neonatal, infancy to adolescence and even adulthood, coinciding with the time of maximum catabolism. From the therapeutic point of view, the MLDs can be divided into four time periods e.g., neonatal age, at the time of infections, puberty and pregnancy. The diagnosis is often delayed as the symptoms may be intermittent, and in the period between episodes of decompensation, the patient may be free of clinical or biochemical abnormalities.
MLD can have varied presentations in infants and children, most common of them being: (i) organomegaly, (ii) encephalopathy due to hyperammonemia and/or primary lactic acidemia, (iii) pediatric acute liver failure (ALF), (iv) cirrhosis with or without portal hypertension, and (v) cholestatic liver disease.A high index of suspicion for MLD is important as urgent intervention such as dietary manipulation or disease-specific treatment may be life- saving.The outcome of patients undergoing liver transplantation for MLD has improved considerably over the last decade.Moreover, it is important to establish the correct diagnosis, so that appropriate genetic counselling can be offered to the family.MLD merit special attention in differential diagnosis of pediatric ALF, especially in infants and young children in whom they constitute 13- 43% of all cases .
MLDs represent 10-15% of all causes of acute liver failure in children <18 years old, with a mortality of 22-65%. In children <2-3 years of age, the percentage of acute liver failure caused by MLD rises to 33-53%.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 month to 18 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- Each child included in the study was subjected to the following : 1. Detailed history : personal ,growth and developmental, perinatal ,family history and present history ( onset ,course ,duration abdominal pain , distention , jaundice , failure to thrive ,convulsions, weight loss ,stool and urine color) 2. General examination and vital signs 3. complete physical examination 4. anthropometric measurements 5. Abdominal examination ( ascitis , petechiae hepatomegaly and splenomegaly).
Key inclusion criteria (3 listed)
- Patients with undiagnosed chronic hepatomegaly
- Patients with unexplained chronic increased liver enzymes
- Patients with undiagnosed chronic hepatomegaly or unexplained chronic increased liver enzymes and multi organ affection ( convulsions , coarse features
Key exclusion criteria (1 listed)
- Patients with hepatic disorder or hepatitis with diagnosis other than metabolic ( infection ,toxic and etc …)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Prevalence of metabolic liver disorders in children
Time frame: Baseline
Detect prevalence of metabolic liver disorders in children aged less than 18 years with symptoms and signs of unexplained hepatic affection admitted in Assuit university children hospital
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Feb 2024.
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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. This study is not recruiting at the moment.
Questions about this trial
What is this clinical trial studying?
An observational study of Metabolic Liver Disorders in Children, 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?
The sponsor lists 3 inclusion and 1 exclusion criteria. 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: status not confirmed, as of the sponsor's last update on 21 Feb 2024. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Beshoi Mashreky, Doctor (01210554768, Beshoimarkos7@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of metabolic liver disorders in children (time frame: Baseline). 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 21 Feb 2024.