MucopolysaccharidosesMPSNCT04637646
Evaluation of Cardiac Affections in Patients With Mucopolysaccharidosis (MPS) in Assuit University Children Hospital (AUCH)
An observational study of Mucopolysaccharidoses, run by Assiut University.
Trial summary
This study aims to evaluate the different cardiac changes in the various types of MPS disorder and define the outcome of these cardiac abnormalities in those patients admitted to assuit University Children Hospital Read more about this study
- Who is it for?
- Ages 1 day to 18 years
- Conditions the study is for
- Mucopolysaccharidoses
- How many people
- 25 participants
- Where
- No sites listed yet
- Study dates
- 1 Dec 2020to 29 Jan 2022
- 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 day to 18 years
- All sexes
- Child, Adult
Study population: patients with mucopolysacchridosis
Who may be able to join
- All the patients at any age up to 18 years with any type of MPS confirmed by the enzymatic assay
Who cannot join
- any patient other than MPS
Trial locations and contacts
No sites are listed yet.
About this study
This study aims to evaluate the different cardiac changes in the various types of MPS disorder and define the outcome of these cardiac abnormalities in those patients admitted to assuit University Children Hospital
Read the detailed description
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present.
Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur. Cardiac disease emerges silently and contributes significantly to early mortality. The clinical examination of individuals with MPS is often difficult due to physical and, sometimes, intellectual patient limitations. The absence of precordial murmurs does not exclude the presence of cardiac disease. Echocardiography and electrocardiography are key diagnostic techniques for evaluation of valves, ventricular dimensions and function.
- Conditions
- Mucopolysaccharidoses
- Medical subject headings
- Mucopolysaccharidoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| children with MPS | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Rate of Cardiac affection in patients with MPS
cardiac affection in MPS patients
Measured: on enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Nov 2020
- Study start1 Dec 2020 (estimated)
- Primary completion29 Dec 2021 (estimated)
- Study completion29 Jan 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MucopolysaccharidosesStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Hager Rageh Dardiry, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04637646
- Sponsor's protocol ID
- cardiac affections in MPS
- Acronym
- MPS
- Status last verified
- Nov 2020
- First submitted
- 16 Nov 2020
- Last updated
- 20 Nov 2020
- 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 20 Nov 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Cardiac Affections in Patients With Mucopolysaccharidosis (MPS) in Assuit University Children Hospital (AUCH)
- ClinicalTrials.gov ID
- NCT04637646
- Acronym / sponsor ID
- MPS / cardiac affections in MPS
- Conditions
- Mucopolysaccharidoses
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 1 Dec 2020 (estimated)
- Primary completion
- 29 Dec 2021 (estimated)
- Study completion
- 29 Jan 2022 (estimated)
- First posted
- 20 Nov 2020 (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.
This study aims to evaluate the different cardiac changes in the various types of MPS disorder and define the outcome of these cardiac abnormalities in those patients admitted to assuit University Children Hospital
Detailed description
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present.
Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur. Cardiac disease emerges silently and contributes significantly to early mortality. The clinical examination of individuals with MPS is often difficult due to physical and, sometimes, intellectual patient limitations. The absence of precordial murmurs does not exclude the presence of cardiac disease. Echocardiography and electrocardiography are key diagnostic techniques for evaluation of valves, ventricular dimensions and function.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| children with MPS | – | – |
Who may qualify
- Ages
- 1 day to 18 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- patients with mucopolysacchridosis
Key inclusion criteria (1 listed)
- All the patients at any age up to 18 years with any type of MPS confirmed by the enzymatic assay
Key exclusion criteria (1 listed)
- any patient other than MPS
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
Rate of Cardiac affection in patients with MPS
Time frame: on enrollment
cardiac affection in MPS patients
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Nov 2020.
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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 Mucopolysaccharidoses, 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 1 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 20 Nov 2020. 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 hager mohamed rageh, MBChB (01065007569, hagerdardiry@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Rate of Cardiac affection in patients with MPS (time frame: on enrollment). 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 20 Nov 2020.