Diabetes Mellitus, Type 1NCT03607604
Application of UCPCR as a Testing Tool for Identification of MODY Patients in the UAE
An observational study of Diabetes Mellitus, Type 1 and Diabetes Mellitus, Type 2, run by Imperial College London Diabetes Centre at 1 site in United Arab Emirates.
Trial summary
The study aims to investigate the validity of 2 hour post-prandial UCPCR test in paediatric and adult patients with diabetes duration greater than 2 and 5 years, respectively, for the purposes of distinguishing between patients with type 1 diabetes and MODY in the UAE population. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Maturity-onset Diabetes of the Young
- What is being tested?
- Next generation sequencing (NGS)
- How many people
- 778 participants
- Where
- 1 siteUnited Arab Emirates
- Study dates
- 1 Apr 2015to 31 Dec 2021
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients attending Imperial College London Diabetes Centre, UAE.
Who may be able to join
- patients with age and age of diabetes onset of <18 years
- patients with age of ≥18 years and age of diabetes onset of ≤30 years
Who cannot join
- patients with age of ≥18 years and age of diabetes onset of >30 years
Trial locations and contacts
1 site in 1 country.
United Arab Emirates1 site
Imperial College London Diabetes Centre
Abu Dhabi, 48338
About this study
The study aims to investigate the validity of 2 hour post-prandial UCPCR test in paediatric and adult patients with diabetes duration greater than 2 and 5 years, respectively, for the purposes of distinguishing between patients with type 1 diabetes and MODY in the UAE population.
Read the detailed description
Urinary C-peptide creatinine ratio (UCPCR) is a non invasive measure of endogenous insulin secretion and has been shown to be effective in identifying Maturity Onset Diabetes of the Young (MODY) from Type 1 Diabetes in adults and paediatric population. Here in the UAE, diabetes prevalence is at 18.9% of the general population and patients are medically treated according to their diabetes type. Currently identification of patients with MODY poses multiple challenges and in some instances results in wrongful diagnosis and treatment of the patients. Most commonly, patients are treated as having type 1 diabetes and given unnecessary insulin injections.
Making correct diabetes diagnosis is pivotal for appropriate disease management. Currently, a set of criteria including age of onset of diabetes (<30 years), BMI<25kg/m2 and absence of islet-cell and GAD auto-antibodies are applied in order to identify potential Maturity Onset Diabetes of the Young (MODY) patients. This has to be followed by genetic testing before final diagnosis is made. Although the set criteria increase the probability of identifying MODY patients, fully discriminating between MODY and type 1 diabetes can still be difficult. As such, some MODY patients (e.g. with mutations in HNF1A or HNF4A genes) are wrongfully treated with insulin when sulphonylureas would be efficient enough for management of their diabetes.
This study will consists of three groups; patients who are autoantibody negative (divided into patients with potential MODY and patients with type 2 diabetes), patients diagnosed with type 1 diabetes and patients who do not have diabetes at the time of recruitment (selected randomly and will include patients with other diagnoses such as IFG and/or IGT). All groups will consist of paediatric patients (≤18 years of age) and adult patients (age of onset of diabetes ≤ 30 years).
The scientific aims of the study are:
- Validating UCPCR as an in-house test that can potentially be used for clinical purposes.
- Measuring UCPCR in the study cohort and testing if a cutoff of 0.7nmol/mmol in children and 0.2nmol/mmol in adults will apply to population of interest (ie UAE population).
- Using operating characteristic curves to identify the optimal UCPCR cut-off for discriminating diabetes subtypes in.
- Confirming the UCPCR results through genetic analysis of the samples.
- Validating positive genetic test results by performing mutational analysis on the parents of the patient.
- Potentially identifying novel MODY mutations in the study population.
- conducting UCPCR measurements for patients who have been clinically and genetically diagnosed with MODY. This will assist the investigators in confirming the cutoff values for MODY diagnosis.
- Successfully estimating the background prevalence of MODY in diabetes patients in the Emirates of Abu Dhabi.
- Conditions
- Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Maturity-onset Diabetes of the Young
- Being tested
- Next generation sequencing (NGS)
- Keywords
- MODY, Diabetes Mellitus, UCPCR, Monogenic Diabetes
- Medical subject headings
- Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Mason-Type Diabetes, Diabetes Mellitus
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Next generation sequencing (NGS)Genetic
Also called NGS panel, Whole exome/genome sequencing (WES/WGS)
Patients will be tested for known MODY genes with specific focus on HNF1A, GCK and HNF4A genes. Furthermore, gene panel testing may be performed for any known diabetes genes.If the results are negative, WES/WGS will be performed in patients suspected of having MODY for identification of novel MODY mutations.
| Study group | Role | What they receive |
|---|---|---|
| Autoantibody Negative | Patients who are autoantibody negative (could potentially be either MODY or type 2 diabetes patients)
Suspected MODY patients will be candidates for next generation sequencing (NGS) Receives: Genetic: Next generation sequencing (NGS) | |
| Diabetes Mellitus, Type 1 | Patients diagnosed with type 1 diabetes mellitus
Patients with positive UCPCR and negative autoantibodies results will be suspected with MODY and will be candidates for next generation sequencing (NGS) Receives: Genetic: Next generation sequencing (NGS) | |
| Non Diabetic | Individuals not diagnosed with any type of diabetes (but could be diagnosed with IFG and/or IGT) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Urinary C-peptide Creatinine Ratio (UCPCR)
Measuring UCPCR in our study cohort and testing if a cutoff of 0.7nmol/mmol in children and 0.2nmol/mmol in adults will apply to our population of interest (ie UAE population).
Measured: 2 hours post-prandial
Secondary outcomes (6)
Receiver operating characteristic (ROC) curve
Using receiver operating characteristic (ROC) curves to identify the optimal UCPCR cut-off for discriminating diabetes subtypes in our study population.
Measured: through study completion, an average of 1 year
Genetic analysis
Confirming our UCPCR results through genetic analysis of the samples.
Measured: through study completion, an average of 2 year
Positive genetic result analysis
Validating positive genetic test results by performing mutational analysis on the parents of the patient.
Measured: through study completion, an average of 2 year
Novel MODY genes and mutations
Identifying novel MODY genes and/or mutations in the study population through next generation sequencing methodologies
Measured: through study completion, an average of 2 year
UCPCR measurements
Conducting UCPCR measurements for patients who have been clinically and genetically diagnosed with MODY. This will assist us in confirming the cutoff values for MODY diagnosis.
Measured: through study completion, an average of 2 year
Prevalence of MODY
Estimating the background prevalence of MODY in diabetes patients in the Emirates of Abu Dhabi.
Measured: through study completion, an average of 2 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Jul 2018
- Study start1 Apr 2015
- Primary completion31 Dec 2021 (estimated)
- Study completion31 Dec 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Diabetes Mellitus, Type 1Studies of the same condition, open and under way.
- 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
- Cross-sectional
- Enrolment
- 778 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Imperial College London Diabetes Centre
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Nader Lessan, MBBS FRCP MD, Principal investigator, Imperial College London Diabetes Centre
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03607604
- Sponsor's protocol ID
- IREC018
- Status last verified
- Aug 2020
- First submitted
- 26 Jun 2018
- Last updated
- 19 Aug 2020
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Aug 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Application of UCPCR as a Testing Tool for Identification of MODY Patients in the UAE
- ClinicalTrials.gov ID
- NCT03607604
- Acronym / sponsor ID
- IREC018
- Conditions
- Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Maturity-onset Diabetes of the Young
- Keywords
- MODY, Diabetes Mellitus, UCPCR, Monogenic Diabetes
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 778 participants (estimated)
- Lead sponsor
- Imperial College London Diabetes CentreUniversity, hospital or other
- Study start
- 1 Apr 2015 (actual)
- Primary completion
- 31 Dec 2021 (estimated)
- Study completion
- 31 Dec 2021 (estimated)
- First posted
- 31 Jul 2018 (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.
The study aims to investigate the validity of 2 hour post-prandial UCPCR test in paediatric and adult patients with diabetes duration greater than 2 and 5 years, respectively, for the purposes of distinguishing between patients with type 1 diabetes and MODY in the UAE population.
Detailed description
Urinary C-peptide creatinine ratio (UCPCR) is a non invasive measure of endogenous insulin secretion and has been shown to be effective in identifying Maturity Onset Diabetes of the Young (MODY) from Type 1 Diabetes in adults and paediatric population. Here in the UAE, diabetes prevalence is at 18.9% of the general population and patients are medically treated according to their diabetes type. Currently identification of patients with MODY poses multiple challenges and in some instances results in wrongful diagnosis and treatment of the patients. Most commonly, patients are treated as having type 1 diabetes and given unnecessary insulin injections.
Making correct diabetes diagnosis is pivotal for appropriate disease management. Currently, a set of criteria including age of onset of diabetes (<30 years), BMI<25kg/m2 and absence of islet-cell and GAD auto-antibodies are applied in order to identify potential Maturity Onset Diabetes of the Young (MODY) patients. This has to be followed by genetic testing before final diagnosis is made. Although the set criteria increase the probability of identifying MODY patients, fully discriminating between MODY and type 1 diabetes can still be difficult. As such, some MODY patients (e.g. with mutations in HNF1A or HNF4A genes) are wrongfully treated with insulin when sulphonylureas would be efficient enough for management of their diabetes.
This study will consists of three groups; patients who are autoantibody negative (divided into patients with potential MODY and patients with type 2 diabetes), patients diagnosed with type 1 diabetes and patients who do not have diabetes at the time of recruitment (selected randomly and will include patients with other diagnoses such as IFG and/or IGT). All groups will consist of paediatric patients (≤18 years of age) and adult patients (age of onset of diabetes ≤ 30 years).
The scientific aims of the study are:
- Validating UCPCR as an in-house test that can potentially be used for clinical purposes.
- Measuring UCPCR in the study cohort and testing if a cutoff of 0.7nmol/mmol in children and 0.2nmol/mmol in adults will apply to population of interest (ie UAE population).
- Using operating characteristic curves to identify the optimal UCPCR cut-off for discriminating diabetes subtypes in.
- Confirming the UCPCR results through genetic analysis of the samples.
- Validating positive genetic test results by performing mutational analysis on the parents of the patient.
- Potentially identifying novel MODY mutations in the study population.
- conducting UCPCR measurements for patients who have been clinically and genetically diagnosed with MODY. This will assist the investigators in confirming the cutoff values for MODY diagnosis.
- Successfully estimating the background prevalence of MODY in diabetes patients in the Emirates of Abu Dhabi.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Autoantibody Negative | – | Genetic: Next generation sequencing (NGS)Patients who are autoantibody negative (could potentially be either MODY or type 2 diabetes patients) Suspected MODY patients will be candidates for next generation sequencing (NGS) |
| Diabetes Mellitus, Type 1 | – | Genetic: Next generation sequencing (NGS)Patients diagnosed with type 1 diabetes mellitus Patients with positive UCPCR and negative autoantibodies results will be suspected with MODY and will be candidates for next generation sequencing (NGS) |
| Non Diabetic | – | –Individuals not diagnosed with any type of diabetes (but could be diagnosed with IFG and/or IGT) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients attending Imperial College London Diabetes Centre, UAE.
Key inclusion criteria (2 listed)
- patients with age and age of diabetes onset of <18 years
- patients with age of ≥18 years and age of diabetes onset of ≤30 years
Key exclusion criteria (1 listed)
- patients with age of ≥18 years and age of diabetes onset of >30 years
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 |
|---|---|---|
| Next generation sequencing (NGS)Also: NGS panel, Whole exome/genome sequencing (WES/WGS)Patients will be tested for known MODY genes with specific focus on HNF1A, GCK and HNF4A genes. Furthermore, gene panel testing may be performed for any known diabetes genes.If the results are negative, WES/WGS will be performed in patients suspected of having MODY for identification of novel MODY mutations. | Genetic | Autoantibody Negative, Diabetes Mellitus, Type 1 |
Primary outcome
Urinary C-peptide Creatinine Ratio (UCPCR)
Time frame: 2 hours post-prandial
Measuring UCPCR in our study cohort and testing if a cutoff of 0.7nmol/mmol in children and 0.2nmol/mmol in adults will apply to our population of interest (ie UAE population).
6 secondary outcomes
Receiver operating characteristic (ROC) curve
Time frame: through study completion, an average of 1 year
Genetic analysis
Time frame: through study completion, an average of 2 year
Positive genetic result analysis
Time frame: through study completion, an average of 2 year
Novel MODY genes and mutations
Time frame: through study completion, an average of 2 year
UCPCR measurements
Time frame: through study completion, an average of 2 year
Prevalence of MODY
Time frame: through study completion, an average of 2 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Aug 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.
Nader Lessan, MBBS FRCP MD principal investigator
Imperial College London Diabetes Centre
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Diabetes Mellitus, Type 1 and Diabetes Mellitus, Type 2, run by Imperial College London Diabetes Centre at 1 site in United Arab Emirates.
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 2 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 19 Aug 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Arab Emirates. Whether a site is taking part right now should be confirmed with that site. See every site.
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?
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?
Urinary C-peptide Creatinine Ratio (UCPCR) (time frame: 2 hours post-prandial). 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 19 Aug 2020.