Gene Mutation in Infantile Onset Diabetes MellitusNCT03519217
Genetic Study for Infantile Onset Diabetes Mellitus
An observational study of Gene Mutation in Infantile Onset Diabetes Mellitus, run by Shimaa Kamal at 1 site in Egypt.
Trial summary
Diabetes mellitus is a group of metabolic diseases characterized by chronic hyperglycemia resulting from defects in insulin secretion, insulin action, or both. Read more about this study
- Who is it for?
- Ages 2 months to 1 year
- Conditions the study is for
- Gene Mutation in Infantile Onset Diabetes Mellitus
- How many people
- 60 participants
- Where
- 1 siteEgypt
- Study dates
- 5 Jun 2020to Dec 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 2 months to 1 year
- All sexes
- Child
Study population: Sixty diabetic patient diagnosed under the age of one year will be subjected for anti-insulin and anti-islets auto-antibodies who are negative for these test will be subjected to do genetic study.
Who may be able to join
- Diabetic patients with disease onset under the age of one year diagnosed according to American Diabetes Association criteria 2016 which include:
- Fasting plasma glucose level at or above 7.0 mmol/L (126 mg/dl).
- Plasma glucose at or above 11.1 mmol/L (200 mg/dl) two hours after a 1.75 gm/kg oral glucose load as in a glucose tolerance test.
- Symptoms of hyperglycemia and random plasma glucose at or above 11.1 mmol/L 200 mg/dl).
- Hemoglobin A1C at or above 48 mmol/mol.
Who cannot join
- Diabetic children with the disease onset above the age of one year.
- Infants with transient hyperglycemia.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Diabetes Mellitus Under the Age of One Year: Clinical Pattern, Etiological Factors and Possible Mutation in KCJN11 Gene Encoding of Adenosine Tri-phosphate Sensitive Potassium Channel Gene ( Kir6.2).
Diabetes mellitus is a group of metabolic diseases characterized by chronic hyperglycemia resulting from defects in insulin secretion, insulin action, or both.
Read the detailed description
Infantile onset diabetes mellitus is not uncommon metabolic disorder in children, with rising in the incidence in the last few years. Infants with onset of diabetes mellitus at age less than one year are likely to have transient or permanent neonatal diabetes mellitus or rarely type one diabetes, all infants with onset of diabetes at less than one year of age need to undergo genetic evaluation for monogenic diabetes as is most commonly due to activating mutations in either of the genes encoding the two subunits of the adenosine tri-phosphate-sensitive potassium channel (potassium channel, inwardly rectifying subfamily J member 11 and adenosine tri-phosphate-binding cassette, sub-family C, member 8) as those patients will respond to therapy with sulphonylurea lead to good glycemic control and management of other comorbid factors. Evaluation with auto-immune antibodies may be warranted in infants with onset of diabetes in late infancy as the chances of type 1 diabetes presenting in late infancy has been reported in the literature.
Type 1 diabetes mellitus is one of the most common endocrine and metabolic conditions in childhood.
Data from large epidemiological studies worldwide indicate that on an annual basis, the overall increase in the incidence of type one diabetes is around three percent.
There is increase in incidence of type one diabetes mellitus throughout the world especially, marked in young children, Registries in Europe suggest that incidence of type one diabetes mellitus were highest in the youngest age-group (0-4 years).
The underlying pathophysiological mechanism of the disease is cellular-mediated autoimmune destruction of the pancreatic beta-cells.
The triggers for the autoimmune attack are not fully understood, but it is now widely accepted that both environmental and genetic factors contribute to it.
The strongest gene for type one diabetes mellitus, is located in the major histocompatibility complex Class II region on chromosome 6, at staining region 6p21.
Environmental factors can influence expression of type 1 diabetes and this can be suggested by the identical twins, when one twin has type 1 diabetes, the other twin only has it 30%-50% of the time.
It has been reported that only 10% of those who are genetically predisposed to type one diabetes actually develop the disease; however, that percentage appears to be changing and environmental factors may play an increasingly important role in determining risk.
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 |
|---|---|---|
| Diabetic patients under the age of one year | All cases which are diagnosed with diabetes mellitus under the age of one year will be subjected for blood glucose level, glycated haemoglobin, fasting C-peptide, anti-insulin and anti-islets auto-antibodies, and who have negative tests for anti-insulin and anti-islets auto-antibodies, will be subjected to do genetic study for KCJN11 and ABCC8 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate possible risk factors among diabetic infants
Questionnaire to evaluate possible risk factors among diabetic infants
Measured: within six months
Secondary outcomes (1)
Detection of gene mutation responsible for infantile diabetes through gene sequencing
Gene sequencing for detection of mutation in KCJN11 gene encoding the Kir6.2 subunit of adenosine tri-phosphate sensitive potassium channel.
Measured: within six months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 May 2018
- Study start5 Jun 2020
- Primary completionMay 2022 (estimated)
- Study completionDec 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gene Mutation in Infantile Onset Diabetes MellitusStudies 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
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Shimaa Kamal
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Shimaa Kamal, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03519217
- Sponsor's protocol ID
- INFANTILE DIABETES MELLITUS
- Status last verified
- Feb 2022
- First submitted
- 26 Apr 2018
- Last updated
- 22 Feb 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Feb 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diabetes Mellitus Under the Age of One Year: Clinical Pattern, Etiological Factors and Possible Mutation in KCJN11 Gene Encoding of Adenosine Tri-phosphate Sensitive Potassium Channel Gene ( Kir6.2).
- ClinicalTrials.gov ID
- NCT03519217
- Acronym / sponsor ID
- INFANTILE DIABETES MELLITUS
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Shimaa KamalUniversity, hospital or other
- Study start
- 5 Jun 2020 (actual)
- Primary completion
- May 2022 (estimated)
- Study completion
- Dec 2022 (estimated)
- First posted
- 8 May 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.
Diabetes mellitus is a group of metabolic diseases characterized by chronic hyperglycemia resulting from defects in insulin secretion, insulin action, or both.
Detailed description
Infantile onset diabetes mellitus is not uncommon metabolic disorder in children, with rising in the incidence in the last few years. Infants with onset of diabetes mellitus at age less than one year are likely to have transient or permanent neonatal diabetes mellitus or rarely type one diabetes, all infants with onset of diabetes at less than one year of age need to undergo genetic evaluation for monogenic diabetes as is most commonly due to activating mutations in either of the genes encoding the two subunits of the adenosine tri-phosphate-sensitive potassium channel (potassium channel, inwardly rectifying subfamily J member 11 and adenosine tri-phosphate-binding cassette, sub-family C, member 8) as those patients will respond to therapy with sulphonylurea lead to good glycemic control and management of other comorbid factors. Evaluation with auto-immune antibodies may be warranted in infants with onset of diabetes in late infancy as the chances of type 1 diabetes presenting in late infancy has been reported in the literature.
Type 1 diabetes mellitus is one of the most common endocrine and metabolic conditions in childhood.
Data from large epidemiological studies worldwide indicate that on an annual basis, the overall increase in the incidence of type one diabetes is around three percent.
There is increase in incidence of type one diabetes mellitus throughout the world especially, marked in young children, Registries in Europe suggest that incidence of type one diabetes mellitus were highest in the youngest age-group (0-4 years).
The underlying pathophysiological mechanism of the disease is cellular-mediated autoimmune destruction of the pancreatic beta-cells.
The triggers for the autoimmune attack are not fully understood, but it is now widely accepted that both environmental and genetic factors contribute to it.
The strongest gene for type one diabetes mellitus, is located in the major histocompatibility complex Class II region on chromosome 6, at staining region 6p21.
Environmental factors can influence expression of type 1 diabetes and this can be suggested by the identical twins, when one twin has type 1 diabetes, the other twin only has it 30%-50% of the time.
It has been reported that only 10% of those who are genetically predisposed to type one diabetes actually develop the disease; however, that percentage appears to be changing and environmental factors may play an increasingly important role in determining risk.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Diabetic patients under the age of one year | – | –All cases which are diagnosed with diabetes mellitus under the age of one year will be subjected for blood glucose level, glycated haemoglobin, fasting C-peptide, anti-insulin and anti-islets auto-antibodies, and who have negative tests for anti-insulin and anti-islets auto-antibodies, will be subjected to do genetic study for KCJN11 and ABCC8 |
Who may qualify
- Ages
- 2 months to 1 year
- Sex
- All
- Age groups
- Child
- Study population
- Sixty diabetic patient diagnosed under the age of one year will be subjected for anti-insulin and anti-islets auto-antibodies who are negative for these test will be subjected to do genetic study.
Key inclusion criteria (5 listed)
- Diabetic patients with disease onset under the age of one year diagnosed according to American Diabetes Association criteria 2016 which include:
- Fasting plasma glucose level at or above 7.0 mmol/L (126 mg/dl).
- Plasma glucose at or above 11.1 mmol/L (200 mg/dl) two hours after a 1.75 gm/kg oral glucose load as in a glucose tolerance test.
- Symptoms of hyperglycemia and random plasma glucose at or above 11.1 mmol/L 200 mg/dl).
- Hemoglobin A1C at or above 48 mmol/mol.
Key exclusion criteria (2 listed)
- Diabetic children with the disease onset above the age of one year.
- Infants with transient hyperglycemia.
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
Evaluate possible risk factors among diabetic infants
Time frame: within six months
Questionnaire to evaluate possible risk factors among diabetic infants
1 secondary outcome
Detection of gene mutation responsible for infantile diabetes through gene sequencing
Time frame: within six months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Feb 2022.
- Individual participant dataSharing planned: No
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Gene Mutation in Infantile Onset Diabetes Mellitus, run by Shimaa Kamal at 1 site in Egypt.
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 5 inclusion and 2 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 22 Feb 2022. 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 Egypt. 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?
Evaluate possible risk factors among diabetic infants (time frame: within six months). 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 Feb 2022; AzTrials last refreshed its copy on 6 Nov 2026.