Genetic VariationNCT00339885
Mapping Genes for Type 2 (Non-Insulin Dependent) Diabetes Mellitus
An observational study of Genetic Variation and Diabetes, run by National Human Genome Research Institute (NHGRI) at 4 sites in 2 countries.
Trial summary
The aim of the project is to positionally clone susceptibility genes for NIDDM. Patients will be ascertained in Finland from previous health surveys and hospital discharge records. Approximately 400 affected sib pairs will be collected. Read more about this study
- Who is it for?
- Ages 1 month to 65 yearsHealthy volunteers can take part
- Conditions the study is for
- Genetic Variation, Diabetes
- How many people
- 32,379 participants
- Where
- 4 sitesin 2 countries
- Study dates
- 1 Jun 1996to 22 May 2020
- 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 65 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: A large majority of the sample population resides in various parts of Finland and are of Finnish descent. The Finnish population provides an ideal basis for studies of complex genetic diseases such as T2D due to its relative genetic and environmental homogeneity, excellent data sources, and a population strongly supportive of biomedical research. Individuals with or without diabetes (type2 or monogenic forms of diabetes) have been collected.
- No eligibility criteria listed.
Trial locations and contacts
4 sites in 2 countries.
4 sites in 2 countries
Finland2 sites
Natl Inst for Health & Welfare (THL)
Helsinki
Research Ethics Committee of Hospital District of Northern Savo
Kuopio
Norway2 sites
University of Tromso
Tromsø
Norwegian U of Science & Technology
Trondheim
About this study
The aim of the project is to positionally clone susceptibility genes for NIDDM. Patients will be ascertained in Finland from previous health surveys and hospital discharge records. Approximately 400 affected sib pairs will be collected. Families will be chosen who have, at most, one parent with NIDDM no history of IDDM. A clinical examination will be undertaken on family members and blood drawn for DNA isolation. Covariates such as body weight, blood pressure, lipid levels and urinary albumin will also be measured. The unaffected spouse and children of a subset of probands will be invited to undergo a frequently-sampled intravenous glucose tolerance test (FSIGT) to measure parameters of pancreatic function and peripheral insulin resistance (IR). A number of unrelated elderly non-diabetic subjects will also be identified to conduct a population-based association analysis.
The FSIGT analysis will be performed in Los Angeles. The DNA will be shipped to Bethesda where a total genomic scan will be performed using semi-automated fluorescence-based genotyping technology. Data from Bethesda, Los Angeles and Finland will be sent to Ann Arbor where parametric and non-parametric methods will be used to analyse both discrete traits such as NIDDM and intermediate traits like IR....
Read the detailed description
The Finland-United States investigation of NIDDM (FUSION) study is a long-term effort to
identify susceptibility genes for Type 2 diabetes (T2D) and associated quantitative traits. This
involves the phenotyping and DNA analysis of thousands of individuals living in Finland, utilizing a study design that was originally based on affected sib pairs. The majority of these samples have already been subjected to a genome scan using microsatellite markers and the original FUSION samples. Additionally, thousands of other northern European cases and controls have been subjected to genome-wide association (GWA) analysis and/or fine mapping as part of the FUSION study. More recently, the opportunity provided by the lowered sequencing costs have allowed targeted and/or whole genome sequencing of many of these individuals.
- Conditions
- Genetic Variation, Diabetes
- Keywords
- Monogenic Diabetes, Type 2 Diabetes Mellitus, QTL
- Medical subject headings
- Diabetes Mellitus, Diabetes Mellitus, Type 2
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 |
|---|---|---|
| AADM | Family and Population based individuals | |
| Action-LADA | Population based individuals | |
| D2D 2004 | Population based individuals | |
| DIAGEN (Dresden Biobank) | Population based individuals | |
| FINRISK 1987 | Population based individuals | |
| FINRISK 2002 | Population based individuals; Test DNA | |
| Fusion 1 | Affected-sib pair (ASP) families and elderly controls | |
| Fusion 2 | 275 Replication ASP Families; Trios | |
| Fusion 3 | Siblings of FUSION1 families; Spouses, Offspring of 291 FUSION 1 families; Spouses, Offspring of Elderly Controls; Other F1 relatives | |
| Fusion 4/5 | Spouses, Offspring of FUSION 1 and 2 Families | |
| FUSION Finnish Groups | Family and Population based (including METSIM and DR's EXTRA): Tissue samples | |
| Health-2000 | Population based individuals | |
| HUNT 2 | Population based individuals | |
| METSIM | Population based individuals | |
| Savitaipale | Population based individuals | |
| UEF - Laakso | Monogenic disease individuals and family members |
What is being measured
The primary outcome is the main question the study is designed to answer.
T2D status, quantitative traits measurements
Association testing
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jun 2006 (estimated)
- Study start1 Jun 1996
- Primary completion22 May 2020
- Study completion22 May 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic VariationStudies 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-control
- Time perspective
- Other
- Enrolment
- 32,379 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Lori Bonnycastle, Ph.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00339885
- Sponsor's protocol ID
- 999995030
- Other IDs
- OH95-HG-N030
- Status last verified
- May 2020
- First submitted
- 19 Jun 2006
- Last updated
- 27 May 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 27 May 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mapping Genes for Type 2 (Non-Insulin Dependent) Diabetes Mellitus
- ClinicalTrials.gov ID
- NCT00339885
- Acronym / sponsor ID
- 999995030
- Conditions
- Genetic Variation, Diabetes
- Keywords
- Monogenic Diabetes, Type 2 Diabetes Mellitus, QTL
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 32,379 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 1 Jun 1996 (actual)
- Primary completion
- 22 May 2020 (actual)
- Study completion
- 22 May 2020 (actual)
- First posted
- 21 Jun 2006 (estimated)
- 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 aim of the project is to positionally clone susceptibility genes for NIDDM. Patients will be ascertained in Finland from previous health surveys and hospital discharge records. Approximately 400 affected sib pairs will be collected. Families will be chosen who have, at most, one parent with NIDDM no history of IDDM. A clinical examination will be undertaken on family members and blood drawn for DNA isolation. Covariates such as body weight, blood pressure, lipid levels and urinary albumin will also be measured. The unaffected spouse and children of a subset of probands will be invited to undergo a frequently-sampled intravenous glucose tolerance test (FSIGT) to measure parameters of pancreatic function and peripheral insulin resistance (IR). A number of unrelated elderly non-diabetic subjects will also be identified to conduct a population-based association analysis.
The FSIGT analysis will be performed in Los Angeles. The DNA will be shipped to Bethesda where a total genomic scan will be performed using semi-automated fluorescence-based genotyping technology. Data from Bethesda, Los Angeles and Finland will be sent to Ann Arbor where parametric and non-parametric methods will be used to analyse both discrete traits such as NIDDM and intermediate traits like IR....
Detailed description
The Finland-United States investigation of NIDDM (FUSION) study is a long-term effort to
identify susceptibility genes for Type 2 diabetes (T2D) and associated quantitative traits. This
involves the phenotyping and DNA analysis of thousands of individuals living in Finland, utilizing a study design that was originally based on affected sib pairs. The majority of these samples have already been subjected to a genome scan using microsatellite markers and the original FUSION samples. Additionally, thousands of other northern European cases and controls have been subjected to genome-wide association (GWA) analysis and/or fine mapping as part of the FUSION study. More recently, the opportunity provided by the lowered sequencing costs have allowed targeted and/or whole genome sequencing of many of these individuals.
Study design
- Observational model
- Case-control
- Time perspective
- Other
- Number of arms
- 16
| Arm | Type | Receives |
|---|---|---|
| AADM | – | –Family and Population based individuals |
| Action-LADA | – | –Population based individuals |
| D2D 2004 | – | –Population based individuals |
| DIAGEN (Dresden Biobank) | – | –Population based individuals |
| FINRISK 1987 | – | –Population based individuals |
| FINRISK 2002 | – | –Population based individuals; Test DNA |
| Fusion 1 | – | –Affected-sib pair (ASP) families and elderly controls |
| Fusion 2 | – | –275 Replication ASP Families; Trios |
| Fusion 3 | – | –Siblings of FUSION1 families; Spouses, Offspring of 291 FUSION 1 families; Spouses, Offspring of Elderly Controls; Other F1 relatives |
| Fusion 4/5 | – | –Spouses, Offspring of FUSION 1 and 2 Families |
| FUSION Finnish Groups | – | –Family and Population based (including METSIM and DR's EXTRA): Tissue samples |
| Health-2000 | – | –Population based individuals |
| HUNT 2 | – | –Population based individuals |
| METSIM | – | –Population based individuals |
| Savitaipale | – | –Population based individuals |
| UEF - Laakso | – | –Monogenic disease individuals and family members |
Who may qualify
- Ages
- 1 month to 65 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- A large majority of the sample population resides in various parts of Finland and are of Finnish descent. The Finnish population provides an ideal basis for studies of complex genetic diseases such as T2D due to its relative genetic and environmental homogeneity, excellent data sources, and a population strongly supportive of biomedical research. Individuals with or without diabetes (type2 or monogenic forms of diabetes) have been collected.
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
T2D status, quantitative traits measurements
Time frame: ongoing
Association testing
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 May 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.
Lori Bonnycastle, Ph.D. principal investigator
National Human Genome Research Institute (NHGRI)
4 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Variation and Diabetes, run by National Human Genome Research Institute (NHGRI) at 4 sites in 2 countries.
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: finished, as of the sponsor's last update on 27 May 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in Finland, Norway. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
T2D status, quantitative traits measurements (time frame: ongoing). 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 27 May 2020.