Systemic SclerosisRegistryNCT00074568
Scleroderma Registry
An observational study of Systemic Sclerosis and Scleroderma, run by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at 1 site in United States.
Trial summary
Scleroderma is likely caused by a combination of factors, including an external trigger (infection or other exposure) and a genetic predisposition. The Scleroderma Registry will conduct genetic analyses for disease-related genes in patients with scleroderma and their family members (parents, brothers, and sisters). Read more about this study
- Who is it for?
- Ages 18 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Systemic Sclerosis, Scleroderma
- How many people
- 5,000 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2000to 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 18 to 70 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Patients diagnosed with Systemic Sclerosis or family member of patients with systemic sclerosis or Healthy volunteer with no autoimmune disease and without a first degree relative with a systemic autoimmune disease.
Who may be able to join
- Diagnosis of systemic sclerosis or family members of patients with systemic sclerosis
- Or
- Healthy volunteer with no autoimmune disease and without a first-degree relative with a systemic autoimmune disease
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Texas - Houston Medical School
Houston, Texas, 77030
About this study
Official title: Scleroderma Family Registry and DNA Repository
Scleroderma is likely caused by a combination of factors, including an external trigger (infection or other exposure) and a genetic predisposition. The Scleroderma Registry will conduct genetic analyses for disease-related genes in patients with scleroderma and their family members (parents, brothers, and sisters).
Read the detailed description
Scleroderma refers to a group of diseases that involve the abnormal growth of connective tissue, which supports the skin and internal organs. Scleroderma can affect the skin, making it hard and tight; it can also damage the blood vessels and internal organs such as the heart, lungs, and kidneys. Estimates for the number of people in the United States with the systemic (body-wide) form of scleroderma range from 40,000 to 165,000. The number of people with all scleroderma-related disorders is between 250,000 and 992,500.
Researchers believe that several factors interact to produce scleroderma, including abnormal immune activity, potential environmental triggers, and genetic makeup. Scleroderma is not passed on from parents to child, but certain genes may make a person more likely to develop the disease. The goals of this project are to identify the genes that influence disease susceptibility and expression in systemic scleroderma and to establish a repository of DNA, plasma, and serum samples from single case scleroderma families, multicase families, and healthy unrelated volunteers for the use of researchers interested in studying this disease.
Participants in the Registry will have a phone interview regarding disease characteristics and family history. Participants will be sent a blood kit to get a blood sample drawn locally for shipment to the Registry lab. Blood samples will be made available (anonymously) for studies by researchers around the country. In some cases, participants will be asked to sign a release of medical information so that medical records can be obtained to verify the diagnosis.
As of May 2009, this study is no longer enrolling family members.
- Conditions
- Systemic Sclerosis, Scleroderma
- Keywords
- Genetic Study, Transmission Dysequilibrium Testing, Genome Wide Scan, Family Study
- Medical subject headings
- Scleroderma, Systemic, Scleroderma, Diffuse
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 |
|---|---|---|
| 1 | Patients with scleroderma and their family members (parents, brothers, and sisters) | |
| 2 | Healthy volunteers with no autoimmune disease and without a first-degree relative with a systemic autoimmune disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
Establish National registry of Scleroderma as resource for scleroderma scientific community
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Dec 2003 (estimated)
- Study startSep 2000
- Primary completionJan 2022
- Study completionJan 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Systemic SclerosisStudies 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
- Prospective
- Enrolment
- 5,000 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Sponsor type
- US National Institutes of Health
- Collaborators
- The University of Texas Health Science Center, Houston
- Responsible party
- Sponsor
- Investigators
- Maureen D. Mayes, MD, MPH, Principal investigator, The University of Texas Health Science Center, Houston
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00074568
- Sponsor's protocol ID
- NIAMS-108
- Other IDs
- N01AR002251-000, NO1-AR-0-2251
- Acronym
- Registry
- Status last verified
- Sep 2022
- First submitted
- 16 Dec 2003
- Last updated
- 27 Sep 2022
- Results posted
- No
- Data monitoring committee
- No
Publications
Mayes MD, Giannini EH, Pachman LM, Buyon JP, Fleckman P. Connective tissue disease registries. Arthritis Rheum. 1997 Sep;40(9):1556-9. doi: 10.1002/art.1780400903. No abstract available.
PubMed 9324008Mayes MD. The establishment and utility of a population-based registry to understand the epidemiology of systemic sclerosis. Curr Rheumatol Rep. 2000 Dec;2(6):512-6. doi: 10.1007/s11926-000-0029-3.
PubMed 11123106Mayes MD. Scleroderma epidemiology. Rheum Dis Clin North Am. 2003 May;29(2):239-54. doi: 10.1016/s0889-857x(03)00022-x.
PubMed 12841293
Study at a glance
From the registry record, last updated by the sponsor on 27 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Scleroderma Family Registry and DNA Repository
- ClinicalTrials.gov ID
- NCT00074568
- Acronym / sponsor ID
- Registry / NIAMS-108
- Conditions
- Systemic Sclerosis, Scleroderma
- Keywords
- Genetic Study, Transmission Dysequilibrium Testing, Genome Wide Scan, Family Study
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 5,000 participants (actual)
- Lead sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)US National Institutes of Health
- Collaborators
- The University of Texas Health Science Center, Houston
- Study start
- Sep 2000
- Primary completion
- Jan 2022 (actual)
- Study completion
- Jan 2022 (actual)
- First posted
- 17 Dec 2003 (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.
Scleroderma is likely caused by a combination of factors, including an external trigger (infection or other exposure) and a genetic predisposition. The Scleroderma Registry will conduct genetic analyses for disease-related genes in patients with scleroderma and their family members (parents, brothers, and sisters).
Detailed description
Scleroderma refers to a group of diseases that involve the abnormal growth of connective tissue, which supports the skin and internal organs. Scleroderma can affect the skin, making it hard and tight; it can also damage the blood vessels and internal organs such as the heart, lungs, and kidneys. Estimates for the number of people in the United States with the systemic (body-wide) form of scleroderma range from 40,000 to 165,000. The number of people with all scleroderma-related disorders is between 250,000 and 992,500.
Researchers believe that several factors interact to produce scleroderma, including abnormal immune activity, potential environmental triggers, and genetic makeup. Scleroderma is not passed on from parents to child, but certain genes may make a person more likely to develop the disease. The goals of this project are to identify the genes that influence disease susceptibility and expression in systemic scleroderma and to establish a repository of DNA, plasma, and serum samples from single case scleroderma families, multicase families, and healthy unrelated volunteers for the use of researchers interested in studying this disease.
Participants in the Registry will have a phone interview regarding disease characteristics and family history. Participants will be sent a blood kit to get a blood sample drawn locally for shipment to the Registry lab. Blood samples will be made available (anonymously) for studies by researchers around the country. In some cases, participants will be asked to sign a release of medical information so that medical records can be obtained to verify the diagnosis.
As of May 2009, this study is no longer enrolling family members.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Patients with scleroderma and their family members (parents, brothers, and sisters) |
| 2 | – | –Healthy volunteers with no autoimmune disease and without a first-degree relative with a systemic autoimmune disease |
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Patients diagnosed with Systemic Sclerosis or family member of patients with systemic sclerosis or Healthy volunteer with no autoimmune disease and without a first degree relative with a systemic autoimmune disease.
Key inclusion criteria (3 listed)
- Diagnosis of systemic sclerosis or family members of patients with systemic sclerosis
- Or
- Healthy volunteer with no autoimmune disease and without a first-degree relative with a systemic autoimmune disease
Key exclusion criteria (0 listed)
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
Establish National registry of Scleroderma as resource for scleroderma scientific community
Time frame: ongoing
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 Sep 2022.
- Background: PubMed 9324008Mayes MD, Giannini EH, Pachman LM, Buyon JP, Fleckman P. Connective tissue disease registries. Arthritis Rheum. 1997 Sep;40(9):1556-9. doi: 10.1002/art.1780400903. No abstract available.
- Background: PubMed 11123106Mayes MD. The establishment and utility of a population-based registry to understand the epidemiology of systemic sclerosis. Curr Rheumatol Rep. 2000 Dec;2(6):512-6. doi: 10.1007/s11926-000-0029-3.
- Background: PubMed 12841293Mayes MD. Scleroderma epidemiology. Rheum Dis Clin North Am. 2003 May;29(2):239-54. doi: 10.1016/s0889-857x(03)00022-x.
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Scleroderma
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.
Maureen D. Mayes, MD, MPH principal investigator
The University of Texas Health Science Center, Houston
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 Systemic Sclerosis and Scleroderma, run by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at 1 site in United States.
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 0 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: finished, as of the sponsor's last update on 27 Sep 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 United States. 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?
Establish National registry of Scleroderma as resource for scleroderma scientific community (time frame: ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00074568, which also lists 3 linked publications.
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 Sep 2022.