Marfan's SyndromeNCT02815072
Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells
An observational study of Marfan's Syndrome, run by National Heart Centre Singapore at 1 site in Singapore.
Trial summary
Medical researchers of National Heart Centre Singapore will carry out a state-of-the-art study that examines the possibility of changing patients' own cells into multi-functional and potent stem cells called iPS cells. Read more about this study
- Who is it for?
- Ages 21 to 60 years
- Conditions the study is for
- Marfan's Syndrome
- What is being tested?
- Skin biopsy
- How many people
- 30 participants
- Where
- 1 siteSingapore
- Study dates
- Oct 2013to May 2017
- 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 21 to 60 years
- All sexes
- No healthy volunteers
- Adult
Study population: Participants who have been diagnosed with Marfan's syndrome whereby a gene mutation is suspected to have affected major blood vessel of their heart or have a Fontan procedure that was carried out to re-direct blood flow in their heart.
Who may be able to join
- Patient that are under the care of the cardiologist and diagnosed with Marfan's syndrome or who had underwent Fontan palliation
Who cannot join
- No
Trial locations and contacts
1 site in 1 country.
Ju Le Tan, MBBS contact
Singapore1 site, 1 recruiting
- Recruiting
National Heart Centre Singapore
Singapore, Singapore, 169609
About this study
Medical researchers of National Heart Centre Singapore will carry out a state-of-the-art study that examines the possibility of changing patients' own cells into multi-functional and potent stem cells called iPS cells. These iPS cells can subsequently give rise to functional cardiac cells (myocytes) and other cardiovascular cells which might give further clues into the manifestation of the structural heart disease. This study involves blood sample collection for pre-screening and skin biopsies to establish skin cell culture.
Read the detailed description
Participants are invited to participate in this study because they have been diagnosed with Marfan's syndrome whereby a gene mutation is suspected to have affected major blood vessel of their heart or have a Fontan procedure that was carried out to re-direct blood flow in their heart. This study will recruit 30 subjects from National Heart Centre Singapore over a period of 1 year.
For clinically diagnosed Marfan disease, a genetic test in a gene called FBN1 will be carried out to confirm the presence of gene mutation that is suspected to cause the disease. It is important for them to know that any research finding that indicates the presence of this gene mutation may only suggest a pre-disposition to Marfan disease, but it does not definitely ascertain that gene has caused the disease or predict that they will develop the disease. Further independent clinical genetic testing may be made available, should they so desire after consulting their doctor or genetic counsellor.
The skin obtained during the course of this study will be used for this study only and will be stored and analysed for the purposes of this study only, for a period not exceeding 5 years for research studies and experimental transplant studies, and will be destroyed after completion of the study, unless they agree to donate the samples to National Heart Centre Singapore for continuous storage for future studies that are approved by Institutional review board. The blood will however be stored indefinitely in National Heart Centre for future research on molecular, imaging and outcome studies of cardiovascular health and disease.
- Conditions
- Marfan's Syndrome
- Being tested
- Skin biopsy
- Keywords
- Fontan palliation, Marfan's syndrome
- Medical subject headings
- Marfan Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin biopsyOther
A sample of skin (approximately 0.5cm x 0.5cm) from inner thigh area. The skin biopsy will be conducted and completed with a single stitch to close the wound under local anaesthesia to minimise any discomfort. The skin biopsy will be taken by the medical doctor trained in biopsy collection. The tissue sample will be processed and cells will be grown out of them under appropriate conditions. These cells will only be used for laboratory experiments that include experimental transplantation models and laboratory bench-top research.
What is being measured
The primary outcome is the main question the study is designed to answer.
Generation of Marfan Syndrome and Fontan Cardiovascular Models using Patient-specific Induced Pluripotent Stem Cells
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jun 2016 (estimated)
- Study startOct 2013
- Primary completionMay 2017 (estimated)
- Study completionMay 2017 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Marfan's SyndromeStudies 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
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Heart Centre Singapore
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Ju Le Tan, MBBS, Principal investigator, National Heart Centre Singapore
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02815072
- Sponsor's protocol ID
- 2013/596/C
- Status last verified
- Jan 2016
- First submitted
- 31 May 2016
- Last updated
- 28 Jun 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC 3rd. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med. 2008 Jun 26;358(26):2787-95. doi: 10.1056/NEJMoa0706585.
PubMed 18579813Jin SM, Noh CI, Bae EJ, Choi JY, Yun YS. Impaired vascular function in patients with Fontan circulation. Int J Cardiol. 2007 Aug 21;120(2):221-6. doi: 10.1016/j.ijcard.2006.09.020. Epub 2006 Dec 18.
PubMed 17175041
Study at a glance
From the registry record, last updated by the sponsor on 28 Jun 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells
- ClinicalTrials.gov ID
- NCT02815072
- Acronym / sponsor ID
- 2013/596/C
- Conditions
- Marfan's Syndrome
- Keywords
- Fontan palliation, Marfan's syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- National Heart Centre SingaporeUniversity, hospital or other
- Study start
- Oct 2013
- Primary completion
- May 2017 (estimated)
- Study completion
- May 2017 (estimated)
- First posted
- 28 Jun 2016 (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.
Medical researchers of National Heart Centre Singapore will carry out a state-of-the-art study that examines the possibility of changing patients' own cells into multi-functional and potent stem cells called iPS cells. These iPS cells can subsequently give rise to functional cardiac cells (myocytes) and other cardiovascular cells which might give further clues into the manifestation of the structural heart disease. This study involves blood sample collection for pre-screening and skin biopsies to establish skin cell culture.
Detailed description
Participants are invited to participate in this study because they have been diagnosed with Marfan's syndrome whereby a gene mutation is suspected to have affected major blood vessel of their heart or have a Fontan procedure that was carried out to re-direct blood flow in their heart. This study will recruit 30 subjects from National Heart Centre Singapore over a period of 1 year.
For clinically diagnosed Marfan disease, a genetic test in a gene called FBN1 will be carried out to confirm the presence of gene mutation that is suspected to cause the disease. It is important for them to know that any research finding that indicates the presence of this gene mutation may only suggest a pre-disposition to Marfan disease, but it does not definitely ascertain that gene has caused the disease or predict that they will develop the disease. Further independent clinical genetic testing may be made available, should they so desire after consulting their doctor or genetic counsellor.
The skin obtained during the course of this study will be used for this study only and will be stored and analysed for the purposes of this study only, for a period not exceeding 5 years for research studies and experimental transplant studies, and will be destroyed after completion of the study, unless they agree to donate the samples to National Heart Centre Singapore for continuous storage for future studies that are approved by Institutional review board. The blood will however be stored indefinitely in National Heart Centre for future research on molecular, imaging and outcome studies of cardiovascular health and disease.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 21 to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- Study population
- Participants who have been diagnosed with Marfan's syndrome whereby a gene mutation is suspected to have affected major blood vessel of their heart or have a Fontan procedure that was carried out to re-direct blood flow in their heart.
Key inclusion criteria (1 listed)
- Patient that are under the care of the cardiologist and diagnosed with Marfan's syndrome or who had underwent Fontan palliation
Key exclusion criteria (1 listed)
- No
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 |
|---|---|---|
| Skin biopsyA sample of skin (approximately 0.5cm x 0.5cm) from inner thigh area. The skin biopsy will be conducted and completed with a single stitch to close the wound under local anaesthesia to minimise any discomfort. The skin biopsy will be taken by the medical doctor trained in biopsy collection. The tissue sample will be processed and cells will be grown out of them under appropriate conditions. These cells will only be used for laboratory experiments that include experimental transplantation models and laboratory bench-top research. | Other | – |
Primary outcome
Generation of Marfan Syndrome and Fontan Cardiovascular Models using Patient-specific Induced Pluripotent Stem Cells
Time frame: 1 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jun 2016.
- Background: PubMed 18579813Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC 3rd. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med. 2008 Jun 26;358(26):2787-95. doi: 10.1056/NEJMoa0706585.
- Background: PubMed 17175041Jin SM, Noh CI, Bae EJ, Choi JY, Yun YS. Impaired vascular function in patients with Fontan circulation. Int J Cardiol. 2007 Aug 21;120(2):221-6. doi: 10.1016/j.ijcard.2006.09.020. Epub 2006 Dec 18.
- Individual participant dataSharing planned: No
Related trials for Marfan's Syndrome
RecruitingObservational study
Asprosin and miRNA Expression in Young Women With Metabolic Syndrome
Metabolic Syndrome, Insulin Resistance
Enrolling by invitationObservational study
Advanced Ultrasound Signal Processing of Suspicious Breast Images
Breast Cancer, Breast Cyst
RecruitingObservational study
Pregnancy in Women With Rare Multisystemic Vascular Diseases: COGRare5 Study
Vascular Anomaly, Osler Rendu Disease
Not yet recruitingObservational study
Serum Asprosin, Metabolic Syndrome, and Cardiometabolic Risk in Rheumatoid Arthritis
Rheumatoid Arthritis, Metabolic Syndrome
RecruitingObservational study
ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria
Creation of an Italian Network of Biobanks of Rare Diseases
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.
Ju Le Tan, MBBS contact
Ju Le Tan, MBBS principal investigator
National Heart Centre Singapore
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 Marfan's Syndrome, run by National Heart Centre Singapore at 1 site in Singapore.
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 28 Jun 2016. 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 Singapore. 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?
Contact Ju Le Tan, MBBS (tan.ju.le@singhealth.com.sg), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Generation of Marfan Syndrome and Fontan Cardiovascular Models using Patient-specific Induced Pluripotent Stem Cells (time frame: 1 year). 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 NCT02815072, which also lists 2 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 28 Jun 2016.