Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells

NCT02815072 | Unknown

• 1 other identifier: 2013/596/C
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Marfan's Syndrome

Keywords

Fontan palliation; Marfan's syndrome

Outcome Measures

Primary Outcomes (1)

• Generation of Marfan Syndrome and Fontan Cardiovascular Models using Patient-specific Induced Pluripotent Stem Cells

  1 year

Interventions

Skin biopsy OTHER

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.

Eligibility Criteria

• Age: 21 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• Patient that are under the care of the cardiologist and diagnosed with Marfan's syndrome or who had underwent Fontan palliation

Sponsors & Collaborators

• National Heart Centre Singapore: lead

Study Sites (1)

National Heart Centre Singapore

Singapore, Singapore, 169609, Singapore

RECRUITING

Related Publications (2)

• 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.

  PMID: 18579813 BACKGROUND

• Jin 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.

  PMID: 17175041 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

2 tablespoons of blood (20ml) will be taken for pre screening

MeSH Terms

Conditions

Marfan Syndrome

Condition Hierarchy (Ancestors)

Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Officials

• Ju Le Tan, MBBS

  National Heart Centre Singapore

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ju Le Tan, MBBS

CONTACT

tan.ju.le@singhealth.com.sg

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 31, 2016
• First Posted: June 28, 2016
• Study Start: October 1, 2013
• Primary Completion: May 1, 2017
• Study Completion: May 1, 2017
• Last Updated: June 28, 2016

Record last verified: 2016-01

Data Sharing

• IPD Sharing: Will not share

Locations

SG (1)