Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart Muscle (CLUE)

University of Dundee

Status: Completed

Conditions: Eletrophysiology of iPS-derived Cardiomyocytes

Study type: Observational

Funder types: Other

Identifiers

NCT01865981

2012CA04

T13/21 (Other Grant/Funding Number)

Details and patient eligibility

About

Hereditary cardiac arrhythmias (genetically caused disturbances of heart rhythm) are life threatening conditions affecting otherwise healthy young individuals. Due to the inaccessibility of heart tissue, the abnormal electrical current(s) in the heart cells causing the rhythm disturbance can be difficult to study in detail and therefore in many cases remain untreatable. The investigators propose to study heart cell electrical function from such patients by reprogramming skin cells to become stem cells and then differentiating them to heart muscle cells.

The hypothesis of the study is that the differentiated cardiac cells will display electrical abnormalities dependent on the mutation causing the disease. These abnormalities can therefore provide a clue as to the nature of the mutation causing the disease or information about its effective management

Enrollment: 2 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Clinical features of Brugada Syndrome (ECG findings)
• mutation positive or mutation negative
• Idiopathic ventricular fibrillation

Exclusion criteria

• not able to give informed consent
• Age less than 18 years
• clinical diagnosis ambiguous

Trial design

2 participants in 2 patient groups

Hereditary VF

Description:

Patients with hereditary ventricular fibrillation, negative for known mutations

Brugada

Description:

Patients suffering from Brugada syndrome