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Research

Orphanet Journal of Rare Diseases

Barth syndrome is an inborn error of phospholipid metabolism affecting males. Clinicians and parents from the NHS Barth Syndrome Service, the Barth Syndrome Clinic at the Kennedy Krieger Institute, Johns Hopkins Hospital, Baltimore, the Barth Syndrome Trust (UK) and the Barth Syndrome Foundation (USA) have put together a comprehensive review on Barth syndrome which is available as a free download from the Orphanet Journal of Rare Diseases. This can be accessed here

Barth Syndrome annual conference 2020 

Due to the COVID-19 pandemic, the Barth Syndrome annual conference 2020 went virtual. There were many presentations on a variety of topics including cardiomyopathy in adolescents and adults with Barth syndrome, neutropenia in Barth syndrome: endoplasmic reticulum stress and an increased sensitivity to apoptosis and defective mitochondrial calcium uptake underlies arrhythmias in Barth syndrome. Information on the speakers abstracts and videos of the presentations can be found online: https://www.barthsyndrome.org/research/2020-bsf-science-and-medicine-symposium/

Cardioman: Treatment of Barth Syndrome by CARDIOlipin MANipulation (CARDIOMAN): A randomised placebo controlled pilot trial conducted by the nationally commissioned Barth Syndrome Service

Scientific research has shown that several treatments can improve the fat abnormalities in cells affected by Barth syndrome from either mice or humans; one of which is a drug called bezafibrate. Bezafibrate is particularly attractive as it has been safely administered for over 20 years in the UK to both adults and children for the treatment of high blood fats. The purpose of this study is to see if bezafibrate can be given safely and effectively to boys and men with Barth syndrome in a blinded randomised trial.

Bezafibrate or an inactive (placebo) treatment will be given to patients for 4 months, followed by a one month break, and then followed by 4 months of the alternate treatment (e.g. if bezafibrate is given for the first 4 months, a placebo will be given for the second 4 months) . Half of the participants will take bezafibrate first, the other half will take placebo first. Participants and research staff will not know which order the treatments are given in (double-blind trial).

Tests will be performed when patients enrol onto the study and at the end of each 4 month treatment period. The tests will investigate the effects bezafibrate has on blood cells, exercise capacity, heart function and quality of life. The laboratory work performed at Bristol University and Great Ormond St Hospital will test the effect of bezafibrate on participant's cells and mitochondria (which have been shown to be abnormal in Barth syndrome). This is to see whether we can predict any improvement in symptoms in order to tell us which patients would benefit from this treatment in future. Laboratory work will also be carried out on participant's cells using another drug called resveratrol, which has also shown promise in laboratory tests, to see if this could provide an alternative treatment.

They wish to study up to 18 boys and young men with Barth syndrome in the UK, aged 6 years or over. In order to minimise travel to Bristol for participants, they will use local GPs and hospitals to perform monthly blood tests. Safety will be monitored by an independent Data Monitoring and Safety Committee.

Results from this study will be shared with American and European colleagues so that this work will have worldwide benefit.

The study is now closed to recruitment.

More information can be found on: Barth Syndrome Research : CARDIOMAN Clinical Trial Results Update

Genetic analysis of the G4 .5 gene in families with suspected Barth Syndrome

The following paper describes under-diagnosis of Barth syndrome and the development of genetic testing in Bristol: http://www.ncbi.nlm.nih.gov/pubmed/10484795

Non-Epstein-Barr virus associated T-cell lymphoma following cardiac transplantation for Barth Syndrome 

This research reports disease evolution in one of the first affected boys to undergo successful cardiac transplantation: Ronghe MD, Foot AB, Martin R, Ashworth M, Steward CG. Acta Paediatrica 2001 May;90(5):584-6.

Reports about a boy with Barth Syndrome who underwent successful heart transplantation:

These links, from UK broadcasters and the national press from April 2012, tell the heart-warming story of a boy with Barth Syndrome who received a successful cardiac transplant following a record 251 days on artificial support with a "Berlin ventricular assist device". Approximately 15% of patients with the disease worldwide have required cardiac transplantation and there are many long-term survivors.

http://www.itv.com/news/2012-04-10/toddlers-record-time-with-artificial-heart/

http://www.itn.co.uk/home/42936/Little+Joe27s+heart+transplant

http://www.bbc.co.uk/news/health-17663497

http://www.telegraph.co.uk/health/healthnews/9195667/Three-year-old-survives-251-days-with-artificial-heart.html

http://www.dailymail.co.uk/health/article-2127761/Boy-3-fighting-fit-kept-alive-record-251-days-artificial-heart.html

http://www.mirror.co.uk/news/uk-news/toddler-kept-alive-for-251-days-786531