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
