2018 Scientific and Medical Conference about Barth Syndrome - Project Summary/Abstract
Barth syndrome (BTHS; OMIM #302060) is a rare, life-threatening, X-linked, multi-system genetic
disorder affecting primarily males [1-6]. The cardinal characteristics of this unique mitochondrial disease are
dilated cardiomyopathy (sometimes hypertrophic cardiomyopathy), muscle hypoplasia, extreme fatigue/weak-
ness, neutropenia, growth delay, and a reduction of tetralinoleoyl cardiolipin (a major phospholipid of the
mitochondrial inner membrane). In the first description of Barth syndrome in 1983, Dr. Barth delineated all of
the principal clinical findings, established the X-linked mode of inheritance, and described the abnormalities of
mitochondrial structure and function in muscle and leukocytes. In 1996 causative mutations for BTHS were
found in the gene subsequently designated tafazzin or TAZ, located in the gene-rich Xq28 chromosomal region
[7]. In 2000 Dr. Peter Vreken and colleagues discovered that fibroblasts from BTHS patients have essentially
absent levels of mitochondrial tetralinoleoyl cardiolipin [8]. Fortunately, this discovery also coincided with the
incorporation of the Barth Syndrome Foundation (BSF) as a non-profit, patient-advocacy group
Since its inception BSF has sponsored biennial International Scientific, Medical and Family Confer-
ences (hereafter referred to as Conferences) to highlight scientific and clinical advances, to educate patients
and their families, to help deal with patient concerns, to promote the advancement of BTHS research and
researchers, and to establish a vibrant patient-centered community. These unique Conferences have evolved
from simple gatherings of a few families who have sons suffering from this rare disease along with their
treating physicians, to International Conferences where important scientific and clinical advancements are
presented and new investigators to the field are recruited, encouraged, and supported. The search for
therapeutic treatments or compounds is always a major focus of these Conferences, though it is only recently
that clinical therapies have been able to be discussed in any detail. At the 2018 Conference we will hear
reports from the first pharmaceutical BTHS clinical trials—the TAZPOWER trial in the US and the
CARDIOMAN trial in the UK. Preclinical data regarding an anticipated gene therapy trial will also be presented.
Up to now only palliative care is available to BTHS individuals, but through BSF and these biennial
Conferences real “bench to bedside” stories are being told. These Conferences are the only forums where
therapies and therapeutic ideas can be effectively presented, discussed, critically evaluated, and acted upon,
not only by the researchers and physicians directly involved, but also by the affected individuals and their
families. These Conferences add value to science and medicine and provide real hope to BTHS individuals.
