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TransCellular Therapeutics and the Barth Syndrome Foundation Announce Investment Partnership in Biologic Development for an Ultra-rare Disease 

Boston, July 12, 2022 – TransCellular Therapeutics (TCT), a biotech focused on the development of enzyme replacement therapy, and the Barth Syndrome Foundation (BSF) proudly announce an investment partnership to advance this targeted treatment for the 250+ individuals affected by Barth syndrome worldwide. 

Building upon research first conducted at the University of Washington, and now under development at Tufts Medical Center, the goal of TCT’s recombinant tafazzin enzyme replacement therapy is to deliver enzyme into the mitochondria of affected cells and tissues to ameliorate the symptoms associated with Barth syndrome. "This investment from BSF will enable TCT to continue to develop and advance its biologic therapy program with the aim of addressing the clinical challenges faced by Barth syndrome patients,” says Michael Chin, M.D., Ph.D., Research Director of the Hypertrophic Cardiomyopathy Center at Tufts Medical Center, Professor of Medicine at Tufts University School of Medicine and co-founder of TCT. 

Barth syndrome is an ultra-rare, X-linked, multi-organ and -system disorder characterized by cardiolipin deficiency, cardiomyopathy, musculoskeletal weakness, neutropenia, debilitating fatigue, growth delay, and hypoglycemia, along with clinical manifestations common in inborn errors of metabolism. The life-threatening disease most commonly affects males but has been reported in females and is associated with genetic mutations in the TAFAZZIN gene causing abnormal cardiolipin remodeling and impaired mitochondrial structure and function.   

With an incidence estimated to be 1 in 300,000 to 1 in 400,00 in the United States and affecting all ethnic groups, over 70% of Barth syndrome affected individuals present with cardiac complications, 17% are heart-transplant recipients, 69% further rely on immune modulation to manage neutropenia and infections, with constant and debilitating fatigue voiced as the greatest impact on quality of life.1 

“The unmet needs of our community are immense, with no approved drugs for a disorder that results in the loss of life all too often and all too young. For those fortunate enough to survive into adulthood, the medical burden spans multiple specialties, frequent hospitalizations, and is coupled with the daily challenges of coping with a complex, ultra-rare disease,” says Dr. Erik Lontok, Ph.D., Director of Research at BSF. “It is our aspiration that our support today for TCT will translate into a therapeutic opportunity for our community in the future.” 

Alongside the research currently funded by the National Heart Lung and Blood Institute’s Catalyze Program, this partnership is geared towards bringing this promising approach one step closer to clinical investigation. “I greatly appreciate the support from the BSF, which we see as a valuable collaborator in the development of new therapeutic alternatives to address the unmet needs of this genetic disorder,” added Dr. Chin. 

1 Voice of the Patient: Barth Syndrome. A report on the Externally-Led Patient-Focused Drug Development Meeting, March 2019. 

About Barth Syndrome Foundation (BSF) 

Barth Syndrome Foundation and our international affiliates comprise the only global network of families, healthcare providers, and researchers focused on our mission to save lives through education, advances in treatment and finding a cure for Barth syndrome. Considered a role model in rare disease advocacy, BSF has funded nearly $6.1M USD to over 52 global institutions and catalyzed over $32M USD in funding from other agencies to advance global scientific discoveries to end the suffering and loss of life from Barth syndrome. BSF supports and facilitates access to various research tools and models as well as stimulates research collaborations. Additionally, BSF provides a lifeline to families and individuals living with Barth syndrome around the world by offering support, educational conferences, a patient registry and collaborations with specialist healthcare providers to advance rapid and proper diagnosis, standards of care, and treatments. 

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About TransCellular Therapeutics (TCT) 

TransCellular Therapeutics Inc. is developing recombinant tafazzin enzyme replacement therapy (rTERT) as a potential treatment for Barth syndrome.  Boston based, TCT has an exclusive worldwide right for the rTERT program from the University of Washington.  TCT works together with leading Barth syndrome researchers across the country in the development of new clinical management tools for patients with this disease.   

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