RARE Daily

Scenic and Barth Foundation Partner to Support Tailored Treatments for Barth Syndrome

March 30, 2022

Rare Daily Staff

Scenic Biotech, which is focused on the discovery of genetic modifiers to enable the development of disease modifying therapeutics for rare genetic disorders and other devastating illnesses, and the Barth Syndrome Foundation have entered into a partnership to support the advancement of Scenic’s in-house drug discovery program to find novel tailored treatments for Barth syndrome, a devastating multi-system disorder that leads to complex clinical manifestations and significantly reduced life expectancy.

Leveraging its Cell-Seq discovery platform, Scenic has generated a pipeline of disease modifying therapeutics including three metabolic programs. These aim to identify small molecule drugs to treat Niemann Pick Type C (NP-C), a rare lipid storage disorder that affects lipid metabolism, a second undisclosed program to treat a severe heritable metabolic syndrome, and the Barth syndrome program.

Barth syndrome is a rare, X-linked, inborn error of metabolism characterized by cardiolipin deficiency, cardiomyopathy, musculoskeletal weakness, neutropenia, debilitating fatigue, growth delay, and hypoglycemia, among other clinical manifestations. The disease most commonly affects males but has been reported in females and is associated with a genetic mutation in the TAFAZZIN gene causing abnormal cardiolipin remodeling and impaired mitochondrial structure. 

With an incidence estimated to be 1 in 300,000 to 1 in 400,000 in the United States and affecting all ethnic groups, more than 70 percent of Barth syndrome affected individuals present with cardiac complications, 17 percent are heart-transplant recipients, 69 percent further rely on immune modulation to manage neutropenia and infections, and most report constant and debilitating fatigue.

“Barth syndrome is a multi-faceted and life-threatening disease with no specific treatment, thus presenting immense unmet medical need in terms of healthcare management and access to therapies,” says Erik Lontok, director of research for the Barth Syndrome Foundation. “In funding research and supporting stakeholders across the R&D spectrum, BSF remains an engaged partner in preclinical efforts and studies needed to understand the potentially outsized impact of genetic modifiers for Barth syndrome.”

In line with Scenic’s focus on identifying genetic modifiers, also known as disease suppressors, these novel therapeutics work by suppressing or completely blocking the effect of a disease-causing mutated gene. This approach should result in the amelioration of symptoms across the complex clinical spectrum of Barth syndrome.

“Our approach to Barth syndrome aims to identify disease modifying treatments and is highly specific to the etiology of disease, with the goal of positively impacting the broad range of symptoms that affect individuals.” says Sebastian Nijman, co-founder and chief scientific officer of Scenic Biotech.

Although the program now is in the preclinical stage, Scenic and BSF are confident in the potential of genetic modifiers to one day play an important therapeutic role in Barth syndrome. In working together, both teams will seek to leverage the Foundation’s precompetitive assets such as its TAFAZZIN Human Variants Database and patient-inputted registry, while facilitating access to the established research models, biosamples, and the wealth of multi-disciplinary expertise within the Barth syndrome space.

Photo: Sebastian Nijman, co-founder and chief scientific officer of Scenic Biotech

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