Barth Syndrome Foundation Appoints New Director of Research, Erik Lontok PhD

Barth Syndrome Foundation (BSF) announces the appointment of Erik Lontok, PhD, as the Foundation’s Director of Research. Lontok brings rare disease research and patient experience to the organization after serving as the Chief Science Officer of the Lipedema Foundation. Lontok’s appointment comes as part of BSF’s strategic focus to translate research advancements into potential therapies for people with Barth syndrome.

This week, Barth Syndrome Foundation (BSF) announced the appointment of Erik Lontok, PhD, as the Foundation’s new Director of Research. Lontok will succeed BSF’s prior Director of Science, Matthew Toth, PhD, in a new role that has been established in order to leverage the past two decades of research partnerships and achievements toward the development of viable therapies for people with Barth syndrome. Trained as a biochemist at the University of California, San Francisco, Lontok joins BSF after serving as the Chief Science Officer of the Lipedema Foundation.

Lontok brings direct experience in the area of advancing scientific and medical research in support of patients and rare disease therapies. Through appointments at FasterCures, the Center for Strategic Philanthropy, and the Forum for Collaborative Research, Lontok has led and managed efforts to accelerate the pace of scientific discovery in lipedema, inflammatory bowel disease (IBD), chronic myelomonocytic leukemia, as well as advanced regulatory science for hepatitis C virus (HCV) and human immunodeficiency virus-1 (HIV) infections. Alongside the BSF Science and Medical Advisory Board, Lontok will be responsible for guiding the Foundation’s scientific strategy, overseeing the peer-reviewed grant-making program, advancing the Barth Syndrome Registry, and driving the collaborations needed to develop treatments for individuals affected by Barth syndrome.

In June 2019, BSF conducted a research portfolio review meeting to evaluate potential therapeutic areas nearing clinical development for Barth syndrome, notably gene therapy and enzyme replacement therapy. BSF’s 18-year research grant program has resulted in significant scientific and clinical advances in Barth syndrome, including the establishment of a patient registry and the tafazzin knockdown and knockout mouse models. Additionally, BSF’s programming has facilitated two clinical trials within the last two years, namely elamipretide (TAZPOWER) and bezafibrate (CARDIOMAN) in the US and UK, respectively. “Until there is a cure for Barth syndrome, BSF will continue to catalyze innovation through discovery science. The narrowing knowledge gap between basic science and therapeutic applications in Barth syndrome has fortuitously been paralleled by a market incentivized to advance therapies for orphan indications. Adopting a translational approach is the next logical step to deliver on our mission to accelerate effective treatments to people affected by Barth syndrome,” says Emily Milligan, MPH, BSF’s Executive Director. “Dr. Lontok’s drive and experience will be fundamental to BSF’s success during this strategic transition.”

Lontok is eager to expand BSF’s research impact by fostering strategic collaborations with partners across the research and development spectrum while maintaining the Foundation’s impressive network of scientific leaders in Barth syndrome. “From funding projects to on-site research during the International Scientific, Medical, and Family Conference, BSF has been instrumental in poising the research and patient community for translational and clinical science,” states Lontok. “Central to the success of BSF is the sense of community and partnership demonstrated by patients, families, clinicians, and researchers.”

Barth Syndrome Foundation ( is the only global network of families, healthcare providers, and researchers solely driven by the mission to save lives through education, advances in treatment and finding a cure for Barth syndrome. BSF has funded nearly $4.9M USD since 2002 and catalyzed over $21M USD in funding from other agencies to advance global scientific discoveries to end the suffering and loss of life from Barth syndrome. Additionally, BSF provides a lifeline to families and individuals living with Barth syndrome around the world, offering 24/7 individualized support, educational conferences, a robust patient registry and collaborations with specialist healthcare providers to define standards of care, treatment and rapid diagnosis.

Barth syndrome is a rare, life-threatening, genetic mitochondrial disorder primarily affecting boys. Affected individuals may suffer from heart failure, muscle weakness, and infection (caused by neutropenia). Additional characteristics of the syndrome commonly include growth delay, impaired lipid metabolism, fatigue and cardiolipin deficiency. In some individuals affected by Barth syndrome, the symptoms can be very severe, sometimes resulting in heart transplant, potentially lethal infections, and even death.

“Central to the success of BSF is the sense of community and partnership demonstrated by patients, families, clinicians, and researchers.” – Erik Lontok PhD, Barth Syndrome Foundation Director of Research