Mitochondrial Challenges: Innovations in Research and Patient-Centered Care

Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Already an estimated one in 5,000 people suffers from some form of the disease, many of whom struggle to walk, talk, see, or digest food.*?

Mitochondrial disease affects men and women, children and adults, and individuals of all ethnic and racial groups, with complications that range from seizures to strokes to death.?

Currently, there are no cures for mitochondrial diseases.?

“But we’re getting close!” says Philip Yeske, Ph.D., Science and Alliance Officer at the United Mitochondrial Disease Foundation (UMDF).

RiverVest's latest Expert Insight explores the role of patient advocacy groups in therapeutic drug development for patients with rare diseases. Learn how one biopharma company is tackling mitochondrial disease by listening to the experts: the patients and families who live with the disease every day. Featured are the United Mitochondrial Disease Foundation (UMDF), Europe's Lily Foundation, and Reneo Pharmaceuticals.

*Links and citations are included in the article.

The Mighty Mitochondria

“Mitochondrial energy is used for everything: walking, breathing, thinking… existing as an entity on the planet,” says Niall O’Donnell, Ph.D., managing director of the life sciences venture capital firm RiverVest Venture Partners. “There’s not a single process in your body that doesn’t require energy from the mitochondria.”?

Broadly speaking, mitochondrial disease is caused by mutations in mtDNA and nDNA that disrupt the ATP creation pathway, stunting the ability of mitochondria to create energy.

[Read the full article at RiverVest.com]

Voice of the Patient

“The key to unlocking mitochondrial disease therapies – or any orphan disease therapy – is establishing symbiotic relationships between drug researchers and patient advocacy groups,” says Wendy Newman, MPH, head of global patient advocacy at Reneo Pharmaceuticals, Inc.

“Patients can share their views on whether a study design is practical, if the research is meaningful to them, and if it addresses a real unmet need,” says Alison Maguire, head of research and finance at the Lily Foundation.

In the Clinic

One company on the frontlines of therapeutic development for patients with mitochondrial disease is Reneo Pharmaceuticals (NASDAQ: RPHM), co-founded by O’Donnell and RiverVest in 2014.

Reneo’s lead drug candidate mavodelpar (REN 001) is being developed in primary mitochondrial myopathies (PMM) and long-chain fatty acid oxidation disorders (LC-FAOD), two rare diseases that typically present with weakness, fatigue, cramping, and wasting of muscle (myopathy) and for which there is no approved treatment.

A pivotal Phase 2b clinical trial (the “STRIDE” study) of mavodelpar in patients with PMM with mitochondrial DNA (mtDNA) mutations and myopathy is currently in progress, with 213 adult patients participating.

“It’s important to remember that every data point – especially in the rare disease space – is extremely valuable, whether a clinical trial is successful or not. Each trial builds on the next, testing the drug candidate’s safety and efficacy in larger groups or other diseases. We need that data to educate the FDA and to design new trials. That’s when the floodgates of activity start to open.”?

In addition to its STRIDE study, Reneo continues to explore the potential for mavodelpar in treating other rare diseases that affect the mitochondria.

Learn More about Mitochondrial Disease

• The United Mitochondrial Disease Foundation's mission is to promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families.
• The Lily Foundation is the UK’s leading mitochondrial disease charity and the largest charitable funder of mitochondrial research in Europe.?
• Reneo Pharmaceuticals, Inc. (NASDAQ: RPHM) is a clinical-stage pharmaceutical company focused on the development of therapies for patients with rare genetic diseases including mitochondrial diseases with significant unmet medical needs.

About RiverVest

RiverVest Venture Partners??is a leading venture capital firm building life science companies to address significant unmet needs of patients and deliver consistently strong results to investors.