On Rare Diseases Day, New Partnerships and Investments Could Deliver Potential Breakthroughs

The diseases may be rare, but their impact is profound. There are over 7,000 known rare diseases that affect approximately 400 million people worldwide. As part of its ongoing efforts to address this staggering burden, Pfizer recently entered into a collaboration with biotechnology company Beam Therapeutics aimed at developing precision genetic medicines for rare diseases of the liver, muscles and central nervous system.^[1]

Beam’s approach uses mRNA and lipid nanoparticles (LNP), two promising technologies to deliver base editors to organs.^[2] The approach, which Pfizer CEO Dr. Albert Bourla calls “the most promising technology” in the field, targets a single base in the genome, which has the potential to be more precise than traditional gene editing techniques.

On this Rare Disease Day, the collaboration offers new hope that Pfizer and partners like Beam can use mRNA, LNP and other innovations to deliver potential breakthroughs for patients.

A Potentially Best-in-Class Technology

Beam’s base editing technology is designed to allow for gene editing, activation, silencing and modification to address specific genetic disorders. The technology has the potential to be highly specific and predictable.

The collaboration will combine the potentially best-in-class base editing platform with Pfizer’s proven experience in developing and manufacturing medicines and vaccines.

Pfizer’s rare disease pipeline has more than 10 investigational medicines in clinical development, with more than five new molecular entities and three gene therapy programs in Phase 3. The company also has 12 preclinical programs investigating potential treatments for rare cardiology, endocrine, hematology, metabolic and neurology diseases with approximately one to two first-in-patient clinical study starts anticipated each year.

“We have a strong history in developing gene replacement therapies for rare diseases, and we see this collaboration with Beam as an opportunity to advance the next generation of gene editing therapies – an exciting scientific frontier – potentially leading to transformation for people living with rare genetic diseases,” said Pfizer’s Chief Scientific Officer Mikael Dolsten.

A Commitment to Finding New Treatments for Rare Diseases

More than 50 percent of patients with rare diseases are children and, tragically, 30% percent of them will not live beyond their fifth birthday.

Pfizer has been working to develop treatment options for patients for more than 30 years, and in 2020 alone, these medicines reached more than 120,000 people living with a rare disease.

In December, the company opened a new $68.5 clinical manufacturing facility in Durham, N.C. to help advance its work in gene therapy. The facility will house the company’s BioTherapeutics Pharmaceutical Sciences Group, which is responsible for the manufacturing and analytical release of clinical supplies for Pfizer’s gene therapy and biologics portfolio.^[3]

There are still many unmet needs. That’s why Pfizer intends to continue building and expanding on its work in rare diseases, which is one of six core therapeutic areas for the company.

[1] Pfizer and Beam Enter Exclusive Multi-Target Research Collaboration. Available here.
[2] Pfizer Advancing Our mRNA Strategic Development. Available here.
[3] Pfizer Invests $68.5 Million in New State-of-the-Art Facility in Durham, North Carolina. Available here.