SpringWorks Therapeutics Secures FDA Approval for Rare Disease Drug Gomekli

SpringWorks Therapeutics has achieved a significant milestone with the FDA approval of Gomekli (mirdametinib) for the treatment of neurofibromatosis type 1 (NF1). This approval marks a turning point for adult patients with NF1, who previously had no approved treatment options.

A Collaborative Effort in Rare Disease Drug Development

The journey of Gomekli from a discontinued Pfizer asset to an FDA-approved treatment exemplifies a new model for rare disease drug development. The Children's Tumor Foundation (CTF), a nonprofit patient advocacy group, played a crucial role in rescuing the drug from Pfizer's intellectual property portfolio.

Annette Bakker, CEO of CTF, spearheaded the effort to revive the drug's development. "We couldn't have done this without CTF," said Jim Cassidy, SpringWorks' chief medical officer. The foundation's involvement extended beyond initial advocacy, as they assisted SpringWorks in planning clinical trials and patient recruitment.

Clinical Success and FDA Approval

The Phase IIb ReNeu trial demonstrated Gomekli's efficacy in both adult and pediatric NF1 patients. Key results include:

• 41% objective response rate in adults and 52% in children
• Tumor volume reductions of 41% in adults and 42% in children
• 80% of adults and 90% of children achieving a confirmed response of at least 12 months
• Half of the patients maintaining a response at 24 months

These compelling data led to the FDA approval on February 11, 2025, marking SpringWorks' second rare disease drug approval following Ogsiveo for desmoid tumors 18 months prior.

A New Model for Rare Disease Drug Development

The success of Gomekli highlights a potentially replicable model for developing treatments for rare diseases. Bakker believes this approach could be applied to "every rare disease under the sun."

SpringWorks Therapeutics, launched in September 2017 with a $103 million Series A funding round, was founded on the principle of advancing investigational therapies for underserved patients. The company's collaborative business model aims to deliver both social and financial returns by partnering with scientists, biopharma companies, patient groups, and philanthropists.

As the pharmaceutical industry continues to evolve, the story of Gomekli serves as a powerful example of how collaboration between patient advocacy groups, biotech companies, and larger pharmaceutical firms can bring much-needed treatments to patients with rare diseases.