Navigating the Challenges of the Orphan Drug Market

Описание: Johanna Rossell, Senior Vice President and General Manager of Rare Diseases at Sumitomo Pharma America, discusses best practices for navigating challenges of the orphan drug market and provides personal experience through her work with congenital athymia.

Congenital athymia is a rare disease characterized by the absence of a functioning thymus and is commonly associated with several genetic and syndromic disorders. Congenital athymia can result from defects in genes that impact thymic organ development such as FOXN1 and PAX1, among others. Athymic patients often present with absent T cells but normal numbers of B cells and natural killer cells. Patients with congenital athymia have profound immunodeficiency, increased susceptibility to infections, and frequently, autologous graft-versus-host disease.

Rethymic (allogeneic processed thymus tissue-agdc) was the first tissue-based treatment to be approved by the U.S. Food and Drug Administration (FDA) in 2021 for congenital athymia. The treatment is developed from thymus tissue and reengineered to target patients’ ability to develop an immune system.

Ms. Rossell recently gave a presentation at the 2025 WODC meeting where she gave valuable insight into navigating challenges of the orphan drug market and provided examples of her work with Rethymic. She noted four main challenges that pharmaceutical companies face when trying to commercialize their drug and get it in the hands of rare disease patients.

The first challenge is generating robust data with clinical meaningfulness. This is key in gaining an FDA approval can be challenging in rare disease populations where numbers are small.

Secondly, pharmaceutical companies face complex manufacturing challenges when dealing with novel therapies. Ms. Rossell stresses the importance of scalability in companies while sticking to practices that are sustainable but can allow for the effective treatment of patients.

The third challenge is demonstrating the value in a product to both the healthcare system as well as patients. This is done through creating effective programming and messaging that gets the word out about a treatment to those populations.

With the last challenge, Ms. Rossell describes how to take advantage of different regulatory approval pathways. These may include specific designations such as Regenerative Medicine Advanced Therapy, Breakthrough, Rare Pediatric Disease, Orphan Drug, etc. The achievement of such designations is important in being able to have more conversations with regulatory agencies and learning what they want to see to help better the chances of a treatment approval.

Chapters:
Introduction 00:00
Congenital Athymia Overview 00:56
Diagnosis and Treatment With Rethymic 2:19
Challenges of the Orphan Drug Market 4:57