From Treating Symptoms to Addressing Causes in Rare Autoimmune Diseases

·24 min·2 clips

Sanofi explores how one drug, rilzabrutinib, could treat multiple rare autoimmune diseases by targeting their shared biological cause.

The episode begins with host Daniel Levine introducing the topic of rare autoimmune diseases and Sanofi's exploration of similarities across them. He interviews Pablo Sardi, head of rare disease research at Sanofi, focusing on the oral BTK inhibitor rilzabrutinib (branded as weirles for ITP). Sardi explains that BTK is a common target in immune dysregulation underlying various autoimmune disorders, starting with its approval for immune thrombocytopenia (ITP). He uses an analogy of an overly sensitive home alarm system to describe how BTK inhibition tunes down the misfiring immune system across different 'rooms' or disease manifestations. The discussion covers specific indications: warm autoimmune hemolytic anemia (affecting 1-3 in 100,000), IgG4-related disease, and sickle cell disease. For sickle cell, Sardi notes it's a genetic disease affecting 100,000 in the U.S., but research shows it involves a chronic inflammatory cycle that BTK inhibitors might quell. He details preclinical studies showing BTK's effectiveness in reducing inflammation compared to other therapies. Sardi addresses challenges like patient identification, trial endpoints, and regulatory expectations when testing one drug across multiple rare diseases. He emphasizes the potential for oral small molecules like rilzabrutinib to improve global access compared to gene therapies or transplants. The conversation shifts to broader R&D implications, with Sardi citing vanglustab for Gaucher type 3 as another example of a multi-indication approach. He discusses prioritization based on unmet need and feasibility. Towards the end, Sardi calls for clinicians to rethink diseases from symptoms to underlying causes and accelerate diagnosis times for rare diseases. The episode concludes with thanks and promotional details for Global Genes resources.

As heard by us

A measured episode on how BTK research connects rare-disease symptoms with mechanism-driven care.

Rare autoimmune diseases can seem separate at first glance, but Rarecast keeps its focus on the biology they may share. Daniel Levine talks with Pablo Sardi, head of rare disease research at Sanofi, about rilzabrutinib, an oral BTK inhibitor, and the push to match treatment with…

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You want to know whether one immune target can travel across rare diseases without losing the plot.

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