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Ionis Pharmaceuticals founder Stanley Crooke on the fight against rare diseases
CNBC Televisionยท2025-07-23 11:41

Rare Disease Landscape - Rare diseases, though individually impacting small populations (typically fewer than a few hundred thousand patients), collectively affect over 25 million people in the US [1] - Diagnosis, care, and effective treatment for rare diseases often require significant time and resources from patients and families [1] - The market for individual rare diseases is often too small for drug companies to invest in developing treatments [2][5] - Nanorare diseases, affecting fewer than 30 people worldwide, present extreme challenges and a sense of hopelessness for patients [6] ASO Technology & En Laura's Approach - Antisense Oligonucleotides (ASOs) are chemically modified genetic information used to target specific targets in cells, offering a more efficient and precise drug discovery platform [8] - ASOs address the cause of genetic diseases, not just the symptoms, by using genetic information to identify patients and create drugs [8] - En Laura aims to treat patients within 18-24 months of starting a new drug discovery program, a significantly shorter timeframe than traditional methods [18] - The estimated lifetime cost to treat a patient with ASOs is around $1 million, with a goal to reduce it to $800,000 [18] Clinical Outcomes & Optimism - Treatment with ASOs has shown promising results, including seizure control, regaining lost skills, and developing new functions in patients with SCN28 mutations [10][12] - The success observed challenges the previous understanding that developmental delays are irreversible [12] - ASOs are considered a safe and effective approach, supported by FDA guidance that allows rapid clinical trials with limited animal data [16][17] Comparison with Gene Therapy - ASOs differ from gene therapy, which involves introducing a large DNA molecule (a whole gene plus a vector) into the body, triggering immune responses and potential side effects [14][15] - While some gene therapies have been successful, their permanence is questionable, and they often require immunosuppression, whereas ASOs have demonstrated safety and effectiveness [15][16]