Developing treatments for rare pediatric diseases

Rare diseases affect around 1 in 2,000 people. Many of the thousands of rare diseases are difficult to diagnose. Of the known rare diseases, about 80% have genetic causes.  

Leukodystrophies are a group of rare genetic disorders for which there is currently no curative therapy.

This week on the podcast we are discussing novel treatments of rare pediatric diseases in a conversation with Dan Williams, CEO, executive director and co-founder of Synaptix Bio. Synaptix Bio is working on developing treatments for severe leukodystrophies. 

The company has partnered with the Children’s Hospital of Philadelphia to take a TUBB4a leukodystrophy therapy to the clinic and beyond. 

01:41-05:08: About Synaptix Bio
05:08-07:07: What are rare diseases?
07:07-09:36: How do you develop treatments for rare diseases?
09:36-11:15: How many rare diseases have treatments?
11:15-13:32: What is the space looking like for companies looking to develop rare disease treatments?
13:32-14:10: How does the fact that many rare diseases are genetic affect drug development?
14:10-16:21: Do the low numbers of people with rare diseases affect funding and research? 
16:21-17:55: Are the drugs being developed useful in treating other diseases?
17:55-22:44: What is H-ABC?
22:44-23:25: Are there any treatments for H-ABC? 
23:25-25:15: Where is Synaptix Bio with clinical trials?
25-15-27:40: How do you design clinical trials for H-ABC with the number of patients being low?

This week’s podcast was sponsored by KBI Biopharma. Visit their facility in Geneva, Switzerland, on June 27, to join the discussion on solving biotherapeutic challenges. Register at kbibiopharma.com/conferences.

Interested in being a sponsor of an episode of our podcast? Discover how you can get involved here! 

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Chapters

• 1:41 About Synaptix Bio
• 5:08 What are rare diseases?
• 7:07 How do you develop treatments for rare diseases?
• 9:36 How many rare diseases have treatments?
• 11:15 What is the space looking like for companies looking to develop rare disease treatments?
• 13:32 How does the fact that many rare diseases are genetic affect drug development?
• 14:10 Do the low numbers of people with rare diseases affect funding and research?
• 16:21 Are the drugs being developed useful in treating other diseases?
• 17:55 What is H-ABC?
• 22:44 Are there any treatments for H-ABC?
• 23:25 Where is Synaptix Bio with clinical trials?
• 25:15 How do you design clinical trials for H-ABC with the number of patients being low?