A touching insight into the origin of Dr. Hans' interest in rare diseases and how it touches his family.
Hello! I’m a rare disease Dad and doctor who can’t help himself to talk about rare diseases. Hopefully I touch upon a topic of your interest but please feel free to drop me a line.
In covering goals I have more on my son and Syngap1. Finding a balance between managing expectations and aiming for a cure! Hope you enjoy the listen
Podcast #3 takes trip down memory lane with ICD-10. Keep fighting for your code! You deserve it! Hope you enjoy the listen and please feel free to reach out!
ICD-11 will be the worldwide standard in coming years so get in now-- it’ll be easier than you think! While Syngap is indexed to LD90.Y, we have a permanent Unique Identifier (URI) here: https://id.who.int/icd/entity/1830660574 which will be of use in collecting data specific to Syngap1. Also ICD-11 plans on allowing extension coding to denote the affected gene in a condition. Hopefully this Chromosomal and Gene Axis rolls out soon so that docs can add Syngap1 as an extension code to LD90.Y!
Deep dives here: https://youtu.be/oZ0PhXv8pVg?si=CZJMT2eXQ3SlFTJL
And
At some point, you and the pediatrician need to plan transferring care of your ‘little’ loved one to an healthcare provider who manages adults. This can be a challenge and an event where something could fall through the cracks. Talk about it, plan it, and passing your care from one provider to the next shouldn’t let you down.
Resources here:
https://together.stjude.org/en-us/emotional-support-daily-life/transition-to-adult-health-care.html
Background:
https://www.nejm.org/doi/full/10.1056/NEJMsr2412784?logout=true
https://www.aarp.org/benefits-discounts/members-only-access/info-2025/where-are-all-the-doctors.html
Todays podcast is about learning lessons from the saddest outcomes.
Just over 3 weeks ago, Sarepta reported that a young man passed away after receiving their gene therapy for Duchenne Muscular Dystrophy. As a rare disease Dad, physician, and teammate in drug development, I want to share my 2 cents in the hopes it helps.
Resources here:
investorrelations.sarepta.com
Committee Recommends EU Trials of Sarepta's Elevidys Continue, Day After Holds
biospace.com
https://www.nejm.org/doi/full/10.1056/NEJMoa2307798?logout=true
https://cureduchenne.org/all-news/pfizer-ciffreo-webinar/
https://www.nature.com/articles/s41586-023-05949-1
https://www.nature.com/articles/s41586-023-05948-2?fromPaywallRec=false
Podcast #7 Todays podcast is about how impressive the ASGCT conference was this year! How great is it to hear KJ’s story and how everyone moved heaven and earth to treat him. What a huge win all around and an absolute dunk on NIH detractors. And beyond the huge news, there was also 4 abstracts on Syngap1: 1. An AAV effort by Biomarin and the Allen Brain Institute 2. A regRNA effort by Camp4 3. A deep phenotyping of a Syngap1 mouse by Jax Labs 4. A Syngap1 (and Rett) lentiviral therapy update from UC Davis The Syngap1 space is heating up and has the First-in-Human milestone insight!
RESOURCES LINKS: https://www.nejm.org/doi/full/10.1056/NEJMoa2504747?logout=true https://www.nejm.org/doi/full/10.1056/NEJMe2505721 https://annualmeeting.asgct.org/abstracts
Podcast #8 Todays podcast is about the Elevidys rollercoaster of the past 2 weeks. Risk: Benefit analysis is a bear the rare disease community, regulators, and the pharmaceutical industry constantly wrestle with. The best analysis happens when all the data is disclosed and discussed. The last thing anyone should do is make a premature judgment that takes away a therapy for a severely debilitating, life-threatening disease.
For the sake of the patients, Sarepta, Roche, and the FDA need to put their backs into disclosure, discussion, analysis, and patient-centered guidance!
RESOURCES LINKS: https://www.sarepta.com/community-letter-elevidys-safety-update
RWE starting point
https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2835400?resultClick=1
On October 1st, Camp4 Therapeutics reached a pivotal milestone: they dosed their first non-human primate in a Good Laboratory Practice study—typically the final research hurdle before filing an IND and opening human trials. For our community, this isn't just another press release. It's the moment we've been fighting toward.
In today's podcast, I walk you through the drug development process using Syngap1 as our lens. You'll gain a deeper understanding of the rigorous science, regulatory gauntlet, and sheer determination required to bring a therapy from concept to our loved ones. This journey is neither quick nor easy, but Camp4's progress proves it's possible.
If this study succeeds, we could see the first Syngap1 gene-targeting therapeutic tested in patients within reach. The next milestone isn't just approaching—it's tangible.
Stay hopeful. Stay realistic. And keep those fingers crossed, because the hard work of researchers, advocates, and families is bringing us closer than ever before.
I hope these podcasts help and if you have a topic you would like for me to address, please just drop me a note! Please note that these opinions are my own and should not reflect on my employer! And if I mention medical care, please talk to your doctor! 😊
RESOURCES LINKS:
Camp4 Press Release:
Resources:
Drug Development- https://ijlbpr.com/uploadfiles/22vol13issue1pp118-134.20240117085619.pdf
Syngap1 Discovery-
https://www.sciencedirect.com/science/article/pii/S0896627300804717
Human Target Validation-
https://pubmed.ncbi.nlm.nih.gov/30482795/
Syngap1 linked to human illness- https://www.nejm.org/doi/pdf/10.1056/NEJMoa0805392
Critical Syngap1 mouse work-
https://www.biologicalpsychiatryjournal.com/article/S0006-3223(14)00593-9/abstract
https://elifesciences.org/articles/46752
Stoke leading the way
Identifying hits to raise Syngap1
https://www.biorxiv.org/content/10.1101/2025.03.13.643156v1
Dr David Altshuler on science decision-making in pharma
Copyright © 2025 Rare Diseases with Dr.Hans - All Rights Reserved. Disclaimer: The views expressed in these videos are those of Dr. Hans alone and do not reflect the views of his employer. Also any medical advice is for entertainment purposes only and people needing medical advice should seek their own medical professionals.
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