News Summary
Tikun Therapeutics has been established to develop treatments for Familial Dysautonomia (FD), a rare genetic disorder affecting the nervous system. With a focus on drug development, Tikun aims to address the challenges faced by patients, including the symptoms associated with the ELP1 gene mutation. Their current candidates include gene therapies and splicing modulators, with ongoing clinical trials showing initial promise. The organization is striving to secure funding to advance these therapeutic options, offering renewed hope to those affected by this debilitating condition.
New Therapeutics Hope for Familial Dysautonomia Patients
There’s a fresh spark of hope for individuals affected by the rare genetic disorder Familial Dysautonomia (FD), thanks to a newly launched public benefit corporation named Tikun Therapeutics. This exciting initiative was founded by the Familial Dysautonomia Foundation, dedicated to developing much-needed treatments for this debilitating condition.
Understanding Familial Dysautonomia
Familial Dysautonomia is no walk in the park. It’s characterized by a myriad of challenges, including issues with sensation, such as limited ability to feel pain or changes in temperature. This disorder also disrupts involuntary functions such as heart rate, swallowing, and even vision. In more straightforward terms, it’s like having a body that doesn’t always respond the way it should, leading to daily struggles.
The culprit behind this condition is a mutation in the ELP1 gene. This genetic hiccup messes with mRNA splicing, ultimately affecting the creation of essential proteins that maintain nerve cells. Unfortunately, only about 350 cases of FD have been documented globally, and the disorder predominantly affects individuals of Ashkenazi Jewish descent.
Tikun Therapeutics Takes Action
Understanding the pressing need for these treatments, Tekun Therapeutics was established as a separate entity from the FD Foundation. While the foundation continues its invaluable role in supporting patients and advocating for research, Tikun focuses intently on drug development. The driving force behind this organization is Adam Sachs, the president and CEO, who also has personal ties to the condition as his son has FD.
At its heart, Tikun is all about restoration. The name “Tikun” stems from the Hebrew word meaning “restore,” perfectly capturing the essence of what the organization aims to achieve for FD patients—restoring vital protein function that the genetic mutation disrupts.
The Challenges Ahead
In the world of pharmaceuticals, there’s often a reluctance to invest in treatments for rare diseases, mainly due to high development costs and the small patient population. This obstacle has sparked nonprofit organizations and patient advocacy groups to pave the way for the development of essential drugs tailored for rare conditions like FD.
Tikun is working hard to get three innovative FD treatment candidates off the ground. These include a gene therapy, an antisense oligonucleotide (ASO), and a small molecule splicing modulator. These promising candidates were originally supported by the FD Foundation before Tikun took the reins.
Funding the Future
Recognizing that significant capital would be required to progress these candidates into clinical trials, Tikun Therapeutics is on the hunt for non-dilutive funding opportunities and grants. They’ve also made strides by receiving orphan drug designation from the FDA for two of their therapeutic programs, which comes with nice incentives like tax credits and fee exemptions.
Current Progress and Future Prospects
Tikun’s ASO candidate, which aims to correct the splicing defect, is currently in clinical trials. Excitingly, one patient has already received treatment through spinal injection. Meanwhile, the dysautonomia center at NYU Langone Health is gearing up to conduct most of Tikun’s therapy trials, thanks partly to funding from the FD Foundation.
Another of Tikun’s innovative candidates, BPN-36964, is an oral splicing modulator developed at Massachusetts General Hospital. It’s poised to correct the ELP1 mRNA splicing, while the third candidate, rAAV2-U1a-hELP1, is a gene therapy designed to express the ELP1 gene, hoping to prevent progressive optic neuropathy associated with FD.
Looking Ahead
Even as Tikun stays laser-focused on FD treatments, there’s an openness to explore broader applications of its candidates if they prove effective beyond just this one disorder. It’s all about collaboration. If the candidates show promise, working with industry partners could be on the table.
Ultimately, Tikun Therapeutics is focused on ensuring safety and efficacy, all while striving to expedite access for patients in need. If their pipeline delivers, there may even be a future where multiple therapeutic options could be used in combination.
With optimism in the air, Tikun is eager to make a significant impact in the lives of individuals grappling with Familial Dysautonomia. The journey ahead may be long, but the hope for innovative treatments is stronger than ever.
Deeper Dive: News & Info About This Topic
HERE Resources
Additional Resources
- Precision Medicine Online: Tikun Therapeutics & Familial Dysautonomia
- Wikipedia: Familial Dysautonomia
- Nature: Recent Developments in Familial Dysautonomia Research
- Google Search: Familial Dysautonomia
- Nature: Clinical Considerations for Familial Dysautonomia
- Encyclopedia Britannica: Genetic Disorder
