News Summary
Tikun Therapeutics has been established as a public benefit corporation dedicated to developing treatments for Familial Dysautonomia (FD), a rare genetic disorder. Founded by the Familial Dysautonomia Foundation, Tikun aims to address the urgent need for effective therapies, researching three promising treatment candidates. Led by CEO Adam Sachs, whose personal connection fuels the initiative, Tikun operates via grassroots support and reflects hope for the FD community in finding viable treatments.
Tikun Therapeutics: A New Hope for Familial Dysautonomia
In an inspiring move to tackle a rare and debilitating genetic disorder known as Familial Dysautonomia (FD), a brand new organization called Tikun Therapeutics has been launched as a public benefit corporation. Founded by the Familial Dysautonomia Foundation, Tikun aims to develop effective treatments for this challenging condition, and the initial response is promising!
Understanding Familial Dysautonomia
So, what exactly is Familial Dysautonomia? This rare genetic disorder is characterized by a wide array of symptoms, including sensory issues like limited pain and temperature sensation, as well as dysfunction of involuntary bodily functions such as heart rate, swallowing, balance, and vision. Most significantly, FD is caused by a mutation in the ELP1 gene, which messes up the body’s ability to splice mRNA, this crucial process leads to a deficiency in a protein that is vital for keeping nerve cells healthy.
The Driving Force Behind Tikun
The formation of Tikun Therapeutics marks a pivotal step forward in the fight against FD. The FD Foundation decided to create this separate entity to focus entirely on drug development while continuing to support patient care and research advocacy. Leading the charge is Adam Sachs, president and CEO of Tikun, who also happens to be a board member of the FD Foundation and is deeply invested in the mission, as he has a son living with this condition.
Currently, Tikun is run entirely by volunteers, reflecting the grassroots nature of its operation as it seeks to fulfill its vital mission without any paid staff. While there are only about 350 known cases of FD worldwide, primarily affecting individuals of Ashkenazi Jewish descent, the need for effective treatment is urgent.
The Meaning of Tikun
The name “Tikun” stems from a Hebrew word meaning “restore,” which beautifully aligns with the organization’s mission to restore proper protein function for those battling FD. This poetic connection highlights a hopeful outlook in the face of adversity.
Challenges in Rare Disease Treatment Development
One of the key challenges in developing treatments for rare diseases like FD is that many pharmaceutical companies are hesitant to invest due to the high development costs and the small patient population. In light of this, nonprofit organizations and patient advocacy groups are stepping in to help facilitate the development of much-needed treatments.
Tikun’s Research Focus
Tikun is currently concentrating its efforts on three promising treatment candidates: an antisense oligonucleotide (ASO), a gene therapy, and a small molecule splicing modulator. Prior to Tikun’s establishment, these candidates were already receiving support from the FD Foundation. Realizing that substantial funding would be crucial for advancing these programs into clinical trials, Tikun was born.
The organization is actively pursuing non-dilutive funding opportunities and grants to fuel their initiatives. They’ve made notable strides, including receiving orphan drug designation from the FDA for two of their candidates, which provides valuable incentives like tax credits and fee exemptions.
Exciting Developments in Clinical Trials
Currently, their ASO candidate, designed to correct the splicing defect, is undergoing clinical trials, with one patient already having received treatment via a spinal injection. This is an exciting step towards finding effective therapies!
Progress and Future Prospects
The dysautonomia center at NYU Langone Health is expected to conduct the majority of Tikun’s therapy trials, and it receives much of its funding from the FD Foundation. One noteworthy candidate, BPN-36964, is an oral splicing modulator developed at Massachusetts General Hospital, aimed at correcting ELP1 mRNA splicing.
On the other hand, the third candidate, rAAV2-U1a-hELP1, is a gene therapy designed to express the ELP1 gene and guard against progressive optic neuropathy, a common issue faced by FD patients.
Tikun’s Commitment to Patients
Tikun remains steadfast in its commitment to develop treatments specifically for FD, although they also recognize potential wider applications for their therapeutic candidates. Collaborative efforts may be pursued if their candidates prove effective beyond just FD. Their top priority is ensuring the safety and efficacy of their therapies while looking to expedite access for those in need.
If Tikun is successful in its endeavors, it could pave the way for a combination treatment regimen using multiple therapeutic candidates. With optimism buzzing in the air, Tikun Therapeutics stands as a beacon of hope for the FD community, armed with a pipeline of innovative therapeutic approaches that could change lives!
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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