April 24, 2025

Tikun Therapeutics: Advancing Treatments for Familial Dysautonomia

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News Summary

Tikun Therapeutics, established by the Familial Dysautonomia Foundation, aims to develop treatments for familial dysautonomia (FD), a rare genetic disorder affecting sensory and autonomic functions. With leadership rooted in personal connection and a focus on innovative therapies, the organization seeks funding to advance clinical trials and improve patient care. Tikun’s promising treatment candidates, including antisense oligonucleotides and gene therapies, are showing potential in early trials, bringing hope to the FD community.

Tikun Therapeutics: A New Frontier in the Fight Against Familial Dysautonomia

In an exciting development for those affected by familial dysautonomia (FD), a new organization, Tikun Therapeutics, has made its debut. Founded by the Familial Dysautonomia Foundation, this public benefit corporation is stepping into the spotlight with a mission to tackle FD, a rare genetic disorder that presents a range of challenges for patients and their families.

What is Familial Dysautonomia?

Familial dysautonomia is a genetic condition that can create difficulties in several sensory and autonomic functions of the body. People living with FD might struggle with sensation issues, which means they could have problems feeling pain or changes in temperature. It can also affect involuntary functions like heart rate, swallowing, vision, and even balance! All of this stems from a mutation in the ELP1 gene, causing disruption in mRNA splicing. This ultimately leads to the absence of a crucial protein that is vital for maintaining healthy nerve cells.

Why Tikun Therapeutics?

With around 350 known cases of FD globally, primarily among individuals of Ashkenazi Jewish descent, the number of patients may be relatively small, but their needs are mighty. Seeing a gap in pharmaceutical investment due to the high costs associated with developing treatments for rare diseases, the FD Foundation recognized the necessity for a dedicated approach. Enter Tikun Therapeutics, aimed to push forward drug development while continuing to support patient care and research advocacy.

Leadership with a Personal Touch

Tikun is under the leadership of its president and CEO, who is also a board member of the FD Foundation. He brings a deeply personal connection to the mission, as he has a son diagnosed with the condition. This leadership adds a layer of empathy and urgency in the pursuit of effective treatments for FD.

What is Tikun Doing?

Currently, Tikun Therapeutics is operating on a volunteer basis; it does not have any employees yet. The company is focusing on advancing three promising treatment candidates for FD: an antisense oligonucleotide (ASO), a gene therapy, and a small molecule splicing modulator. These candidates were conceived before Tikun’s inception, as the FD Foundation pushed for tangible solutions for patients fortunate enough to be included in clinical trials.

Seeking Funding and Support

Understanding the financial challenges pitting them against big pharmaceutical companies, Tikun has set its sights on pursuing non-dilutive funding opportunities and grants. This strategy is essential to raise the necessary capital to positively impact the lives of patients with FD. Remarkably, the company has received orphan drug designation from the FDA for two treatment programs, granting them advantageous benefits such as tax credits and fee exemptions.

Progress in Clinical Trials

One of Tikun’s treatment candidates, the ASO designed to correct the splicing defect, is already in the exciting phase of clinical trials. Early results are promising, with at least one patient having received the treatment through spinal injection. Meanwhile, the company’s second candidate, BPN-36964, is an innovative oral splicing modulator developed with the goal of correcting the ELP1 mRNA splicing defect.

More to Come: Hope for the FD Community

The third candidate in Tikun’s pipeline is a gene therapy called rAAV2-U1a-hELP1, designed to express the ELP1 gene, potentially preventing progressive optic neuropathy often seen in FD patients. The dysautonomia center at NYU Langone Health plays a significant role in running the majority of Tikun’s trials, thanks to funding from the FD Foundation.

Looking Ahead

Although Tikun Therapeutics is focused specifically on FD treatments, there’s a world of possibilities ahead. If these candidates prove effective, there may be scope for broader applications beyond this rare disorder. The ultimate goal is to prioritize patient safety and efficacy, while working diligently to expedite access to these potential life-altering therapies.

With optimism at its core, Tikun Therapeutics is forging a hopeful path in the realm of rare genetic disorders, and the FD community eagerly watches as new developments unfold. The potential for a combination regimen of these therapeutic candidates could redefine the future for many living with familial dysautonomia.