Tikun Therapeutics Inc. is pleased to announce that the FDA has granted both Orphan Drug Designation and Rare Pediatric Disease Designation for rAAV2-U1a-hELP1, a recombinant adeno-associated virus expressing the human ELP1

Tikun Therapeutics Inc.很高兴地宣布，FDA已授予rAAV2-U1a-hELP1（一种表达人类的重组腺相关病毒）孤儿药和罕见儿科疾病的名称ELP1

gene for the treatment of optic neuropathy in familial dysautonomia (FD), and for  BPN-36964, a small molecule splicing modulator for systemic treatment of familial dysautonomia.

用于治疗家族性自主神经异常（FD）视神经病变的基因，以及用于全身治疗家族性自主神经异常的小分子剪接调节剂BPN-36964的基因。

Tikun Therapeutics is an early-stage Public Benefit Corporation (PBC) wholly owned by the

Tikun Therapeutics是一家由

Familial Dysautonomia Foundation

家族性自主神经障碍基金会

, supported by both grants and donations and focused on driving drug development for the ultra rare and progressive genetic disease familial dysautonomia (FD).

，得到赠款和捐款的支持，并专注于推动超罕见和进行性遗传疾病家族性自主神经障碍（FD）的药物开发。

FD is a severe orphan disease that is present at birth and characterized by sensory and autonomic dysfunction. Classic hallmarks include reduced pain and temperature sensation, impaired swallowing and cardiovascular instability. As patients enter their teen years, they also develop a progressive loss of vision and balance.

FD是一种严重的孤儿疾病，出生时就存在，其特征是感觉和自主神经功能障碍。经典的标志包括减轻疼痛和体温感，吞咽障碍和心血管不稳定。随着患者进入青少年时期，他们也会逐渐丧失视力和平衡。

The disease is autosomal recessive, and results from inheritance of a point mutation in the gene .

该疾病是常染色体隐性遗传，是由基因中的点突变遗传引起的。

ELP1

ELP1

; over 99.5% of patients are homozygous for the original founder mutation.

；超过99.5%的患者是原始创始人突变的纯合子。

There are no approved disease-modifying therapeutics that rectify the FD genetic mutation, nor prevent the progressive neurodegeneration that occurs as FD children mature. Tikun Therapeutics is driving the development of two therapeutics: (1) a gene replacement therapy, AAV2-U1a-hELP1, and (2) a small molecule splicing modulator,  BPN-36964.

没有批准的疾病缓解疗法可以纠正FD基因突变，也不能预防FD儿童成熟时发生的进行性神经变性。Tikun Therapeutics正在推动两种疗法的发展：（1）基因替代疗法AAV2-U1a-hELP1和（2）小分子剪接调节剂BPN-36964。

Each therapeutic has its advantages with the small molecule oral treatment being able to efficiently pass the blood-brain barrier and correct .

每种治疗方法都有其优点，小分子口服治疗能够有效地通过血脑屏障并纠正。

ELP1

ELP1

mRNA splicing throughout the entire body. In an FD mouse model, small molecule splicing modulators like BPN-36964 have been shown to correct

mRNA在整个身体中剪接。

ELP1

ELP1

mRNA splicing, increase the amount of ELP1 protein, and prevent the progressive neuronal degeneration seen in FD. BPN-36964 is being developed in collaboration with Professor Susan Slaugenhaupt’s laboratory at Massachusetts General Hospital.

mRNA剪接，增加ELP1蛋白的量，并防止FD中出现的进行性神经元变性。BPN-36964正在与马萨诸塞州总医院苏珊·斯劳根豪普教授的实验室合作开发。

While the gene replacement therapy vector can also be used systemically, the initial focus is to specifically prevent the severe progressive optic neuropathy that virtually all FD patients develop. Optic neuropathy in FD is due to the death of retinal ganglion cells (RGCs) that occurs as children mature.

虽然基因替代疗法载体也可以全身使用，但最初的重点是专门预防几乎所有FD患者都会出现的严重进行性视神经病变。FD中的视神经病变是由于儿童成熟时发生的视网膜神经节细胞（RGC）死亡。

There is currently no treatment and patients typically lose their vision during their second or third decade of life, dramatically reducing their quality of life. Because RGCs are accessible via an injection into the eye, the goal is to treat FD patients with a single injection. The vector was developed in the laboratory of Dr.

目前没有治疗方法，患者通常在生命的第二或第三个十年中失去视力，从而大大降低了他们的生活质量。由于RGC可以通过眼睛注射进入，因此目标是通过单次注射治疗FD患者。该载体是在Dr。

Frances Lefcort (Montana State University) where it was demonstrated that intravitreal injection of the vector into the eyes of an FD mouse model could significantly reduce the death of retinal ganglion cells..

弗朗西斯·莱夫科特（蒙大拿州立大学）在那里证明，将载体玻璃体内注射到FD小鼠模型的眼睛中可以显著减少视网膜神经节细胞的死亡。

“We are excited to receive these designations from the FDA, which emphasize the potential of both rAAV2-U1a-hELP1 and BPN-36964 to make a meaningful impact on the lives of FD patients and their families,”

“我们很高兴收到FDA的这些任命，这些任命强调了rAAV2-U1a-hELP1和BPN-36964对FD患者及其家人的生活产生有意义影响的潜力。”

said Adam Sachs, President and CEO of Tikun Therapeutics and a long time biopharmaceutical executive and father of an FD patient

Tikun Therapeutics总裁兼首席执行官亚当·萨克斯（AdamSachs）说，他长期担任生物制药高管，也是FD患者的父亲

. “This recognition highlights the commitment and dedication of our research scientists to advance treatments for this ultra rare and devastating disease.”

“这一认可突显了我们的研究科学家致力于推进这种极为罕见和毁灭性疾病的治疗。”

“Having two different therapeutic mechanisms with distinct delivery routes for treating FD is tremendously promising. While many symptoms of the disease are present at birth, it has become very clear that we can reduce, and perhaps prevent altogether the progressive blindness and balance disorder that patients develop as they enter their teens” .

“有两种不同的治疗机制和不同的递送途径来治疗FD是非常有希望的。虽然这种疾病的许多症状在出生时就存在，但很明显，我们可以减少，甚至可以完全预防患者进入青少年时发展的进行性失明和平衡障碍”。

said Frances Lefcort, CSO of Tikun Therapeutics.

Tikun Therapeutics的CSO Frances Lefcort说。

The FDA Office of Orphan Products Development grants orphan drug designation to support the development of medicines for rare disorders that affect fewer than 200,000 people in the U.S. This designation represents a significant milestone and qualifies a company for several key benefits, including seven years of market exclusivity upon approval, tax credits for clinical trial costs, exemptions from certain FDA clinical trial fees and essential support in clinical trial design.

美国食品和药物管理局孤儿产品开发办公室（FDA Office of Orphan Products Development）授予孤儿药称号，以支持针对美国不到20万人的罕见疾病的药物开发。这一称号代表了一个重要的里程碑，并使一家公司有资格获得几个关键利益，包括批准后七年的市场排他性，临床试验费用的税收抵免，某些FDA临床试验费用的豁免以及临床试验设计的基本支持。

These incentives enable companies to bring innovative treatments to market more efficiently, ultimately benefitting patients with rare diseases..

这些激励措施使公司能够更有效地将创新疗法推向市场，最终使患有罕见疾病的患者受益。。

Companies awarded a rare pediatric disease designation may be eligible to receive a rare pediatric disease priority review voucher from FDA when the designated drug is approved for the associated indication in the pediatric population. The voucher can be redeemed to receive a priority review for any subsequent marketing application, or may be sold or transferred.

当指定药物被批准用于儿科人群的相关适应症时，获得罕见儿科疾病指定的公司可能有资格从FDA获得罕见儿科疾病优先审查凭证。凭证可以兑换以获得后续任何营销应用程序的优先审查，也可以出售或转让。

This program is intended to encourage the development of new drugs for the treatment of rare pediatric diseases..

该计划旨在鼓励开发治疗罕见儿科疾病的新药。。

Tikun Therapeutics is wholly owned by the Familial Dysautonomia Foundation

Tikun Therapeutics由家族性自主神经障碍基金会

. The Familial Dysautonomia Foundation, Inc. was formed in 1951 by desperate parents searching for a way to help their children living with familial dysautonomia. Today, the Foundation works for the benefit of all people afflicted with FD by supporting medical care and scientific research, as well as conducting social service and public awareness programs.

家族性自主神经障碍基金会成立于1951年，由绝望的父母组成，他们正在寻找一种方法来帮助患有家族性自主神经障碍的孩子。今天，该基金会通过支持医疗保健和科学研究，以及开展社会服务和公众意识计划，为所有患有FD的人造福。

The Foundation continues to be the main source of funding for the world’s only .

该基金会仍然是全球唯一的主要资金来源。