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CAMP4 CEO on landmark SYNGAP1 trial

CAMP4首席执行官谈具有里程碑意义的SYNGAP1临床试验

CNBC Cures

CNBC 治愈

CNBC Cures is proudly underwritten by Alexion, AstraZeneca Rare Disease, whose support enables our journalism to elevate stories that advance research, innovation and patient care in rare diseases.

CNBC Cures 由 Alexion、阿斯利康罕见病部门自豪地赞助支持，其支持使我们的新闻报道能够提升那些推动罕见病研究、创新和患者护理的故事。

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Regulators in Australia are providing hope to thousands of patients around the world that suffer from a rare genetic disease that currently has no approved treatment.

澳大利亚监管机构为全球数千名患有罕见遗传病且目前尚无获批治疗药物的患者带来了希望。

Late last month, CAMP4 Therapeutics was given permission by Australia's top drug regulator to initiate a clinical trial for its therapy designed to treat SYNGAP1-related disorders, a rare genetic disease marked by epilepsy and neurodevelopmental delays. The trial, which will be designed to test the safety, efficacy and dosing of the the drug, mark the first time the antisense oligonucleotide treatment, or ASO, will be used in people, and represents a major milestone for patients that suffer from .

上月末，澳大利亚顶级药品监管机构批准CAMP4 Therapeutics启动一项临床试验，以测试其旨在治疗SYNGAP1相关疾病的疗法。SYNGAP1相关疾病是一种罕见的遗传性疾病，其特征为癫痫和神经发育迟缓。该试验旨在评估药物的安全性、有效性和剂量方案，标志着这种反义寡核苷酸（ASO）疗法首次用于人体，对于饱受该病困扰的患者而言，这是一个重要的里程碑。

SYNGAP1

SYNGAP1

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SynGAP is a protein crucial to brain development. It helps with learning and memory, and also with regulating communication in the synapses of the brain. Patients with SYNGAP1 suffer from a genetic mutation that causes their brain to receive less of the SynGAP protein.

SynGAP 是一种对大脑发育至关重要的蛋白质。它有助于学习和记忆，并调节大脑突触间的通信。SYNGAP1 患者携带一种基因突变，导致其大脑中的 SynGAP 蛋白含量减少。

And while just over 1,800 SYNGAP1 patients have been identified globally, researchers believe that number is much higher. Mutations in the SYNGAP1 gene are surprisingly common and are estimated to account for between 1%-2% of all intellectual disabilities.

尽管全球已识别的SYNGAP1患者仅略超过1,800例，但研究人员认为实际数字远高于此。SYNGAP1基因突变出乎意料地常见，据估计占所有智力障碍病例的1%至2%。

Early results for CAMP4's ASO therapy have been promising. A preclinical study involving primates found the treatment increased protein expression in the brain, and a mouse model showed improved seizure measures.

CAMP4的反义寡核苷酸（ASO）疗法的早期结果令人鼓舞。一项涉及灵长类动物的临床前研究发现，该治疗增加了大脑中的蛋白质表达，而小鼠模型则显示出癫痫发作指标的改善。

CNBC Cures' Becky Quick - whose daughter Kaylie

CNBC《Cures》节目的贝基·奎克（Becky Quick）——她的女儿凯莉（Kaylie）

was diagnosed

被诊断

with SYNGAP1 at age 2 - spoke with CAMP4's CEO, Josh Mandel-Brehm, and asked him about the trial's design and what it means for the thousands living with the devastating rare disease.

关于SYNGAP1基因相关疾病，在患者两岁时——我与CAMP4公司首席执行官乔什·曼德尔-布雷姆进行了交谈，并向他询问了该临床试验的设计方案，以及这对数千名罹患这种毁灭性罕见疾病的患者意味着什么。

CAMP4 CEO Josh Mandel-Brehm appearing in an interview with CNBC's Becky Quick.

CAMP4 首席执行官乔希·曼德尔-布雷姆接受 CNBC 记者贝基·奎克的采访。

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'Our treatment approach is meant to treat the underlying cause of Syngap1, as we've talked about, and put more protein, healthy protein, back in the system. We don't know exactly what to expect yet because nobody's ever done this before.'

“正如我们所讨论的，我们的治疗方法旨在解决 Syngap1 的根本病因，并向系统中补充更多的健康蛋白质。目前我们尚不完全清楚预期结果如何，因为此前从未有人进行过此类尝试。”

Mandel-Brehm said that while the ultimate hope is for a cure, researchers will use the study to measure any sign of improvement from trial participants. 'From speaking with parents and listening to their stories, success can be from one parent lowering seizures, from another just hearing your daughter or son speak to allowing your guard to go down for a moment, so your child doesn't lope into endanger.

曼德尔-布雷姆表示，虽然最终的希望是找到治愈方法，但研究人员将利用这项研究来衡量试验参与者出现的任何改善迹象。“通过与家长交谈并倾听他们的故事，我们了解到，成功的定义因人而异：对某些家长而言，成功意味着孩子的癫痫发作减少；对另一些家长而言，成功仅仅是听到女儿或儿子开口说话；还有的家长认为，成功是让他们能够片刻放松警惕，使孩子不至于陷入危险之中。”

It it's different for everybody.' Mandel-Brehm added, 'We're not going to set a definition for success because we're going to let the data guide us.'.

“这对每个人来说都是不同的。”曼德尔-布雷姆补充道：“我们不会为成功设定一个定义，因为我们将让数据来引导我们。”

We're not going to set a definition for success because we're going to let the data guide us.'

我们不会为成功设定定义，因为我们将让数据来引导我们。

Josh Mandel-Brehm

乔什·曼德尔-布雷姆

CAMP4 CEO

CAMP4 首席执行官

CAMP4, which also received approval from Argentinian regulators to initiate a trial in that country, hopes to include at least 30 SYNGAP1 patients across multiple locations. The initial trial is designed to treat children between 2-18 years old, though Mandel-Brehm says the strategy is to try and target younger patients first..

CAMP4也已获得阿根廷监管机构的批准，在该国启动一项临床试验，并希望在多个地点纳入至少30名SYNGAP1患者。初步试验旨在治疗2至18岁的儿童，尽管Mandel-Brehm表示，其策略是首先尝试针对更年轻的患者。

CAMP4's trial will deploy a double-blind model, in which half the participants receiving the ASO - a process that involves a lumbar puncture to inject the medication directly into the cerebrospinal fluid - will be given a placebo. Administering placebos in clinical trials involving rare disease patients is sometimes seen as a controversial practice within that community, where patients who desperately need therapies often have very few approved treatment options.

CAMP4 试验将采用双盲模型，其中一半接受反义寡核苷酸（ASO）治疗的参与者将被给予安慰剂；ASO 治疗涉及通过腰椎穿刺将药物直接注入脑脊液。在涉及罕见病患者的临床试验中，使用安慰剂有时在该社群内被视为一种有争议的做法，因为这些亟需治疗的患者往往几乎没有获批的治疗选择。

Advocacy groups have followed the issue particularly closely in the U.S., where regulators at the FDA have made headlines over their .

倡导团体在美国尤其密切关注这一问题，美国食品药品监督管理局（FDA）的监管人员因其相关举措而成为新闻焦点。

recent scrutiny

近期审查

of clinical trials in the rare disease space that did not include the use of placebos.

在罕见病领域未使用安慰剂的临床试验。

Mandel-Brehm said he believes using the double-blind approach will more quickly get regulators the data they need in order to approve the new ASO. 'Different regulatory agencies have different bars,' Mandel-Brehm said. 'Ultimately the goal is not just to show the drug works, it's to get it on the market to help patients.'.

曼德尔-布雷姆表示，他认为采用双盲方法能够更快地向监管机构提供审批新型反义寡核苷酸（ASO）所需的数据。“不同的监管机构有不同的标准，”曼德尔-布雷姆说，“最终目标不仅仅是证明药物有效，而是使其上市以惠及患者。”

Ultimately the goal is not just to show the drug works, it's to get it on the market to help patients.'

“最终目标不仅仅是证明药物有效，而是将其推向市场以帮助患者。”

Josh Mandel-Brehm

乔什·曼德尔-布雷姆

CAMP4 CEO

CAMP4 首席执行官

He added that the trial is being designed so that patients receiving a placebo will be able to transition over to the drug if early results indicate a positive result from the therapy.

他补充说，该试验的设计方案是，如果早期结果显示该疗法具有积极效果，接受安慰剂的患者可以转而使用该药物。

'We're not asking patients to only get a control and nothing else,' Mandel-Brehm said. 'There's a balancing act here because we also want to do something ethically correct for these patients that are agreeing to enter the study.'

“我们并不是要求患者只接受对照治疗而不接受其他任何治疗，”曼德尔-布雷姆说。“这里需要权衡，因为我们也希望为那些同意参与研究的患者在伦理上做出正确的安排。”

While CAMP4 has not announced plans to initiate a trial in the U.S., Mandel-Brehm said his company is currently planning on having those conversations with U.S. regulators. The company plans to initiate the trial in the fourth quarter and treat patients throughout 2027.

尽管CAMP4尚未宣布在美国启动临床试验的计划，但Mandel-Brehm表示，他的公司目前正计划与美国监管机构进行相关沟通。该公司计划在第四季度启动试验，并在2027年全年对患者进行治疗。

Mandel-Brehm said more details will be announced at CAMP4's investor relations day on Monday, September 28.

曼德尔-布雷姆表示，更多细节将在9月28日星期一举行的CAMP4投资者关系日上公布。

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