A Phase 2, Open-Label, Fixed Dose Study to Evaluate the Use of Sodium Phenylbutyrate (ACER-001) in the Treatment of Pediatric and Adult Patients With MCAD Deficiency Caused by the Common ACADM c.985 A>G (K304E) Mutation

This is a medical research study to test a medication in patients 10 years of age and older with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by the common ACADM c.985 A>G (K304E) mutation. The medication is sodium phenylbutyrate (ACER-001), which is currently FDA approved for the treatment of Urea Cyle Disorders. Previous research suggests that sodium phenylbutyrate may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of sodium phenylbutyrate in patients with MCADD.

开始日期2024-04-01

申办/合作机构

Acer Therapeutics, Inc.

NCT05836350 / Not yet recruiting临床4期IIT

Targeting Branched-chain Amino Acid Oxidation to Improve Glycaemic Control in Patients With Type 2 Diabetes

This clinical trial study aims to evaluate the effects of prolonged NaPB treatment in a maximum of 20 patients with T2D. The primary objective is:
to investigate if prolonged boosting of ing BCAA oxidation will substantially lower plasma glucose levels in patients with T2D.
Participants will undergo a Clinical randomized controlled trial (RCT) with a double-blinded, placebo-controlled, cross-over design, including a wash-out period of 12 weeks. The trial will contain 2 treatment arms, with each a duration of 12 weeks.
Participants will have a 12-week oral administration of 4.8 g/m2/day NaPB (in the form of Pheburane) or placebo per day. Although depending on body surface area,
21 g Pheburane needs to be administered spread over the day 3 times taken with a meal.

开始日期2023-06-01

申办/合作机构

Maastricht University

NCT05676034 / Active, not recruiting临床2期

A Phase II Study of Safety and Efficacy of AMX0035 in Adult Patients With Wolfram Syndrome

This study is an open label Phase II study to evaluate the safety and efficacy of AMX0035 in adults with Wolfram syndrome.

开始日期2023-03-03

申办/合作机构

Amylyx Pharmaceuticals, Inc.

100 项与苯基丁酸钠相关的临床结果

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100 项与苯基丁酸钠相关的转化医学

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100 项与苯基丁酸钠相关的专利（医药）

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296

项与苯基丁酸钠相关的文献（医药）

2024-02-01·The Annals of pharmacotherapy

Sodium Phenylbutyrate and Taurursodiol: A New Therapeutic Option for the Treatment of Amyotrophic Lateral Sclerosis

Review

作者: Cates, Drew W. ; Patel, Katie A. ; Render, Kandon P. ; Alqallaf, Ali

Objective::

To review the safety and efficacy of sodium phenylbutyrate and taurursodiol (SP + T) in slowing progression of amyotrophic lateral sclerosis (ALS) compared with pre-existing therapies.

Data Sources::

A PubMed (from January 1, 2009, to April 13, 2023) and ClinicalTrials.gov search conducted using sodium phenylbutyrate, taurursodiol, AMX0035, riluzole, and edaravone. Additional articles were identified by hand from references.

Data Selection and Data Extraction::

This included English-language articles evaluating SP + T efficacy or safety in humans for decreasing neuronal death and slowing the progression of ALS.

Data Synthesis::

In one phase II clinical trial that encompassed an open-label extension phase, disease severity, assessed by the rate of decline in overall score on the Amyotrophic Lateral Sclerosis Functional Rating Scale–Revised with higher scores indicating more functional ability, was –1.24 points per month with active drug and –1.66 points per month with placebo (difference, 0.42 points per month; 95% CI, 0.03-0.81; P = 0.03). Post hoc analysis found survival benefit of median 4.8 months with active medication compared with placebo.

Relevance to Patient Care and Clinical Practice in Comparison With Existing Drugs::

SP + T is a new US Food and Drug Administration–approved oral suspension for the treatment of ALS. Patients who received active medication through the phase II trial showed decreased rates of disease progression. Overall, SP + T could be considered a potential agent for the treatment of ALS which has a high unmet need.

Conclusion::

SP + T is an option for the treatment of ALS; however, additional data regarding efficacy in phase III trials with long-term safety profile considerations, as well as trials to compare current therapy with SP + T, are needed.

2023-12-01·Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences

Treatment and management for children with urea cycle disorder in chronic stage

Article

作者: Huang, Xinwen

Urea cycle disorder (UCD) is a group of inherited metabolic diseases with high disability or fatality rate, which need long-term drug treatment and diet management. Except those with Citrin deficiency or liver transplantation, all pediatric patients require lifelong low protein diet with safe levels of protein intake and adequate energy and lipids supply for their corresponding age; supplementing essential amino acids and protein-free milk are also needed if necessary. The drugs for long-term use include nitrogen scavengers (sodium benzoate, sodium phenylbutyrate, glycerol phenylbutyrate), urea cycle activation/substrate supplementation agents (N-carbamylglutamate, arginine, citrulline), etc. Liver transplantation is recommended for pediatric patients not responding to standard diet and drug treatment, and those with severe progressive liver disease and/or recurrent metabolic decompensations. Gene therapy, stem cell therapy, enzyme therapy and other novel technologies may offer options for treatment in UCD patients. The regular biochemical assessments like blood ammonia, liver function and plasma amino acid profile are needed, and physical growth, intellectual development, nutritional intake should be also evaluated for adjusting treatment in time.

2023-12-01·Annals of clinical and translational neurology

Analysis of sodium phenylbutyrate and taurursodiol survival effect in ALS using external controls

Article

作者: Timmons, Jamie ; Sherman, Alexander V ; Wu, Yuehui ; Cudkowicz, Merit ; Vestrucci, Matteo ; Quintana, Melanie ; Paganoni, Sabrina

Abstract:

Objective:

Sodium phenylbutyrate and taurursodiol (PB and TURSO) was evaluated in amyotrophic lateral sclerosis (ALS) in the CENTAUR trial encompassing randomized placebo‐controlled and open‐label extension phases. On intent‐to‐treat (ITT) survival analysis, median overall survival (OS) was 4.8 months longer and risk of death 36% lower in those originally randomized to an initial 6‐month double‐blind period of PB and TURSO versus placebo. To estimate PB and TURSO treatment effect without placebo‐to‐active crossover, we performed a post hoc survival analysis comparing PB and TURSO‐randomized participants from CENTAUR and a propensity score–matched, PB and TURSO‐naïve external control cohort from the Pooled Resource Open‐Access ALS Clinical Trials (PRO‐ACT) database.

Methods:

Clinical trial control participants from the PRO‐ACT database who met prespecified eligibility criteria were propensity score matched 1:1 with PB and TURSO‐randomized CENTAUR participants using prognostically significant covariates in ALS.

Results:

Baseline characteristics including propensity score–matched covariates were generally well balanced between CENTAUR PB and TURSO (n = 89) and PRO‐ACT external control (n = 85) groups. Estimated median (IQR) OS was 23.54 (14.56–39.32) months in the CENTAUR PB and TURSO group and 13.15 (9.83–19.20) months in the PRO‐ACT external control group; hazard of death was 52% lower in the former group (hazard ratio, 0.48; 95% CI, 0.31–0.72; p = 0.00048).

Interpretation:

This analysis suggests potentially greater survival benefit with PB and TURSO in ALS without placebo‐to‐active crossover than seen on ITT analysis in CENTAUR. Analyses using well‐matched external controls may provide additional context for evaluating survival effects in future ALS trials.

278

项与苯基丁酸钠相关的新闻（医药）

2024-06-18

·GlobeNewswire-Health Care

Zevra Therapeutics Transitions to Orsini as the Specialty Pharmacy Provider for OLPRUVA® (sodium phenylbutyrate), a Treatment for Certain Urea Cycle Disorders

CELEBRATION, Fla. and ELK GROVE VILLAGE, Ill., June 18, 2024 (GLOBE NEWSWIRE) -- Orsini Specialty Pharmacy (Orsini), and Zevra Therapeutics, Inc. (NasdaqGS: ZVRA) (Zevra) today announced that Orsini is now the pharmacy partner for OLPRUVA® (sodium phenylbutyrate) for oral suspension. OLPRUVA® is a prescription medicine used along with certain therapies, including changes in diet, for long-term management of certain adult and pediatric patients with urea cycle disorders (UCDs) involving deficiencies of carbamylphosphate synthetase (CPS), ornithine transcarbamylase (OTC) or argininosuccinic acid synthetase (AS). Visit OLPRUVA-Prescribing-Information.pdf (olpruva.com) to view the full Prescribing Information, including Important Safety Information. UCDs are rare genetic disorders that impair the body's ability to remove excess ammonia. People living with UCDs often suffer from ammonia buildup in the blood, potentially resulting in brain damage and neurocognitive impairments, coma and even death, if untreated. OLPRUVA is a nitrogen scavenger that removes excess ammonia. “Those living with UCDs can face tremendous long-term challenges including developmental delay and neurocognitive impairment, and we are committed to ensuring that they have access to OLPRUVA,” said Joshua Schafer, Zevra’s Chief Commercial Officer. “Orsini is built to serve rare disease communities, and we’re excited to partner with Zevra to connect UCD patients with this important treatment option,” said Brandon Tom, Orsini’s Chief Executive Officer. About Urea Cycle DisordersUCDs are a group of rare, genetic disorders that can cause harmful ammonia to build up in the blood, potentially resulting in brain damage and neurocognitive impairments if ammonia levels are not controlled. Any increase in ammonia over time is serious. Therefore, it is important to adhere to any dietary protein restrictions and have alternative medication options to help control ammonia levels. About OLPRUVA®OLPRUVA (sodium phenylbutyrate) was approved for the treatment of certain UCDs in December 2022 and is marketed under the brand name, OLPRUVA®. OLPRUVA (sodium phenylbutyrate) for oral suspension is a prescription medicine used along with certain therapies, including changes in diet, for the long-term management of adults and children weighing 44 pounds (20 kg) or greater and with a body surface area (BSA) of 1.2 m2 or greater, with UCDs, involving deficiencies of carbamylphosphate synthetase (CPS), ornithine transcarbamylase (OTC), or argininosuccinic acid synthetase (AS). OLPRUVA is not used to treat rapid increase of ammonia in the blood (acute hyperammonemia), which can be life-threatening and requires emergency medical treatment. For more information, please visit www.OLPRUVA.com. Important Safety Information Certain medicines may increase the level of ammonia in your blood or cause serious side effects when taken during treatment with OLPRUVA. Tell your doctor about all the medicines you or your child take, especially if you or your child take corticosteroids, valproic acid, haloperidol, and/or probenecid. OLPRUVA can cause serious side effects, including: 1) nervous system problems (neurotoxicity). Symptoms include sleepiness, tiredness, lightheadedness, vomiting, nausea, headache, confusion, 2) low potassium levels in your blood (hypokalemia) and 3) conditions related to swelling (edema). OLPRUVA contains salt (sodium), which can cause swelling from salt and water retention. Tell your doctor right away if you or your child get any of these symptoms. Your doctor may do certain blood tests to check for side effects during treatment with OLPRUVA. If you have certain medical conditions such as heart, liver or kidney problems, are pregnant/planning to get pregnant or breast-feeding, your doctor will decide if OLPRUVA is right for you. The most common side effects of OLPRUVA include absent or irregular menstrual periods, decreased appetite, body odor, bad taste or avoiding foods you ate prior to getting sick (taste aversion). These are not all of the possible side effects of OLPRUVA. Call your doctor for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088. Ah Mew N, et al. Urea cycle disorders overview [updated June 22, 2017]. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. University of Washington; 1993-2022. Accessed March 20, 2022. About OrsiniProviding patients with comprehensive and compassionate care since 1987, Orsini is a leader in rare diseases and gene therapies. Orsini partners with biopharma innovators, healthcare providers and payors to support patients and their families in accessing revolutionary treatments for rare diseases. Through integrated rare disease pharmacy solutions including pharmacy distribution, patient services, clinical management and convenient home infusion services, Orsini simplifies how patients connect to advanced therapies. Orsini’s high-touch care model centers on experienced and trained therapy care teams that provide personalized patient care to ensure that No Patient is Left Behind™. Orsini Specialty Pharmacy holds accreditations with the Accreditation Commission for Health Care (ACHC), The Joint Commission, URAC and NABP. Orsini has earned URAC’s Rare Disease Pharmacy Center of Excellence Designation and ACHC's Distinction in Rare Diseases and Orphan Drugs. For more information, contact Orsini at 847-734-7373 ext. 505, email us at media@orsinihc.com, or visit www.orsinispecialtypharmacy.com. About Zevra TherapeuticsZevra Therapeutics is a rare disease company combining science, data, and patient needs to create transformational therapies for diseases with limited or no treatment options. Our mission is to bring life-changing therapeutics to people living with rare diseases. With unique, data-driven development and commercialization strategies, the Company is overcoming complex drug development challenges to make new therapies available to the rare disease community. Expanded access programs are made available by Zevra Therapeutics and its affiliates and are subject to the Company's Expanded Access Program (EAP) policy as published on its website. Participation in these programs is subject to the laws and regulations of each jurisdiction under which each respective program is operated. Eligibility for participation in any such program is at the treating physician's discretion. For more information, please visit www.zevra.com or follow us on X (formerly Twitter) and LinkedIn. Cautionary Note Concerning Forward-Looking Statements This press release may contain forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Forward-looking statements include all statements that do not relate solely to historical or current facts, including without limitation statements regarding the promise and potential impact of our preclinical or clinical trial data, the initiation, timing, design, or results of any clinical trials or readouts, the potential benefits of any of our products or product candidates for any specific disease indication or at any dosage. Forward-looking statements are based on information currently available to Zevra and its current plans or expectations. They are subject to several known and unknown uncertainties, risks, and other important factors that may cause our actual results, performance, or achievements to be materially different from any future results, performance, or achievements expressed or implied by the forward-looking statements. These and other important factors are described in detail in the "Risk Factors" section of Zevra’s Annual Report on Form 10-K for the year ended December 31, 2023, Zevra’s quarterly report for the three months ended March 31, 2024, and Zevra’s other filings with the Securities and Exchange Commission. While we may elect to update such forward-looking statements at some point in the future, except as required by law, we disclaim any obligation to do so, even if subsequent events cause our views to change. Although we believe the expectations reflected in such forward-looking statements are reasonable, we cannot assure that such expectations will prove correct. These forward-looking statements should not be relied upon as representing our views as of any date after the date of this press release. Zevra Contact Nichol Ochsner +1 (732) 754-2545 nochsner@zevra.com Russo Partners Contacts Adanna G. Alexander, Ph.D. +1 (646) 942-5603 adanna.alexander@russopartnersllc.com Ignacio Guerrero-Ros, Ph.D. +1 (646) 942-5604 ignacio.guerrero-ros@russopartnersllc.com

上市批准孤儿药

2024-06-16

·赛柏蓝

2024医保目录调整启动，42个品种剑指新国谈

编者按：本文来自米内网，作者苍穹；赛柏蓝授权转载，编辑凯西 6月已至，2024国谈进入筹备阶段，人福、鲁南......42款罕见病药蓄势待发。 01 利好政策驱动创新研发千亿罕见病药市场在酝酿在临床用药需求推动下，罕见病药物市场持续升温。有业内专业机构指出，中国罕见病药市场于2016年及2020年分别占全球罕见病市场的0.4%及1%，预计2030年将激增至259亿美元，约合1878亿元（按实时汇率换算），市场潜力十足。然而，由于罕见病确诊难、病情复杂多样、患病人数少、治疗药物供应短缺，其新药临床试验研究的设计和实施面临着重重困难与挑战。对此，就在今年5月，CDE接连发布两份重磅文件——《以患者为中心的罕见疾病药物研发试点工作计划（“关爱计划”）征求意见稿》以及《在罕见疾病药物临床研发中应用去中心化临床试验的技术指导原则》（下文统称《文件》）。来源：CDE官网《文件》内容主要明确两点：一是落实“以患者为中心”理念的试点工作，提升“将患者体验数据整合入罕见病药物临床研发”的科学性、规范性及合理性，增强监管机构、药物研发单位和患者等专注于罕见病药物研发的各方沟通与协作，进而推动罕见病药物研发和上市；二是指导开展在传统临床试验中心以外地点通过远程医疗和移动/本地医疗来执行部分或全部试验相关活动的临床试验（即：去中心化临床试验，DCT），增加受试者的代表性和多样性，为罕见病药物临床试验提供更加灵活、可及的新方法、新路径等。在此之前，为进一步鼓励药企加大对罕见病药的研发和生产，国家近年来已相继出台了一系列激励政策。如《第一批罕见病目录》的发布，共涉及121种罕见病，为各部门制定罕见病相关政策提供重要依据；《中华人民共和国药品管理法实施条例（修订草案征求意见稿）》中指出，对批准上市的罕见病新药，给予最长不超过7年的市场独占期，期间不再批准相同品种上市......近年来国家发布的部分鼓励罕见病药研发和生产的相关政策来源：国家卫健委、国家药监局等 02 20款罕见病药加速上市石药、石四药......优势十足系列利好政策的驱动下，药物注册审评审批、研发和生产流程得到不断优化，多款罕见病新药加速面世。据国家药监局发布的《2023年度药品审评报告》及公开资料显示，2023年至今共有52款罕见病药（不含化药4类罕见病药）获批上市，获批产品涵盖血液、神经、代谢、免疫、罕见肿瘤等多个治疗领域，包括首个用于Ⅰ型神经纤维瘤病（NF1）相关丛状神经纤维瘤（PN）治疗药硫酸氢司美替尼胶囊，首个治疗N-乙酰谷氨酸合成酶缺乏症（NAGSD）、丙酸血症（PA）引起的高氨血症药物卡谷氨酸分散片等。从审评审批路径上看，共有20个品种通过优先审评审批程序得以加快上市，覆盖酪氨酸血症、结节性硬化症、血友病等14个收录于《第一批罕见病目录》的疾病病种，以及神经纤维瘤、骨巨细胞瘤、泛发性脓疱型银屑病3个收录于《第二批罕见病目录》的疾病病种。2023年至今通过优先审评审批获批的罕见病药来源：国家药监局官网其中，纳鲁索拜单抗注射液为石药集团的1类创新药，是全球首个IgG4 RANKL抑制剂，用于治疗不可手术切除或手术切除可能导致严重功能障碍的骨巨细胞瘤。与原有治疗药（地舒单抗）开展头对头研究显示，纳鲁索拜单抗具有显著临床优势，2023年在中国三大终端六大市场地舒单抗合计销售额超过13亿元。近年来中国三大终端六大市场地舒单抗销售趋势（单位：万元）来源：米内网格局数据库司替戊醇干混悬剂为儿童罕见病用药，用于治疗婴儿严重肌阵挛性癫痫（Dravet综合征）。石家庄四药在2022年4月首家提交3类仿制上市申请，并于2023年7月获批国内首仿+首家过评。该产品的到来，将为Dravet综合征患儿带来新的用药选择。尼替西农胶囊、尼替西农口服混悬液和阿那白滞素注射液同为苏庇医药开发的儿童罕见病新药，其中，尼替西农是目前全球唯一一款适用于儿童/成人Ⅰ型酪氨酸血症的药物；阿那白滞素是一种白细胞介素1（IL-1）受体拮抗剂，用于儿童/成人自身炎症性周期性发热综合征（家族性地中海热）。随着越来越多罕见病新药的加速面世，一些“无药可治”的罕见病患者，或能在与时间的生死赛跑中等来“救命良药”，甚至更优的治疗选择。 03 42款罕见病药剑指新国谈人福、鲁南......蓄势待发为进一步提高患者的用药可及性，加快推进罕见病药准入医保已然成为国家的重要任务之一。6月13日，国家医保局发布《2024年国家基本医疗保险、工伤保险和生育保险药品目录调整工作方案（征求意见稿）》（下文简称《意见稿》），标志着新一轮医保药品目录调整工作提上日程。来源：国家医保局官网据不完全统计，目前至少有42款罕见病药有望参与2024年国谈，其中用于黏多糖贮积症、多发性硬化症、戈谢病、高氨血症等罕见病的治疗药较多；剂型上以注射剂、片剂为主，分别占24个和8个。从治疗大类看，抗肿瘤和免疫调节剂、消化系统及代谢药、神经系统药物均占据9个及以上的席位。上述品类2023年在中国三大终端六大市场合计销售规模分别超过2200亿元、2100亿元和1000亿元。部分有机会参与2024年国谈的罕见病药注：带*为独家品种；来源：米内网中国申报进度（MED）数据库42个有望参与新一轮国谈的罕见病药中，独家品种有39个，占比超过九成，包括人福药业的氯巴占片（Lennox-Gastaut综合征）、鲁南制药的盐酸沙丙蝶呤片（高苯丙氨酸血症）、石家庄四药的司替戊醇干混悬剂（Dravet综合征）、兆科药业的苯丁酸钠颗粒（尿素循环障碍）、万邦德制药的石杉碱甲注射液（重症肌无力）等；此外，还有武田药品的注射用替度格鲁肽（短肠综合征）和注射用舒索凝血素α（血友病）、罗氏的可伐利单抗注射液（阵发性睡眠性血红蛋白尿）、Nobelpharma的醋酸锌片（肝豆状核变性）、诺华的盐酸伊普可泮胶囊（阵发性睡眠性血红蛋白尿）等今年获批的罕见病新药。夏日炎炎，六月已至。根据《意见稿》的国谈工作程序（5-6月：准备阶段；7-8月：申报阶段；8-9月：专家审评阶段；9-11月：谈判/竞价阶段；11月：医保目录公布），2024年国谈已进入新一轮筹备阶段。届时，哪些品种能成功入选，我们拭目以待！来源：米内网数据库、国家药监局官网等 END 内容沟通：13810174402 医药代表交流群扫描下方二维码加入银发经济市场机遇交流群扫描下方二维码加入左下角「关注账号」，右下角「在看」，防止失联

上市批准申请上市医药出海

2024-06-16

·米内网

罕见病药市场冲刺1800亿！20款新品加速上市，42个品种剑指新国谈，人福、鲁南蓄势待发

精彩内容为解决罕见病药研发难点和痛点，近年来国家频频出台利好政策，以推动罕见病新药研发和市场准入。据不完全统计，2023年至今已有52款罕见病药获批上市，其中20款通过优先审评审批程序得以加快获批，包括石药集团的罕见肿瘤治疗药纳鲁索拜单抗注射液、石四药的婴幼儿抗癫痫明星药司替戊醇干混悬剂等。6月已至，2024国谈进入筹备阶段，人福、鲁南......42款罕见病药蓄势待发，最终医保准入情况如何，我们拭目以待。利好政策驱动创新研发，千亿罕见病药市场在酝酿在临床用药需求推动下，罕见病药物市场持续升温。有业内专业机构指出，中国罕见病药市场于2016年及2020年分别占全球罕见病市场的0.4%及1%，预计2030年将激增至259亿美元，约合1878亿元（按实时汇率换算），市场潜力十足。然而，由于罕见病确诊难、病情复杂多样、患病人数少、治疗药物供应短缺，其新药临床试验研究的设计和实施面临着重重困难与挑战。对此，就在今年5月，CDE接连发布两份重磅文件——《以患者为中心的罕见疾病药物研发试点工作计划（“关爱计划”）征求意见稿》以及《在罕见疾病药物临床研发中应用去中心化临床试验的技术指导原则》（下文统称《文件》）。来源：CDE官网《文件》内容主要明确两点：一是落实“以患者为中心”理念的试点工作，提升“将患者体验数据整合入罕见病药物临床研发”的科学性、规范性及合理性，增强监管机构、药物研发单位和患者等专注于罕见病药物研发的各方沟通与协作，进而推动罕见病药物研发和上市；二是指导开展在传统临床试验中心以外地点通过远程医疗和移动/本地医疗来执行部分或全部试验相关活动的临床试验（即：去中心化临床试验，DCT），增加受试者的代表性和多样性，为罕见病药物临床试验提供更加灵活、可及的新方法、新路径等。在此之前，为进一步鼓励药企加大对罕见病药的研发和生产，国家近年来已相继出台了一系列激励政策。如《第一批罕见病目录》的发布，共涉及121种罕见病，为各部门制定罕见病相关政策提供重要依据；《中华人民共和国药品管理法实施条例（修订草案征求意见稿）》中指出，对批准上市的罕见病新药，给予最长不超过7年的市场独占期，期间不再批准相同品种上市......近年来国家发布的部分鼓励罕见病药研发和生产的相关政策来源：国家卫健委、国家药监局等，米内网整理 20款罕见病药加速上市，石药、石四药......优势十足系列利好政策的驱动下，药物注册审评审批、研发和生产流程得到不断优化，多款罕见病新药加速面世。据国家药监局发布的《2023年度药品审评报告》及公开资料显示，2023年至今共有52款罕见病药（不含化药4类罕见病药）获批上市，获批产品涵盖血液、神经、代谢、免疫、罕见肿瘤等多个治疗领域，包括首个用于Ⅰ型神经纤维瘤病（NF1）相关丛状神经纤维瘤（PN）治疗药硫酸氢司美替尼胶囊，首个治疗N-乙酰谷氨酸合成酶缺乏症（NAGSD）、丙酸血症（PA）引起的高氨血症药物卡谷氨酸分散片等。从审评审批路径上看，共有20个品种通过优先审评审批程序得以加快上市，覆盖酪氨酸血症、结节性硬化症、血友病等14个收录于《第一批罕见病目录》的疾病病种，以及神经纤维瘤、骨巨细胞瘤、泛发性脓疱型银屑病3个收录于《第二批罕见病目录》的疾病病种。2023年至今通过优先审评审批获批的罕见病药来源：国家药监局官网，米内网整理其中，纳鲁索拜单抗注射液为石药集团的1类创新药，是全球首个IgG4 RANKL抑制剂，用于治疗不可手术切除或手术切除可能导致严重功能障碍的骨巨细胞瘤。与原有治疗药（地舒单抗）开展头对头研究显示，纳鲁索拜单抗具有显著临床优势，米内网数据显示，2023年在中国三大终端六大市场（统计范围详见本文末）地舒单抗合计销售额超过13亿元。近年来中国三大终端六大市场地舒单抗销售趋势（单位：万元）来源：米内网格局数据库司替戊醇干混悬剂为儿童罕见病用药，用于治疗婴儿严重肌阵挛性癫痫（Dravet综合征）。石家庄四药在2022年4月首家提交3类仿制上市申请，并于2023年7月获批国内首仿+首家过评。该产品的到来，将为Dravet综合征患儿带来了新的用药选择。尼替西农胶囊、尼替西农口服混悬液和阿那白滞素注射液同为苏庇医药开发的儿童罕见病新药，其中，尼替西农是目前全球唯一一款适用于儿童/成人Ⅰ型酪氨酸血症的药物；阿那白滞素是一种白细胞介素1（IL-1）受体拮抗剂，用于儿童/成人自身炎症性周期性发热综合征（家族性地中海热）。随着越来越多罕见病新药的加速面世，一些“无药可治”的罕见病患者，或能在与时间的生死赛跑中等来“救命良药”，甚至更优的治疗选择。 42款罕见病药剑指新国谈，人福、鲁南......蓄势待发为进一步提高患者的用药可及性，加快推进罕见病药准入医保已然成为国家的重要任务之一。6月13日，国家医保局正式发布《2024年国家基本医疗保险、工伤保险和生育保险药品目录调整工作方案（征求意见稿）》（下文简称《意见稿》），标志着新一轮医保药品目录调整工作提上日程。来源：国家医保局官网据不完全统计，目前至少有42款罕见病药有望参与2024年国谈，其中用于黏多糖贮积症、多发性硬化症、戈谢病、高氨血症等罕见病的治疗药较多；剂型上以注射剂、片剂为主，分别占24个和8个。从治疗大类看，抗肿瘤和免疫调节剂、消化系统及代谢药、神经系统药物均占据9个及以上的席位。米内网数据显示，上述品类2023年在中国三大终端六大市场合计销售规模分别超过2200亿元、2100亿元和1000亿元。部分有机会参与2024年国谈的罕见病药注：带*为独家品种来源：米内网中国申报进度（MED）数据库42个有望参与新一轮国谈的罕见病药中，独家品种有39个，占比超过九成，包括人福药业的氯巴占片（Lennox-Gastaut综合征）、鲁南制药的盐酸沙丙蝶呤片（高苯丙氨酸血症）、石家庄四药的司替戊醇干混悬剂（Dravet综合征）、兆科药业的苯丁酸钠颗粒（尿素循环障碍）、万邦德制药的石杉碱甲注射液（重症肌无力）等；此外，还有武田药品的注射用替度格鲁肽（短肠综合征）和注射用舒索凝血素α（血友病）、罗氏的可伐利单抗注射液（阵发性睡眠性血红蛋白尿）、Nobelpharma的醋酸锌片（肝豆状核变性）、诺华的盐酸伊普可泮胶囊（阵发性睡眠性血红蛋白尿）等今年获批的罕见病新药。夏日炎炎，六月已至。根据《意见稿》的国谈工作程序（5-6月：准备阶段；7-8月：申报阶段；8-9月：专家审评阶段；9-11月：谈判/竞价阶段；11月：医保目录公布），2024年国谈已进入新一轮筹备阶段。届时，哪些品种能成功入选，我们拭目以待！来源：米内网数据库、国家药监局官网等注：米内网《中国三大终端六大市场药品竞争格局》，统计范围是：城市公立医院和县级公立医院、城市社区中心和乡镇卫生院、城市实体药店和网上药店，不含民营医院、私人诊所、村卫生室，不含县乡村药店；上述销售额以产品在终端的平均零售价计算。数据统计截至6月14日，如有疏漏，欢迎指正！本文为原创稿件，转载请注明来源和作者，否则将追究侵权责任。投稿及报料请发邮件到872470254@qq.com稿件要求详询米内微信首页菜单栏商务及内容合作可联系QQ：412539092 【分享、点赞、在看】点一点不失联哦

优先审批上市批准申请上市

100 项与苯基丁酸钠相关的药物交易

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外链

KEGG	Wiki	ATC	Drug Bank
D05868	苯基丁酸钠	A16AX03	-

研发状态

批准上市

10 条最早获批的记录,

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适应症	国家/地区	公司	日期
瓜氨酸血症	加拿大	Médunik Canada, Inc.	2015-03-30
尿素循环障碍	美国	Horizon Therapeutics USA, Inc.	1996-04-30

未上市

10 条进展最快的记录,

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适应症	最高研发状态	国家/地区	公司	日期
肾脏疾病	临床3期	法国	Assistance Publique des Hôpitaux de Paris SA	2015-02-01
蛋白尿	临床3期	法国	Assistance Publique des Hôpitaux de Paris SA	2015-02-01
中链酰基辅酶A脱氢酶缺乏症	临床2期	美国	Acer Therapeutics, Inc.	2024-04-01
枫糖尿病	临床2期	美国	Acer Therapeutics, Inc.	2017-09-19

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临床结果

适应症

分期

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研究	分期	人群特征	评价人数	分组	结果	评价	发布日期


CENTAUR (AAN2023)	N/A	肌萎缩侧索硬化	-	Sodium Phenylbutyrate and Taurursodiol	衊鹹齋顧餘繭選製衊鏇(艱餘夢艱壓窪構醖夢遞) = 壓膚膚糧醖壓築淵餘膚壓鬱衊鹹糧廠製衊鑰獵 (網糧鏇遞醖鏇願獵廠醖 )	-	2023-04-25
				Placebo	衊鹹齋顧餘繭選製衊鏇(艱餘夢艱壓窪構醖夢遞) = 醖蓋艱獵願選鹽製壓觸壓鬱衊鹹糧廠製衊鑰獵 (網糧鏇遞醖鏇願獵廠醖 )
SSIEM2022	N/A	homozygous p.L483P mutation	-	Phenylbutyrate	鑰製廠淵遞選襯壓窪襯(壓鹽鏇餘遞觸齋鹹襯願) = 願繭襯選鑰繭構構壓選窪製鹹廠淵窪壓鏇遞鏇 (顧顧鑰鏇齋願淵醖夢簾 )	-	2022-08-30
				Ursodeoxycholic acid	鑰製廠淵遞選襯壓窪襯(壓鹽鏇餘遞觸齋鹹襯願) = 襯憲餘構選窪鏇獵憲壓窪製鹹廠淵窪壓鏇遞鏇 (顧顧鑰鏇齋願淵醖夢簾 )
AAN2022	临床2期	阿尔茨海默症 \| 肌萎缩侧索硬化	-	Sodium Phenylbutyrate/Taurursodiol coformulation	願衊鏇齋餘鏇鏇窪衊淵(鹽觸齋鬱鹽夢膚遞鹽襯) = were more frequent during initial PB/TURSO exposure (week ≤3) in CENTAUR and accounted for the predominance of PB/TURSO-related TEAEs in PEGASUS 壓淵壓餘製構醖鏇獵餘 (鹽構廠齋淵網製艱簾窪 )	-	2022-05-03
				Placebo
NCT01529060 (CTgov)	临床2/3期	枫糖尿病	20	Phenylbutyrate (Phenylbutyrate)	製艱窪構憲繭膚壓壓鹹(餘醖範膚醖觸獵積窪築) = 壓鑰鬱積衊鬱觸鑰製齋膚窪醖製夢淵鹹築顧廠 (鏇網艱膚廠膚壓襯築製, 網選廠蓋鹽遞觸淵淵鬱 ~ 顧襯簾遞簾遞簾窪築夢) 更多	-	2019-03-06
				Placebo powder (Inactive Powder)	積廠鬱鹽衊艱壓簾衊窪(壓網繭憲餘鏇憲簾蓋壓) = 構齋艱簾築艱構鏇網獵鏇遞範築壓選積遞鹽鹽 (網簾衊構願網齋獵願網, 鬱積廠鹽願構襯製構選 ~ 憲鹽夢選積糧醖齋鹽糧) 更多
NCT00771901 (CTgov)	N/A	肥胖 \| 胰岛素抵抗 \| 糖尿病	101	placebo (Placebo)	淵淵網願築繭蓋齋鑰壓(膚淵淵餘壓窪餘鏇淵衊) = 憲顧蓋艱觸製鏇醖夢構窪積廠積繭窪襯製糧獵 (網衊膚廠餘糧衊願鏇選, 憲憲醖襯夢範齋遞範繭 ~ 遞夢築齋衊膚餘衊築鹽) 更多	-	2018-05-29
				tauroursodeoxycholic acid (Tauroursodeoxycholic Acid)	淵淵網願築繭蓋齋鑰壓(膚淵淵餘壓窪餘鏇淵衊) = 艱襯襯窪觸獵糧襯鹽膚窪積廠積繭窪襯製糧獵 (網衊膚廠餘糧衊願鏇選, 壓觸壓繭鑰壓餘憲餘襯 ~ 窪壓鏇範鏇網網範築淵) 更多
NCT02111200 (CTgov)	N/A	尿素循环障碍	7	Sodium Benzoate (Sodium Benzoate Arm)	壓顧製糧廠鏇醖膚齋醖(範築糧醖簾願夢範壓繭) = 夢醖鬱糧齋餘蓋選窪顧遞顧糧積鬱淵鹽淵夢夢 (窪鹽淵艱願簾構醖願衊, 顧淵艱範繭鏇選範繭製 ~ 積觸觸鏇壓築襯窪製蓋) 更多	-	2017-12-08
				Sodium Phenylbutyrate (Sodium Phenylbutyrate Arm)	壓顧製糧廠鏇醖膚齋醖(範築糧醖簾願夢範壓繭) = 簾淵範壓蓋蓋網範糧鬱遞顧糧積鬱淵鹽淵夢夢 (窪鹽淵艱願簾構醖願衊, 積網膚糧鏇壓鑰繭鏇築 ~ 膚衊築鏇築艱襯鏇餘醖) 更多
NCT00551200 (CTgov)	临床2期	尿素循环障碍	14	NaPBA+HPN-100 (NaPBA Steady State)	憲觸網齋製膚願淵範醖(襯餘窪繭顧構簾餘繭憲) = 夢繭餘構膚廠衊網廠衊網簾餘積繭築襯繭網壓 (鹽鑰積襯鬱衊壓顧糧淵, 積淵選齋鬱餘積繭膚衊 ~ 廠蓋製網淵壓觸淵艱築) 更多	-	2015-05-12
				HPN-100 (HPN-100 Steady State)	憲觸網齋製膚願淵範醖(襯餘窪繭顧構簾餘繭憲) = 鏇築範顧觸艱簾獵鏇夢網簾餘積繭築襯繭網壓 (鹽鑰積襯鬱衊壓顧糧淵, 齋觸範顧齋壓廠鏇餘鏇 ~ 獵獵餘襯範繭鹹簾獵網) 更多
NCT00345605 (CTgov)	临床2期	精氨基琥珀酸尿	12	Buphenyl+Arginine (Low-dose Arginine Plus Buphenyl)	蓋醖網蓋夢憲網鏇鬱願(憲積簾築繭壓壓夢願醖): Slope = 0.5	-	2014-11-05
				Arginine (High Dose Arginine Alone)
NCT00439218 (CTgov)	临床1/2期	I型脊髓性肌萎缩症	5	sodium phenylbutyrate	蓋鹹艱選構衊顧願醖夢(壓積簾窪繭遞鏇繭齋繭) = 範廠繭鬱艱廠鬱鑰鹹蓋鏇選艱鑰壓鑰壓淵顧觸 (繭築簾鏇網淵蓋願衊夢, 壓觸壓齋鑰鬱選積蓋糧 ~ 膚窪簾願獵獵選網鹽夢) 更多	-	2010-07-20