MTHFR

厦门 2024年4月1日 /美通社/ -- 3月29日，中华医学会第十五次全国妇产科学术大会在厦门顺利召开。拜耳特邀日本东京杉山医院妇产丸之内院长黑田惠司教授在主会场做《日本生育治疗现状和补充多种维生素的重要性》主题演讲，分享了含叶酸的复合维生素在生殖领域获益的最新临床研究结果，并与国内生殖领域的大咖专家一起参与了亚洲生殖学术论坛，就 "反复流产"、"生育力和营养管理"等焦点话题展开深入地交流与探讨。 黑田惠司教授在主题演讲中谈到，日本每年新生人口数量一直在持续下降。1950年日本新生婴儿200多万名，到了2022年，新生儿的数量只有76万名。日本女性初婚及初产年龄持续增高，包括卵巢储备功能下降在内的多种因素，是生育力下降的重要原因。此外，压力、饮食和季节等因素导致营养不良现象增加，也会导致生育能力下降，还会增加孕期并发症的风险，影响胎儿未来健康。包含叶酸、维生素D和其他关键营养素在内的营养摄入对于孕前护理非常重要。 日本东京杉山医院妇产丸之内院长黑田惠司教授做主题演讲 黑田惠司教授分享的最新研究结果显示：60%的日本不孕女性存在MTHFR（亚甲基四氢叶酸还原酶）突变，但无论属于何种MTHFR基因多态性，补充含有0.8毫克叶酸、维生素B6、B12和维D的复合维生素（爱乐维 ® ）可有效改善叶酸和同型半胱氨酸水平，从而可以极大降低神经管缺陷（NTDs）风险。此外，补充复合维生素还可以改善妊娠结局。其中，维生素D跟流产有密切的联系，如果是缺乏或者不足的话，流产率会增加1.6倍，因此，维生素D在不孕症治疗中常被使用以改善妊娠率。黑田惠司教授强调,目前有研究结果显示，相比于单纯补充维生素D，联合补充复合维生素对于改善临床妊娠率的获益更大。 在随后举行的亚洲生殖学术论坛中，针对"反复流产"话题，黑田惠司教授谈到，造成反复性流产实际上有非常多的因素，但是有一半是不明原因的流产，因此在制定治疗方案之前，应该进行多项检查，可考虑宫内环境、维生素D和TH-1、TH-2的细胞比等检测。根据到现在为止的临床经验数据来看，在妊娠前女性应该就开始服用叶酸、VD等营养素的补充，这样可以很好地预防流产，提高活产率。 对此，黑田惠司教授进一步表示："日本和中国女性当中都会有60%-70% MTHFR基因突变的比率，我们的建议就是推荐前一个月或者更早就开始进行最佳的复合维生素补充的计划，有助于安全的妊娠和活产。" 目前，《围受孕期增补叶酸预防神经管缺陷指南》建议在女性在孕前至少三个月开始进行叶酸和多种微量营养素的补充。《生殖健康与多种微量营养素补充的中国专家共识》指出，备孕期间通过补充含0.8mg叶酸多种微量营养素有可能增加一年内妊娠率，降低成功妊娠的时间成本。

Eton Cares patient support program offers $0 co-pay to eligible, commercially insured patients* Product is now available exclusively through Optime Care DEER PARK, Ill., May 10, 2023 (GLOBE NEWSWIRE) -- Eton Pharmaceuticals, Inc (Nasdaq: ETON), an innovative pharmaceutical company focused on developing and commercializing treatments for rare diseases, today announced the commercial availability of Betaine Anhydrous for Oral Solution 180 grams for the treatment of homocystinuria. “We are excited to be offering a lower cost alternative1 to Cystadane while still providing full patient and provider support services. We believe the adoption of our product will result in significant financial savings to the U.S. healthcare system and to many patients,” said Sean Brynjelsen, CEO of Eton Pharmaceuticals. Betaine Anhydrous is available exclusively through Optime Care, a specialty pharmacy dedicated to helping patients with rare diseases manage their conditions. Optime Care will administer the Eton Cares Program in partnership with Eton Pharmaceuticals. The program will provide prescription fulfillment, insurance benefits investigation, educational support, and qualified patients financial assistance along with other services designed to help eligible patients access treatment. Eton Cares will offer co-pay assistance to allow for $0 co-pays for qualifying patients.* Clinicians seeking to prescribe Betaine Anhydrous can e-prescribe by selecting Optime Care as the pharmacy or fax in a patient referral form to 866-318-2990. Additional product details can be found on the product website, . For questions regarding prescription fulfillment, please contact Optime Care at 1-888-673-0039. 1 accessed March 2023 *Restrictions, limitations, and/or eligibility requirements may apply Cystadane is a registered trademark of Recordati Orphan Drugs SAS IMPORTANT SAFETY INFORMATION Warnings and Precautions Hypermethioninemia in Patients with CBS Deficiency: Betaine Anhydrous may worsen high methionine blood levels and accumulation of excess fluid in the brain has been reported. If you have been told you have CBS deficiency, your doctor will be monitoring your methionine blood levels to see if changes in your diet and dosage are necessary. Adverse Reactions Most common side effects were nausea and gastrointestinal distress, based on a survey of doctors. To report a suspected adverse event related to Betaine Anhydrous, contact Eton Pharmaceuticals, Inc. at 1-855-224-0233 or the U.S. Food and Drug Administration (FDA) at or call 1-800-FDA-1088. INDICATIONS AND USAGE Betaine anhydrous for oral solution is indicated in children and adults for the treatment of homocystinuria to decrease high homocysteine blood levels. Homocystinuria is a rare genetic disorder in which there is an abnormal accumulation of the amino acid homocysteine in the blood and urine. The following are considered to be homocystinuria disorders: Cystathionine beta-synthase (CBS) deficiency 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency Cobalamin cofactor metabolism (cbl) defect Please see full Prescribing Information for more information. About Eton Pharmaceuticals Eton Pharmaceuticals, Inc. is an innovative pharmaceutical company focused on developing and commercializing treatments for rare diseases. The Company currently has three FDA approved products in ALKINDI SPRINKLE®, Carglumic Acid tablets for oral suspension 200mg, and Betaine Anhydrous, and four late-stage pipeline candidates under development with dehydrated alcohol injection, ZENEO® hydrocortisone autoinjector, ET-400, and ET-600. In addition, the Company receives royalties on three FDA-approved products and is entitled to receive milestone payments on other products. For more information, please visit our website at . Investor Relations: Lisa M. Wilson, In-Site Communications, Inc. T: 212-452-2793 E: lwilson@insitecony.com 1406-v1

New research identifies genetic cause for hypermobility and hypermobile Ehlers-Danlos syndrome, a novel discovery that may also, for the first time, allow medical professionals to diagnose and treat the connective tissue disorders. Tulane University researchers have discovered a possible genetic cause for hypermobility (commonly known as double-jointedness) and a range of associated connective tissue disorders such as hypermobile Ehlers-Danlos syndrome, according to preliminary findings published in the journal Heliyon. You may know someone with overly flexible joints, a friend or family member who can easily slide into a split or bend limbs to impossible angles. But hypermobility is a more serious condition than being "double-jointed." For those with hypermobile Ehlers-Danlos syndrome (EDS), the same conditions that create fragile connective tissue can cause a range of symptoms that, on the surface, can seem unrelated: physical conditions such as joint pain, chronic fatigue, thin tooth enamel, dizziness, digestive trouble and migraines; and psychiatric disorders, such as anxiety and depression. Women with hypermobile EDS may also be at increased risk for endometriosis or uterine fibroids. Researchers have long struggled to find the cause of hypermobility and hypermobile EDS. Of the 13 subtypes of EDS, hypermobile EDS comprises more than 90% of the cases. But until this study, hypermobile EDS was the only subtype without a known genetic correlate. As a result, symptoms have often been treated individually rather than as the result of a single cause. Researchers at Tulane University School of Medicine have linked hypermobility to a deficiency of folate -- the natural form of vitamin B9 -- caused by a variation of the MTHFR gene. "You've got millions of people that likely have this, and until now, there's been no known cause we've known to treat," said Dr. Gregory Bix, director of the Tulane University Clinical Neuroscience Research Center. "It's a big deal." Those with this genetic variant can't metabolize folate, which causes unmetabolized folate to accumulate in the bloodstream. The folate deficiency may prevent key proteins from binding collagen to the extracellular matrix. This results in more elastic connective tissue, hypermobility, and a potential cascade of associated conditions. The discovery could help doctors more accurately diagnose hypermobility and hypermobile EDS by looking for elevated folate levels in blood tests as well as the MTHFR genetic variant. "Hypermobility is widespread and unfortunately under-recognized," said Dr. Jacques Courseault, medical director of the Tulane Fascia Institute and Treatment Center. "I'm excited about being able to treat the masses where people aren't going their whole lives being frustrated and not getting the treatment they need." Previously, hypermobility could only be diagnosed by the Beighton score, a somewhat controversial physical exam that involves measuring the bend of the spine, fingers and limbs. Combined with a historic lack of acceptance of hypermobility as a distinct body type that requires specialized treatment, the number of people with hypermobility is unclear, though it could comprise more than half the world's population. "Hypermobility is not rare," Courseault said. "Hypermobility is like a Ferrari that requires a lot of maintenance and the best synthetic oil. After knowing a patient's name and date of birth, I think it's prudent for clinicians to know which of these body types they have." Doctors discovered the connection between folate deficiency and the MTHFR gene by working with patients at Tulane's Hypermobility and Ehlers-Danlos Clinic, the only such clinic in the U.S. that focuses on fascia disorders. Blood tests of hypermobile patients who showed signs of associated medical conditions revealed elevated levels of unmetabolized folate. Subsequent tests showed that most of those with elevated folate serum levels had the genetic polymorphism. The good news is a treatment already exists. Methylated folate -- folate that is already processed -- is FDA-approved and widely available. "It's an innocuous treatment," Bix said. "It's not dangerous, and it's a vitamin that can improve people's lives. That's the biggest thing: We know what's going on here, and we can treat it." Though Courseault said more lab research and clinical testing needs to be done, patients who have been treated with folate have shown improvement: less pain, less brain fog, fewer allergies and improved gastrointestinal function. "We've discovered something in medicine that can help, not a small group of people, but potentially many across the world," Courseault said. "This is real, it's been vetted out well and clinically we're noticing a difference."