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- 2026-04-14 06:57:08
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- Hemlibra's reimbursement criteria to be rediscussed
- by Nho, Byung Chul Jun 11, 2021 05:53am
- Interest is rising as the Health Insurance Review and Assessment Service (HIRA) plans to call an expert advisory meeting to discuss the more effective operation of immune tolerance induction (ITI·antibody removal) therapies. At the end of this month, HIRA’s Pharmaceutical Standard Department plans to conduct deliberations to come up with reasonable improvement plans by comparing the review results regarding the revision of the reimbursement criteria for Hemlibra that was requested by academic societies and patient groups with cases overseas. The deliberation that will be held is significant in that it responds to the need for the re-establishment of the reimbursement criteria in accordance with the global trends, taking into account the hemophilia patients under the age of 12 that were unattended by existing standards and the convenience of administration. Of course, the best-case scenario would be to reflect the specific criteria for unfeasibility of ITI therapy to the notification in advance, however, the biggest victim and the ones worst affected by the criteria are the pediatric hemophilia patients who were discontinued prescription of Hemlibra since last April, pressing the need for the urgent revision of the standards. On the revision, the Korean Society on Thrombosis and Hemostasis has suggested improving the current reimbursement standards from three aspects. The first is for pediatric patients ineligible for ITI therapy. Patients who are not in year 1-5 of developing antibodies have a very low possibility of success using ITI therapies, however, under the current standards, these pediatric patients are not allowed to use the novel new drug Hemlibra injection until the age of 12 or older, and therefore has to use bypassing therapies. Other advanced countries abroad do not require compulsory use of ITI therapies through reimbursement criteria, and the domestic environment that restricts the use of new drugs needs to change. Also, the authorities do not not require prior use of ITI therapies for the use of bypassing therapies. Also, requesting objective data on why pediatric patients under the age of 5 cannot receive ITI therapy is considered to be the most difficult by HCPs in practice. In this sense, HIRA has the responsibility and duty to objectively and closely review such conditions to reflect reality. Other countries (U.K, Australia, etc.) are reviewing reimbursement for Hemlibra even in patients who are eligible for bypassing therapies. Cost-effectiveness analysis of pediatric patients showed that Hemlibra, which is used as maintenance therapy, is more cost-effective than bypassing therapies that can be used at every bleeding event. These data support the rational validity of the academic society's request to remove the priority consideration criteria of ITI therapies. Even HIRA’s Pharmaceutical Benefit Evaluation Committee had determined that the annual pharmaceutical expense of Hemlibra was cheaper than bypassing therapies in pediatric patients in October 2020. If the current reimbursement criteria reflect even a fraction of the requests and perspective of the patients and prescription circumstances, the situation would dramatically improve for the pediatric patients who were left to use only bypass treatment or bear the severe pain from bleeding. “We hope that the reimbursement criteria are revised soon in consideration of the pediatric hemophilia patients and their families," said an official from the Korean Society on Thrombosis and Hemostasis, expressing his hope.
- Policy
- 1 in 5 people received COVID-19 vaccinations in Korea
- by Kim, Jung-Ju Jun 11, 2021 05:53am
- With the number of daily COVID-19 cases constantly in the 500 range, over 10 million people in Korea have received one or more shots of COVID-19 vaccines. This is nearly 20% of the total population, in other words, 1 out of 5 people in Korea have now been vaccinated. In the midst of the increasing outdoor activities and the upcoming summer holiday season, authorities have been encouraging the public to receive COVID-19 vaccinations to achieve herd immunity. According to the COVID-19 Vaccination Response Team (Eun Kyeong Jeong), as of 12:00 a.m. today (June 10th), 585,615 people received their vaccinations yesterday. Among them, 562,087 people received their first shot, and. 23,528 people received the second shot yesterday. Cumulatively, 9,794,163 people have now received their first vaccination shots, and 2,349,485 had received their second shot and completed vaccinations. By product, the rate of those first vaccinated with the AstraZeneca vaccine was 63.6%, and those who completed vaccinations with the AZ vaccine were 6.2%. For the Pfizer vaccine, first vaccination rate was 79.5%, and the vaccination completion rate was 44.7%. When adding the subtotal of those who received one or more shots of COVID-19 vaccines as of 11 a.m. today, the total number exceeded 10 million. Vaccination of the Janssen vaccine for reservists and civil defense members aged 30 or over started today. By 11 a.m., a total of 10,060,000 people tentatively received their first shot of the COVID-19 vaccines. This accounts for around 19.6% of the country’s total population, which means around one out of every five people received one or more shots of COVID-19 vaccines. The COVID-19 Vaccination Response Team explained that this achievement was made 105 days after starting vaccinations on high-risk groups on February 26th. The team added, “We would like to express our gratitude to the people who trusted our experts and the government and actively participated in vaccinations as well as the consigned medical institutions, immunization centers, public health centers, and their HCPs and staff that safely carried out the vaccinations..”
- Policy
- Moderna vaccine, 100% effective for Asians in clinical trial
- by Lee, Tak-Sun Jun 11, 2021 05:53am
- Moderna's COVID-19 vaccine has been shown to be 100% effective in Asian clinical trials. However, there is a limit to reaching a meaningful conclusion because there are fewer test subjects. The minutes of the Central Pharmaceutical Affairs Review Committee, released by the MFDS on the 7th, contain this information. The Central Pharmaceutical Affairs Review Committee meeting took place on the 13th of last month and it was approved on the 21st of the same month. At the meeting, one participant asked, "Is it possible to submit comparative data on effects and abnormal cases between Asians and Westerners for reference to domestic inoculations, including 4.6% of Asians?" and the MFDS responded. The MFDS explained, "In the U.S. clinical trial, which included 4.6% of Asians, five out of 690 Asian test groups and 620 control groups were confirmed for COVID-19, and none of them occurred in the test group, showing 100% effect." "It's hard to make a significant conclusion through the analysis of the sub-group," he said. The MFDS also said, "We monitored all 30,000 predicted abnormal cases related to immunogenicity, but there was no data analyzed separately about Asians. There was no data that any unexpected abnormal cases occurred characteristically in Asians." Moderna vaccine had a preventive effect of 94.1% on 28,207 people aged 18 or older. Although the proportion of Asians among the test subjects is not high, Asians are more effective than the total subjects. "It is important to notify first-line medical personnel of precautions," a member of the committee said. "It is necessary to mention the high frequency of adverse reactions, such as the severe musculoskeletal response of 10 times higher than the first dose." The final permission included the drug adverse reaction item, "The frequency and severity of abnormal cases increased more in two doses than in one dose, and the frequency of reactive cases was slightly lower in older people (ages 65 and older)." Moderna vaccine is approved by GC Pharma and distributed in Korea. 5.5 million doses arrived for the first time in Korea on the 1st and are set to be inoculated.
- Policy
- OTC combination drug with APAP-IBU, not approved again
- by Lee, Tak-Sun Jun 11, 2021 05:53am
- Advil Dual Action in USOTC approval of APAP-IBU complex has failed again. Experts who participated in the review objected to the permission on the grounds that safety issues had not been resolved. According to the Central Pharmaceutical Affairs Review Committee minutes released on the 7th, seven out of 10 members opposed the OTC approval of Acetaminophen-Ibuprofen. The MFDS is also known to have opposed it, and finally, the complex failed to make its second attempt at licensing after 2017. Based on UK permit in 2017, this time it applied for permit based on US FDA. The complex requested in 2017 was a product that take one or two tablets of Acetaminophen 500mg-Ibuprofen, and it applied for permission to take two tablets of Acetaminophen 250mg-Ibuprofen 125mg. The U.S. FDA approved GSK's "Advil Dual Action" containing Acetaminophen 250 mg and Ibuprofen 125 mg as OTC. It was the first case in the United States that Acetaminophen-Ibuprofen complex was approved as OTC. At the Central Pharmaceutical Affairs Review Committee held on the 17th of last month, members of outside experts generally opposed. "There are already many single drugs, but the benefits of taking them as a complex seem to be in marketing rather than validity," a member said. "It is questionable whether consumers will keep the fact that they should take them within three days because they are feared to have side effects in the long term." Another member of the committee opposed, "We reviewed it as complex of the same ingredients in 2017, and it seems that there is no special accumulation of data on safety or efficacy of drugs. Clinically, elderly patients experience a lot of gastrointestinal bleeding after taking a lot of painkillers." Another committee member said, "I think it is important to the general consumer that the risk is greater than the benefit. Failure to comply with dosage can increase the risk of liver damage, and it is not appropriate to grant permission." A member of the Committee in favour of permitting the complex stressed that it was appropriate in terms of accessibility. "There are consumers who want to buy items that are very popular in the U.S. but are currently illegally using them in Korea. Pediatrics often use both for fever at the same time, and they already prescribe Acetaminophen as powder and Dexibuprofen as liquid." However, only three out of 10 members voted in favor of the permit, and the deliberation committee voted that the approval of OTC for Acetaminophen-Ibuprofen was not valid. Based on this, the MFDS also reportedly refused to grant permission. Kolmar's "Bufferin Lady," which was approved in 2008, also contains Acetaminophen (65 mg) and Ibuprofen (65 mg). However, it also includes Allylisopropylacetylurea and Caffeine Anhydrous.
- Company
- What is the most likely treatment for Alzheimer's?
- by Kim, Jin-Gu Jun 10, 2021 05:55am
- With 2021 Bio Korea held on the 9th, an innovative strategy session is being held for early diagnosis and treatment of Alzheimer As Biogen's Aducanumab (Aduhel) was approved by the U.S. Food and Drug Administration (FDA) for the first time in 18 years as a treatment for Alzheimer's, competition for development of Aducanumab. Currently, Roche, Eli Lilly, Ezai, Johnson and Johnson are considered companies that have started to develop treatments for Alzheimer's. In Korea, GemVax & KAEL and Aribio, Ildong, MEDIPOST, and Hyundai are developing dementia drugs. Among them, Zembax and Aribio are said to be fast in development. At the "2021 Bio Korea" held at COEX in Seoul on the 9th, the current status of development of Alzheimer's drugs at home and abroad was discussed under the theme of "Innovative Strategies for Early Diagnosis and Treatment of Alzheimer's Disease." In particular, the session drew keen attention due to the influence of Aducanumab's FDA approval a day ago. ◆Aducanumab, positive impact on development of dementia treatment drugs by domestic companies GemVax has completed phase 2 of GV1001 in Korea. Earlier this year, it applied for Phase III clinical trials, but the MFDS rejected. The reason was that the number of test subjects was insufficient. GemVax plans to re-apply for Phase III clinical trials by recruiting additional subjects. GemVax is also preparing for Phase II clinical trials in the United States. "We are actively discussing the resumption of clinical trials as COVID-19 situation calms down in the U.S.," Song Hyung-gon, CEO of GemVax & KAEL, said in an announcement on the day. "We are also in contact with local companies in Europe for clinical progress." Aribio is on clinical trial in the United States. In March, the company announced interim results of Phase II clinical trials on AR1001. In a six-month clinical trial of 210 patients, both Aribio 10 mg and Aribio 30 mg groups showed improved cognitive function. In the case of Aribio 10mg group, it was observed that the cognitive function improved 25.6% compared to the placebo group at 26 weeks. Based on these results, Aribio plans to apply for Phase III clinical IND in the United States within this year. With 2021 Bio Korea held on the 9th, an innovative strategy session is being held for early diagnosis and treatment of Alzheimer Ildong received approval for phase 3 clinical trials of 'ID1201' in South Korea in 2019. ID1201 is a natural product derived from the Pérsian lílac fruit. The company believes that the ingredient will improve cognitive function by inhibiting the production of β-amyloid and brain inflammatory substances. However, it is said that it is difficult to recruit subjects due to COVID-19 situation. MEDIPOST completed Neurostem's Phase I and Phase 2a clinical trials. In phase 2a, statistical significance was not obtained the Alzheimer's disease evaluation scale. However, MEDIPOST plans to confirm the tendency of β-amyloid levels to fall and reaffirm the results after long-term tracking by continuing clinical trials like Biogen. ◆Phase 3 clinical trials such as Roche's Gantenerumab and Solanezumab by Lilly are underway Colin Masters, Professor of University of Melbourne, introduced the development of global Alzheimer's drugs. According to him, in addition to FDA-approved Aducanumab by Biogen, there are Gantenerumab by Roche, Solanezumab and Donanemab by Lilly, Crenezumab co-developed by Roche and Genentech, Bapineuzumab co-developed by Pfizer and Janssen, and BAN2401 jointly developed by Eisai and Biogen. Progress in development confirms that Solanezumab and Gantenerumab are relatively advanced. Phase III clinical trials are under way. Both treatments target β-amyloid, such as Aducanumab. The target is the same, but there is a slight difference in how it is involved in β-amyloid. Aducanumab removes β-amyloid directly. Solanezumab neutralizes toxicity in the intermediate stage of β-amyloid formation. Gantenerumab prevents amyloid from accumulating in the first place. The β-amyloid reduction effect shown to date is comparable to that of Aducanumab. A PET scan of the brain's β-amyloid buildup showed that Aducanumab succeeded in removing 70%. Gantenerumab, Lecanemab, and Donanemab are similar. Bapineuzumab is 12-25% lower, while Solanezumab and Crenezumab do not have separate PET imaging data. "There is no doubt that we need to treat Alzheimer's with combination drugs," Professor Masters said. "We need to use a variety of mechanisms at the same time to lower our amyloid levels." However, it is appropriate to start with low capacity in the early stages and gradually increase it to high capacity."
- Company
- Korean novel drug Leclaza may become cheaper than Tagrisso
- by Eo, Yun-Ho Jun 10, 2021 05:55am
- The daily drug cost of Korea's novel anticancer drug 'Leclaza' is expected to be set at a level that is around ₩10,000 cheaper than ‘Tagrisso.’ Dailypharm found that the price of Yuhan Corp.’s 3rd generation epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI) Leclaza (lazertinib) was set at ₩69,000 per each 80mg tablet after drug pricing negotiations with the National Health Insurance Service (NHIS) on the 7th. If a patient takes the daily recommended dose of 240mg every day, the total cost will be around ₩207,000 per day. The recommended daily dose of Tagrisso (osimertinib) is 80mg, and each 80mg tablet costs ₩217,782. Both prices are based on the list price. The relatively generous price that was set for Leclaza, despite it being a latecomer drug, was deemed possible due to the drug being a domestic novel drug, and in consideration of its potential indication expansions in the future. Accordingly, if Leclaza passes the Ministry of Health and Welfare’s Health Insurance Policy Deliberative Committee this month, the drug will be available with reimbursement from July. This may start a full-scale competition in the second-line treatment of non-small cell lung cancer (NSCLC) between Leclaza and AstraZeneca’s Tagrisso. Leclaza's reimbursement is being processed at an unprecedented pace. After receiving marketing authorization in Korea on January 18th of this year, in one month the drug passed the Health Insurance Review & Assessment Service’s Cancer Disease Deliberation Committee, then passed HIRA's Pharmaceutical Benefits Assessment Committee (PBAC) review in April. Also, MOHW had ordered a negotiation period a week earlier for Leclaza compared to other drugs that passed the PBAC to further speed up the listing process. If the drug is listed in July, the whole listing process from approval to listing would have taken less than 6 months in total. Leclaza was first approved for the second-line treatment of lung cancer, specifically, for the treatment of patients with locally advanced or metastatic non-small cell lung cancer (NSCLC) with positive EGFR T790M mutation who have been previously treated with an EGFR-TKI. The approval was based on the clinical trial results of its Phase II clinical trial (therapeutic exploratory trial) that was conducted in Korea, under the condition that the company conducts and submits Phase III trial (therapeutic confirmatory study) data after the market release. Currently, first-generation EGFR TKIs AstraZeneca's Iressa (gefitinib) and Roche's 'Tarceva (erlotinib)'; second-generation EGFR TKIs 'Geotrif (afatinib)' and 'Vizimpro (dacomitinib)'; and third-generation EGFR TKIs Leclaza and Tagrisso(osimertinib) are being prescribed in Korea.
- Company
- Former GSK GM Yoo-Seok Hong to head D&D Pharmatech
- by An, Kyung-Jin Jun 10, 2021 05:55am
- Yoo-Seok Hong, New CEO of D&D Pharmatech Yoo-Seok Hong, former General Manager of GSK Korea will be joining the leadership of the biotech company, D&D Pharmatech. On the 9th, D&D Pharmatech had announced that the company has appointed Yoo-Seok Hong as its new CEO. Hong is a seasoned expert with extensive experience in marketing and business management at multinational pharmaceutical companies. Hong was as Marketing Director for Eli Lilly's osteoporosis treatment and Senior Director of Strategy in the Emerging Market Business Unit of Eli Lilly and Company, after which he served as General Manager at various Korean subsidiaries of multinational pharmaceutical companies including Lilly Korea, Teva-Handok, and GSK Korea. In February 2018., Hong was appointed General Manager of Pharmaceutical in GSK Canada, then as the Vice President of the GSK headquarters in the U.S., and was in charge of commercializing the company’s innovative liver treatment from September 2020. As a leader, Hong is considered to have played a significant role in elevating the status of Korean managers in the international market. D&D Pharmatech was established in 2014 by Professor Seulki Lee of Johns Hopkins School of Medicine. It has headquarters in Korea (Pangyo) and the U.S. (Gaithersburg, MD), and has five U.S. subsidiaries focusing on specific therapeutic areas, where it conducts global clinical research and development. 10 global clinical projects using new drug candidates that were developed by the company’s research team in Korea and abroad for neurodegenerative diseases, fibrotic diseases, and metabolic diseases are being tested at sites in the U.S. and Europe. The company’s treatment in development for Parkinson’s disease (PD) and Alzheimer’s disease (AD) is currently in a large-scale Phase II trial. Recently, the company has expanded its business to biomarkers that can diagnose neurodegenerative patients and big data to analyze its cause. D&D Pharmatech plans to present the proposal to appoint Hong Yoo-Seok as an inside director at the general shareholders' meeting on the 18th, and appoint Hong as CEO at the Board of Directors meeting. Through the appointment, the company will be operated under an independent representative system with Dr. Seulki Lee, the founder, and CEO overseeing the entire R&D business, and CEO Yoo-Seok Hong in charge of the company's business development, management, and operation. The company anticipates that Hong will speed up the global technology export and commercialization of ongoing clinical projects. On his appointment, Hong said, “I have high expectations for D&D Pharmatech’s core pipeline and believe in its market potential and possibility of success. As CEO, I aspire to create a successful Korean global biotech model in which its three components - continuous discovery of new candidate substances, successful clinical development, and global commercialization – can operate in harmony.”
- Company
- Once again, the fear of impurities
- by Chon, Seung-Hyun Jun 10, 2021 05:55am
- Fear of impurities is spreading again in the domestic pharmaceutical industry. There is a high risk that the aftermath of large-scale withdrawal of impurities from Canada will also damage Korea. Pharmaceutical companies are nervous in that it is a new type of impurity that is different from the one that has built a verification system over the past three years. ◆Start investigating impurities of new types from Canada and panic because there is no test method According to the industry on the 7th, pharmaceutical companies are looking at the details of impurities of angiotensin II receptor blockers (ARB) such as Irbesartan, Losartan, and Valsartan. On the 4th, the Ministry of Food and Drug Safety ordered the three ingredients to submit the results of the "Azido" impurity evaluation and test test by the 14th, and began to seek countermeasures. Health Canada announced on the 31st of last month that Azido was detected in Irbesartan, Losartan and Valsartan from nine pharmaceutical companies, including Teva and Sandoz, and that voluntary recovery is underway. They are large enough to reach a total of 227 lot numbers. Irbesartan had 124 lot numbers, Losartan with 97 and Valsartan with 6 lot numbers. Health Canada announced on the 31st of last month that Azido was detected in three ingredients of nine pharmaceutical companies: Irbesartan, Losartan, and Valsartan, and voluntary recovery is underway. Pharmaceutical companies are very nervous in that impurities detected in Canada are new types that have not been previously found. An official from a pharmaceutical company said, "We asked the supplier for data on Azido, but we are not sure if there is any." Azido is a type of carcinogenic substance in the azide family. There is no known specific risk of cancer in the human body, although it may increase the risk of cancer. Nitrosamines such as "NDMA" and "NDEA" have been detected in Korea since 2018, but no recovery measures have been taken due to the detection of azide-based impurities. In raw materials such as Irbesartan, Losartan, and Valsartan, Azido is a harmful substance without standardization. The risk of Azido detection was not recognized in advance, and there are currently no Azido impurities test methods. The development is similar to that of the detection of NDMA in Valsartan three years ago. NDMA, a carcinogenic substance detected in the Valsartan issue, is a harmful substance that does not have a standard. Neither government nor pharmaceutical companies were able to recognize the dangers of detecting NDMA from raw materials for Valsartan. The MFDS drew up a test method to detect NDMA in the raw materials of Valsartan, and prepared a new standard. The fact that the cause of Azido is unknown also amplifies anxiety. The MFDS looked at the manufacturing environment in which NDMA can be produced after the impurity Valsartan wave erupted. NDMA detected in Valsartan-based drugs was created by chemical reactions during the manufacturing process. In the process of manufacturing Valsartan, a major intermediary, "Biphenyltrazol", was manufactured, and NDMA was created in the process of synthesizing Biphenyltrazol and rapidly cooling it using nitric acid after tetrazol formation. As with the initial discovery of NDMA, the risk of Azido is still unknown. "People who take daily medicines containing Azido below the acceptable level for 70 years are not expected to increase their risk of cancer," Health Canada said. Until recently, pharmaceutical companies have completed inspections of nitrosamine impurities such as NDMA and NDEA. In November 2019, the MFDS ordered pharmaceutical companies to submit a report on the possibility of nitrosamine-based impurities in all raw materials and finished drugs, and the data submission was completed in a year and a half. The MFDS must submit data on impurities in all medicines to allow lot release without testing for nitrosamines impurities. However, if a large-scale suspension of sales due to the detection of excess impurities of a new type rather than nitrosamines, confusion over impurities is expected to spread throughout the industry. An official from the MFDS said, "Recovery of drugs including Azido is currently underway in Canada alone.""In Canada, we expect to be able to collect related data through raw material drug clients as we have tested the impurities. We are in the process of collecting information."
- Policy
- 5 companies' developing vaccines have completed Phase I
- by Kim, Jung-Ju Jun 10, 2021 05:55am
- Minister Kwon Deok-cheol is briefing on the report at a special quarantine inspection meetingThe development products of five companies that are developing domestic COVID-19 vaccines have all been found to have completed phase 1 clinical trial and entered the next stage Depending on the product, some vaccines are aimed at entering phase 3 clinical trials as early as next month (July). The MOHW reported the status of vaccine development in Korea and future plans at the 3rd Special Quarantine Inspection Meeting on COVID-19 this afternoon (7th). Since May, the government has jointly operated the Pan-Government COVID-19 Vaccine Treatment Clinical Trial Support TF" to share the progress of each company and continue to check the preparation status of each department." First of all, it plans to provide all-out support for the rapid development of domestic vaccines. The government plans to introduce IRB to minimize unnecessary administrative waste and expedite clinical trials in line with the domestic vaccine phase 3 clinical plan. It will secure additional R&D budgets for Phase III clinical support to distribute risks and reduce corporate costs due to Phase III clinical progress, and actively purchase domestic vaccines in advance if development results are visible to some extent. Considering that most domestic development companies are planning to promote phase 3 clinical trials in controlled clinical trial, the government plans to make every effort to secure standard substances, establish standard test methods (SOPs) and secure vaccines so that controlled clinical trial can be carried out smoothly. Controlled clinical trials refer to the validation of a development vaccine by identifying a similar level of immunogenicity (such as antibodies) to a previously licensed vaccine. Looking at foreign cases, Valneva, France, is pursuing Phase III clinical trials with AstraZeneca vaccine and controlled clinical trials for the inactivated vaccine as of April 21. If clinical trials are completed, or if development is suspended or failed, vaccinations will be given first. At the briefing, Kwon Deok-cheol, Minister of Health and Welfare, said, "The government will 'support' until the development of domestic vaccines is completed, and we will continue to make pan-government efforts to ensure rapid performance."
- Company
- Family testing for rare genetic diseases are needed
- by Eo, Yun-Ho Jun 09, 2021 06:08am
- As the number of rare genetic diseases that can be managed increases, the importance of early diagnosis through family tests is emerging. According to the KDCA's "2019 Statistical Yearbook of Rare Disease Patients," the number of new rare diseases in 2019 stood at 55,499 with about one per 1,000 population. The number of patients suffering from each rare disease is rare, but the total population is indescribably large. Many neighbors around us are already living with rare diseases. However, the development of the medical and pharmaceutical industries has enabled prediction and management of certain genetic diseases. For example, Fabry disease, one of the most common resource accumulation diseases, is a genetic disease passed down from parent generation to child generation. The cause of Fabry disease is that women with genetic variation have a 50% chance of passing it on to their children regardless of gender, and men are 100% inherited from their daughters and not from their sons. Therefore, patients with Fabry disease may not be their fault, but sometimes live under the social stigma and negative perception of "genetic disease" as the patients. Genetic possibility of Fabry disease However, since Fabry disease is a treatable, it is most important to inform family members as soon as one of the family members is diagnosed and start treatment before the disease progresses to severe conditions. This can prevent worsening symptoms and irreversible organ damage, and especially the younger generation can relieve vague anxiety about childbirth by making family plans in advance. In fact, patients with Fabry disease often postpone or avoid the second-generation plan for fear that their children will inherit the disease. Fabry disease is a legally designated "preconception genetic diagnosis" that allows patients with Fabry disease to conceive a healthy fetus. Preimplantation diagnosis is a method of transplanting embryos that do not have the gene of the disease into the womb through pre-pregnancy genetic testing to help pregnant a child without genetic disease. Fabry disease patients often hesitate or give up pregnancy itself," said Kwon Young-joo, a professor of kidney medicine at Korea University Guro Hospital. Professor Kwon said, "But with institutional help, we can give birth to healthy children without worrying about heredity." If Fabry disease has been diagnosed after pregnancy, it is recommended that a newborn screening test is performed to determine whether a child is born with Fabry disease or not for proper treatment and prognosis. This is because if a child is diagnosed with Fabry disease, he or she will visit the hospital periodically as he or she grows up to monitor the progress of the disease, and if necessary, the prognosis may be good if treatment begins early in childhood. There is also an unmet demand. Genetic diagnosis before implantation is non-reimbursed, and not yet been covered by health insurance. Consequently, there may be an economic burden on the cost. "Genetic diagnosis before implantation is not covered by health insurance yet," said Professor Kwon Young-joo. Diagnosis is also recommended for the healthy life of children. "As much effort is being made by health authorities and all walks of life to overcome the low birthrate problem, consideration and review are needed in these careful areas."
