Category Archives: Genetic Therapy

Approximately 13% of instances of severe combined immune deficiency (SCID) are due to adenosine deaminase (ADA) deficiency. Gene therapy (GT), hematopoietic cell transplantation (HCT), and enzyme replacement therapy (ERT) are examples of treatment.

For a study, researchers sought to look at 131 patients who had been engaged in the Primary Immune Deficiency Treatment Consortium SCID trials and had been diagnosed with ADA-SCID between 1982 and 2017. Clinical, immunologic, genetic, and therapeutic results at baseline were examined.

A total of 56 patients had their first definitive cellular therapy (FDCT) receiving HCT without preceding ERT (HCT), 31 received ERT before getting HCT (ERT-HCT), and 33 received GT before receiving ERT (ERT-GT). About 49.5% for HCT, 73% for ERT-HCT, and 75.3% for ERT-GT; P<.01; for 5 years of event-free survival (EFS, alive, no need for more ERT or cellular treatment). Five years following FDCT, the overall survival (OS) rates were 72.5% (HCT), 79.6% (ERT-HCT), and 100% (ERT-GT; P=.01). Patients having HCT at <3.5 months of age had a better 5-year OS (91.6% vs 68% if 3.5 months, P=.02). The 5-year EFS (33.1% vs 68.2%, P<.01) and OS (64.7% vs 82.3%, P=.02) were worse in patients who had an active infection at the time of HCT (independent of ERT). For matched sibling and matched family donors (MSD/MFD), 5-year EFS (90.5%) and OS (100%) performed best.

There was no difference between HCT utilizing a variety of transplant techniques and ERT-GT for patients treated after the year 2000 who had no current infection at the time of FDCT in terms of 5-year EFS or OS. When MSD/MFD HCT and GT were not accessible, it implied that alternate donor HCT may be investigated. It was especially true when newborn screening detects patients with ADA-SCID shortly after delivery and before the start of infections.

Reference: ashpublications.org/blood/article-abstract/140/7/685/485484/Outcomes-following-treatment-for-ADA-deficient?redirectedFrom=fulltext

Read more here:
Treatment Outcomes in Severe Combined Immunodeficiency in ADA-Deficient Patients - Physician's Weekly

1. Introduction

The recent significant advancements in regenerative therapy has brought new hope to patients with various incurable diseases, and the thriving regenerative therapy technology and regenerative medicinal products[1] have also boosted the need for cells, genetic samples, and their derivative biological data for research use by research institutions, biotech companies, and healthcare institutions in the biotech industry chain. However, the difficulty in obtaining specimens and their derivative biological data for research use under the current laws, regulations, and practices indirectly increases the cost for and difficulty in research and development. Furthermore, because regenerative therapies are expensive, even when new regenerative treatment methods are introduced, many patients still cannot afford the therapy and receive the treatment after they and their families have been burdened by the long-term illness.

Hence, regarding the obtaining of human cells, genetic samples, or their derivative biological data for the research and development of regenerative therapy, in recognition of the patients right to determine the disposition of his/her body tissues and their biological data, it is worth discussing whether or not patients of specific diseases (e.g., critical or rare illnesses) are allowed to license the use of or donate their cells, genetic samples, or their derivative biological data on a benefit-sharing basis to lower their economic burden, as well as to facilitate the use of such cells and genetic samples having research value to help develop regenerative therapy technology.

2. Major legal bases governing the collection and use of human cells, genetic samples, and their derivative data

In early times, the Notice for the Collection and Use of Human Specimens for Research Use and Human Research Ethics Policy Guidelines promulgated by the competent authorities were the major legal bases for obtaining and using human cells, genetic samples, and the relevant data for the research and development of biomedicine. Following the addition of (1) the human trial-related regulations to the Medical Care Act in 2009; (2) the legislation and passage of the Human Biobank Management Act in 2010 to govern the establishment, use, and management of the human biobank; (3) the establishment of the Human Subjects Research Act in 2011 for the control over the research involving obtaining, investigating, analyzing, or using human specimens or an individual persons biological behavior, physiological, psychological, genetic or medical information; and (4) Article 6 of the Personal Data Protection Act (2016) to regulate the collection, processing, and use of sensitive personal data including medical records, healthcare, genetics, and health checkups, the legal basis governing personal cells, genetic samples, and their derivative data have been elevated to the level of an act.

In terms of the subjects governed by the aforementioned acts, the Human Biobank Management Act regulates human biobank, i.e. a database established for the biomedical research (i.e., medical research in relation to basic biological characteristics, such as genes) to store the participants specimens, natural persons information, and other related data and information based on human population or specific groups without delinking. The Human Subjects Research Act governs human subject research, i.e. the act of engaging in research involving obtaining, investigating, analyzing, or using human specimens or an individual persons biological behavior, physiological, psychological, genetic or medical information. The Personal Data Protection Act governs personal data, i.e. a natural persons name, date of birth, ID Card number, passport number, features, fingerprints, marital status, family information, education background, occupation, medical records, healthcare data, genetic data, data concerning a persons sex life, records of health checkups, criminal records, contact information, financial conditions, data concerning a persons social activities and any other information that may be used to directly or indirectly identify a natural person. Since the above three acts respectively regulate the research of human subjects, the human biobank required for human subject research, and the sensitive personal data, such as data of medical records, healthcare information, genetic information, and health checkup information required for the research, the process of conducting regenerative medicinal research would fall within the scope of these acts.

3. Whether benefit sharing is allowed for the provision of human cells, genetic samples, and their derivative data under the current laws and regulations

(1) Current legal requirements

Previously, the Notice for the Collection and Use of Human Specimens for Research Use and Human Research Ethics Policy Guidelines governed the benefits derived from research by requiring notice to the provider/participant and entry of a written agreement, specifying that when rights and interests, such as commercial benefits, may derive from the collection and use of specimens, the user of specimens shall inform the provider of specimens and a written agreement shall be concluded, the participants shall be informed of and a written agreement shall be concluded for potential commercial benefits derived from the human subject research. Further, unlike the Assisted Reproduction Act and Human Organ Transplant Act, the Human Subject Research Act does not explicitly require the free donation or provision of specimens. According to the interpretation of such a legislative model, it seems that benefit sharing for the provision of human cells, genetic samples, and their derivative data for human subject research has not been completely banned by the current Human Subject Research Act.

Furthermore, with reference to Article 21, Paragraph 1 of Human Biobank Management Act: Any benefits derived from the commercial use and received by an Operator and Biobank shall be given back to the human population groups or specific population groups to which the respective participants belong. Based on the authorization, the competent authorities have further established the Regulations Governing the Benefit Sharing for the Commercial Use of Human Biobank (Benefit Sharing Regulations) to govern the benefit sharing scheme for the commercial use of the Human Biobank. According to Article 5 of the Benefit Sharing Regulations: Benefits derived from the commercial use of the Human Biobank shall be shared according to the following methods: (1) the operator and user of the biobank shall define the amount or ratio of benefit sharing in a contract in advance for the predictable royalty income; and (2) the biobank operator shall define fixed-amount charges according to the nature and quantity applied for use for difficult-to-predict potential commercial benefits. When the biobank operator is the user as defined previously, the ratio of benefit sharing or fixed-amount charges shall be defined by its institutional review board (IRB). According to Article 6 of the Benefit Sharing Regulations: The recipients of the benefits from the commercial use charged by the biobank operator are as follows: (1) the specific group which is a major contributor to the production of benefits; and (2) the population when the connection with any specific group contributing to benefit production is hard to define. When sharing for the aforesaid recipients, the benefit sharing or fixed-amount charges in the preceding article shall not be lower than 50% of the amount actually charged and shall be disclosed to the public.

Additionally, the Benefit Sharing Regulations also stipulate that the obligation for the user to declare the status of future commercial use shall be included in the contract between the Biobank and the user, and the IRB of the biobank shall supervise the regulation, use and management of the commercial benefits of the biobank. Moreover, the biobank operator shall, on an annual basis, disclose information regarding the benefits received from its commercial use of the biobank, and the biobank shall also explain the principles and provide participants with written information regarding the benefit sharing for the commercial use during the recruitment stage.

Based on the above, under the current laws and regulations, only 50% of the benefits from commercial use will be given back to specific groups or populations in human subject research using the specimens and data of the human biobank, the current laws and regulations do not require that biobank operators to share benefits with the individuals providing specimens. It seems that the direct benefit sharing for individuals of the potential commercial benefits, rights, or interests derived from human subject research is left to be determined in individual contracts, and neither the obligation for allocation of nor the right to request for such benefit sharing is mandatory.

(2) Current status of operation of the benefit sharing mechanism of commercial benefits from human biobanks and human subject research

Under the current regulatory framework, in consideration of the research ethics, to avoid the allegation of inducement with interest of participants in the research projects, projects with large databases will not provide direct monetary rewards to their participants. For example, the Taiwan Biobank of the Academia Sinica has stated that its participants will not receive economic benefits or rewards of any kind, and participants shall make no claim for any property interest for the specimens and their derived data provided. The outcomes (e.g., intellectual property rights) with commercial value directly or indirectly derived from the specimens and the relevant data or information provided by participants shall be awarded to the unit conducting the research and development, and participants shall make no claim of any rights over such outcomes. Instead of sharing benefits with individuals providing specimens, the Taiwan Biobank will provide the population or specific group to which the participants belong with the related commercial benefits produced or derived from the use of the biobank according to the Taiwan Biobank Directions for Benefit Sharing with the Benefit Derived from Commercial Use. Additionally, the Taiwan Biobank will never voluntarily provide the examination data or research outcomes of the specimens provided by participants, except at the request by the participants for an examination report. The Taiwan Biobank will only inform the general public of the research results obtained from the use of the biobanks specimens and data over the institution website, news, or the press.[2]

In conclusion, as the right to claim for benefit sharing of the providers of personal cells, genetic specimens, and their derived data is not stipulated in the current laws and regulations, the common practice is: research and development or healthcare institutions request individuals or patients for free provision of personal cells, genetic specimens, or their derived data based on public interests, while the research outcomes, including intellectual property rights and the gains from the commercialization of medications developed, obtained from the use of such specimens or data, are awarded to the research and development units, biotech companies, hospitals, or pharmaceuticals. As a result, besides the inability to share in the benefits from the subsequent research outcomes and the development of medical technologies and medications, the individuals or patients providing their own specimens must pay high costs for therapies using the new technologies or medications developed instead. Consequently, it seems that under such a practice participants making contributions to the regenerative industry will not be able to effectively and adequately share in the overall profits and outcomes. Hence, it seems that there is a need to improve or relax the current commercial benefit sharing mechanism.

4. Recommendation and reflection

In general, the assessment of access to medical therapy usually include the affordability and availability of therapies. In terms of accessibility to regenerative medical resources, although the availability of part of the cell and genetic therapy is covered in the current laws and regulations and the three acts regarding regenerative therapy that are currently under discussion among administrative sectors, the affordability of regenerative medical therapy is not emphasized. As regenerative medical therapies are expensive, if patients may receive the commercial benefits gained by research institutions or biotech companies developing such therapies for providing their own cells and genes for research, besides benefiting the research of therapies for the relevant illnesses, this mechanism can help patients to lower the economic burden from the therapy.

Hence, this paper recommends the provision of substantial benefits and assistance for specific participants through and by adjusting the current mechanism for sharing commercial benefits. For example, institutions engaging in human subject research and human biobanks should be requested to provide participants with information regarding the research outcomes of the relevant illnesses, the opportunity to receive these treatments in priority, the direct payment from the commercial benefits or subsidy for the therapy expenses. Through the progressive development of a reasonable framework for allocating the benefit, rights, and interests of the biomedicine industry, the benefits gained from the successful commercialization in the industry can be directed to the upstream research institutions and directly provided to the individuals for providing specimens and data required for the research in order to further facilitate the research and development of the biomedicine industry.

However, while adjusting the current mechanism for sharing commercial benefits, it is necessary to pay attention to the ethical and other legal issues. From the viewpoint of upstream research and development institutions, will harming the body and health of individuals as a result of provision of specimens for money or other benefits without the need for examination or therapy constitute a violation of research ethics and medical ethics? If providing participants with a specific proportion of the substantial benefits, as higher commercial benefits are usually found in downstream industries, a carefully designed mechanisms would be necessary to ensure the credible assessment of the final commercial benefits, the benefit sharing for all participants providing biological data in the complete industry chain, and the protection of their privacy. Additionally, the possibility of coordinating the provision of specimens and data and facilitating sharing commercial benefits through a neutral agent in the benefit sharing system; the qualifications, authority, and restrictions of this agent; and the assessment of the level of contribution of individual providers of biological data and the overall equality of benefit sharing to each individual will all be inevitable issues.

Through the consultation and discussion of legislation relating to regenerative therapy in Taiwan, besides ensuring healthcare standard and safety and facilitating the development of the regenerative therapy industry, this paper also hopes to appropriately consider the affordability of the therapies from the viewpoint of current or potential patients in order to develop a legal system that can better fulfill the interests and needs of the complete regenerative therapy industry chain and participants and thereby facilitate the thriving development of Taiwans regenerative therapy technology and industry.

Original post:
Reflection on the Benefit Sharing Mechanism for Providers of Specimens or Biological Data in Regenerative Therapy Research (Taiwan) - Lexology

DetailsCategory: DNA RNA and CellsPublished on Tuesday, 06 September 2022 18:19Hits: 194

CAMBRIDGE, MA, USA I September 06, 2022 I Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that the U.S. Food and Drug Administration (FDA) has removed the clinical hold on SRP-5051 (vesleteplirsen), the Companys investigational, next-generation peptide-conjugated phosphorodiamidate morpholino oligomer (PPMO) to treat patients with Duchenne muscular dystrophy who are amenable to exon 51 skipping. After discussions with FDA and as part of the lift, Sarepta will adjust the global trial protocol to include expandedmonitoringof urine biomarkers.

The hold in Part B of Study 5051-201, also known as MOMENTUM, followed a serious adverse event of hypomagnesemia. Information was provided by the Company to FDA to assess the adequacy of the risk mitigation and safety monitoring plan.

We would like to thank FDA for working closely with us to expeditiously resolve this clinical hold. We will implement the changes in the protocol to resume dosing in the U.S. as quickly as possible, said Louise Rodino-Klapac, Ph.D., executive vice president and chief scientific officer, Sarepta Therapeutics. Our monitoring plan is designed to mitigate the risks of hypomagnesemia. MOMENTUM has continued enrolling participants outside the U.S., and we remain on track to complete enrollment by the end of 2022. Sarepta is committed to the SRP-5051 program and excited about the PPMO platform as a next-generation exon-skipping approach for the treatment of Duchenne.

About SRP-5051 (vesleteplirsen) SRP-5051 is an investigational agent using Sareptas PPMO chemistry and exon-skipping technology to skip exon 51 of the dystrophin gene. SRP-5051 is designed to bind to exon 51 of dystrophin pre-mRNA, resulting in exclusion of this exon during mRNA processing in patients with genetic mutations that are amenable to exon 51 skipping. Exon skipping is intended to allow for production of an internally shortened, functional dystrophin protein. PPMO is Sareptas next-generation chemistry platform designed around a proprietary cell-penetrating peptide conjugated to the PMO backbone, with the goal of increasing tissue penetration, increasing exon skipping, and significantly increasing dystrophin production. Around 13% of DMD patients have mutations that make them amenable to skipping exon 51. If successful, the PPMO offers the potential for improved efficacy and less frequent dosing for patients.

About MOMENTUM (Study SRP-5051-201) MOMENTUM is a Phase 2, multi-arm, ascending dose trial of SRP-5051, infused monthly and will assess dystrophin protein levels in skeletal muscle tissue following SRP-5051 treatment. The trial will enroll up to 60 participants, both ambulant and non-ambulant, between the ages of 7 to 21 at sites in the U.S., Canada, and the European Union. The trial will also assess safety and tolerability.

In 2021, the Company announced results from Part A of MOMENTUM showing that after 12 weeks, 30 mg/kg of SRP-5051 dosed monthly resulted in 18 times the exon skipping and eight times the dystrophin production as eteplirsen, dosed weekly for 24 weeks. Reversible hypomagnesemia was identified in patients taking SRP-5051. The protocol for Part B of MOMENTUM includes magnesium supplementation and monitoring of magnesium levels.

More information can be found on http://www.clinicaltrials.gov.

About Sarepta TherapeuticsSarepta is on an urgent mission: engineer precision genetic medicine for rare diseases that devastate lives and cut futures short. We hold leadership positions in Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophies (LGMDs), and we currently have more than 40 programs in various stages of development. Our vast pipeline is driven by our multi-platform Precision Genetic Medicine Engine in gene therapy, RNA, and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

SOURCE: Sarepta Therapeutics

Read more:
Sarepta Therapeutics Announces That FDA has Lifted its Clinical Hold on SRP-5051 for the Treatment of Duchenne Muscular Dystrophy | DNA RNA and Cells...

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Key Companies Covered in the Global Zellweger Spectrum Disorder Market Research Report by Research Nester are Invitae Corporations, CENTOGENE N.V., GeneDX, LLC, Blueprint Genetics Oy, Siemens Healthcare Gmbh, Carestream Health, Inc., Agfa-Gevaert Group, Shimadzu Corporation, Asper Biogene LLC, Trivitron Healthcare, and other key market players.

New York, Sept. 06, 2022 (GLOBE NEWSWIRE) -- Research Nester has published a detailed market report on Global Zellweger Spectrum Disorder Market for the forecast period, i.e. 2022 2031 which includes the following factors:

Market growth over the forecast period

Detailed regional synopsis

Market segmentation

Growth drivers

Challenges

Key market players and their detailed profiling

Global Zellweger Spectrum Disorder Market Size:

The global Zellweger spectrum disorder market is estimated to grow at a CAGR of ~6% over the forecast period. Peroxisome biogenesis disorders (PBDs), also known as Zellweger spectrum, are rare conditions that are characterized by the body's inability to produce peroxisomes. The 13 PEX genes, which are crucial for the healthy development and operation of peroxisomes, any defect in these genes are the cause of this disease. The growth of the market can be ascribed to the increasing prevalence of the Zellweger spectrum (ZS) disorder in the new borns. It is believed that the PEX1 gene has a mutation that causes ZS in the majority of instances and they affect nearly 1 in 50,000 to 1 in 75,000 babies, along with the other disorders on the Zellweger spectrum. Further, the market for Zellweger spectrum disorders is anticipated to grow over the course of the projected period owing to the increasing screening tests, sophisticated diagnostics for the condition, and rising governments attempts to raise public awareness of rare diseases. It was observed that approximately USD 997 billion is spent on the prevention, diagnosis, treatment, and awareness of rare diseases, of which USD 449 billion goes directly toward medical expenses and around USD 437 billion accounted for indirect medical costs.

Story continues

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Global Zellweger Spectrum Disorder Market: Key Takeaways

European region gains a significant portion of the revenue

Genetic tests segment to gain a substantial share of the revenue graph

Hospitals sub-segment remains prominent in the end-user segment

Increasing Research on Rare Diseases and Growing Spending on Research to Boost Market Growth

ZSD was a rare illness about which little was known. However, because of increasing research spending, clinical knowledge is now improving. This is anticipated to encourage early diagnosis of the condition and is expected to aid in developing suitable treatment strategies. In the end, growth in the global market is estimated to have resulted from all of these factors. For instance, investment in medical and health research and development (R&D) in the United States (U.S.) increased by 11% to around USD245 billion in 2020 from 2019.

In addition to this, healthcare professionals are increasingly interested in conducting aggressive research to find solutions for previously understudied and uncommon diseases includingZellwegerspectrum disorder as they want to be fully ready for any comparable occurrence in the future as the chances of developing diseases in children are increasing. It was noticed that children have a 50% probability of carrying the mutant gene if both parents do. The mutated genes are inherited by a carrier, who doesn't have the illness. The possibility of the disease-transmitting to the kids is 25%. Moreover, there is no known cure for the illness, however, treatments help lessen its symptoms. During the projection period, there is expected to be significant growth in the global market for Zellweger spectrum disorders owing to the ease of access to sophisticated diagnostic tools, natural history research, and improving electronic health records.

For more information in the analysis of this report, visit: https://www.researchnester.com/reports/zellweger-spectrum-disorder-market/4087

Global Zellweger Spectrum Disorder Market: Regional Overview

The global Zellweger spectrum disorder market is segmented into five major regions including North America, Europe, Asia Pacific, Latin America, and the Middle East and Africa region.

Impeccable Research and Healthcare Infrastructure to Drive Growth in the North America Region

The market in North America region is estimated to witness noteworthy growth over the forecast period owing to impeccable research and healthcare infrastructure. There is a system for newborn screening tests, which results in the accessibility of highly advanced diagnostic tools. Additionally, the increasing spending on research and development in the region is predicted to drive market growth during the forecast period. The World Bank reports that in 2020, R&D expenditures in North America totaled 3.32% of its GDP.

Increasing Healthcare Spending to Drive Growth in the Europe Region

On the other hand, the market in the Europe region is expected to grow significantly over the forecast period owing to the increasing efforts for the diagnosis and treatment of the condition. The market for Zellweger spectrum disorders is anticipated to experience considerable expansion in the region during the forecast period as a result of growing clinician vigilance, parental genetic counseling, and increasing healthcare spending. For instance, in 2020, general government spending on health in the EU reached to USD 1 074 billion, or 8.0% of GDP.

Get a Sample PDF of Zellweger Spectrum Disorder Market Report@ https://www.researchnester.com/sample-request-4087

The study further incorporates Y-O-Y growth, demand & supply and forecast future opportunity in:

North America (U.S., Canada)

Europe (U.K., Germany, France, Italy, Spain, Hungary, Belgium, Netherlands & Luxembourg, NORDIC [Finland, Sweden, Norway, Denmark], Poland, Turkey, Russia, Rest of Europe)

Latin America (Brazil, Mexico, Argentina, Rest of Latin America)

Asia-Pacific (China, India, Japan, South Korea, Indonesia, Singapore, Malaysia, Australia, New Zealand, Rest of Asia-Pacific)

Middle East and Africa (Israel, GCC [Saudi Arabia, UAE, Bahrain, Kuwait, Qatar, Oman], North Africa, South Africa, Rest of Middle East and Africa).

Global Zellweger Spectrum Disorder Market, Segmentation by End-User

Out of these, the hospital segment is estimated to hold notable market share over the forecast period owing to rising patient flow in the hospitals. Further, the global market for Zellweger spectrum disorders is anticipated to expand throughout the projected period owing to the increasing spending on healthcare across the globe as a result of doctors' increasing caution and suggestions of tests for the parents. As per the health expenditure report, global health spending has increased overall during the previous 20 years, doubling in real terms, reaching USD 8.5 trillion in 2019 and 9.8% of GDP (up from 8.5% in 2000).

For more insights on the market share of various regions: https://www.researchnester.com/sample-request-4087

Global Zellweger Spectrum Disorder Market, Segmentation by Diagnosis

Blood and Urine Test

Ultrasound

Genetic Tests

Among these, the genetic tests segment is estimated to gain substantial market share over the forecast period as genetic tests look for alterations in DNA, often known as mutations or variations. The medical care a member receives can alter as a result of genetic testing, which has various applications in medicine. Infact, genetic testing helps diagnose a genetic disorder including ZSD, or reveals the risk of contracting rare diseases. Moreover, the higher cost of genetic tests and increasing spending on these tests are predicted to boost the segment growth. For instance, depending on the type and complexity of the test, the price of genetic testing varies from USD100 to more than USD2,000 per test. The price goes up if numerous tests are required to get a significant result or if several family members must be tested.

Global Zellweger Spectrum Disorder Market, Segmentation by Therapy

Pediatrician

Neurologists

Surgeons

Audiologists

Ophthalmologists

Orthopedists

Few of the well-known market leaders in the global Zellweger spectrum disorder market that are profiled by Research Nester are Invitae Corporations, CENTOGENE N.V., GeneDX, LLC, Blueprint Genetics Oy, Siemens Healthcare Gmbh, Carestream Health, Inc., Agfa-Gevaert Group, Shimadzu Corporation, Asper Biogene LLC, Trivitron Healthcare, and others.

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Recent Developments in the Global Zellweger Spectrum Disorder Market

In July 2022, leading medical genetics company Invitae Corporations unveiled a comprehensive plan to maximize the benefits of its genetics platform, which is the best in the business.

In January 2022, the Murdoch Children's Research Institute-led study discovered that it is possible, dependable, and scalable to test babies for three uncommon genetic disorders simultaneously.

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Global Zellweger Spectrum Disorder Market is Predicted to Grow at a CAGR of ~6% During 2022-2031; Increasing Awareness About Rare Diseases and Growing...

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The Phase 2 Altitude study, an open-label, randomized, controlled, dose-escalation evaluation of RGX-314. It was conducted at 18 retina practices nationally and evaluated the efficacy, safety, and tolerability of suprachoroidal delivery of RGX-314 using the SCS Microinjector (Clearside Biomedical) in patients with moderately severe/severe non-proliferative diabetic retinopathy (NPDR) or mild PDR.

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Researchers from Turkey reported that the introduction of white noise and music had a beneficial effect during examinations of preterm infants with retinopathy of prematurity (ROP).

The investigators conducted a 1-year study from August 2020 to August 2021 to determine how white noise and classical music affected pain and physiologic parameters while examining infants with ROP in a neonatal intensive care unit.

Ninety preterm infants were included and evenly and randomly divided into three groups: the control group, the white noise group, and the classical music group.

The infants responses to pain were evaluated using the Premature Infant Pain Profile.

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Visual symptoms after COVID-19 suggest retinal involvement

Retinal involvement following a COVID-19 infection is rare but can happen after severe infections in immunocompetent individuals, according to Dr Yusar Asad and colleagues from the Vitreoretinal Services, Centre for Sight, Delhi, India.

The research team conducted a retrospective review of consecutive patients presenting with retinal manifestations attributable to COVID-19 between May 2020 and June 2021.

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EURETINA 2022 in review: A showcase of retinal revelations in Hamburg - Ophthalmology Times Europe

Results from a study in mice and a small number of men with Down syndrome show gonadotropin-releasing hormone therapy could help improve cognitive function in individuals with the genetic condition.

The authors emphasize that the study is early stage and a larger randomized controlled trial is needed to confirm the findings, but, if validated, the team believes gonadotropin-releasing hormone therapy could help mitigate some of the cognitive issues experienced by individuals with the condition.

Nelly Pitteloud, professor at the Faculty of Biology and Medicine of the University of Lausanne, and colleagues previously investigated links between the reproductive gonadotropin-releasing hormone (GnRH) and Down syndrome.

While the gene for human GnRH (GNRH1) lies on chromosome 8, microRNA that regulate the expression of the hormone are linked with chromosome 21 and this microRNA is dysfunctional in people with Down syndrome. This may explain why people with Down syndrome often have olfactory, reproductive and cognitive defects similar to those with low levels of GnRH.

In this study, which was published in Science, Pitteloud and colleagues first studied a mouse model of Down syndrome in detail and observed that hypothalamic GnRH-expressing neurons did not develop normally and the mice had cognitive, olfactory and reproductive abnormalities.

When a key GnRH regulating microRNA was introduced to the adult mice with these symptoms, GnRH neurons began to function again and symptoms were reduced.

Based on the mouse studies, the team carried out a small pilot study in 7 men with Down syndrome to test the effects of pulsatile treatment (pulsed to mimic natural expression of the hormone) with GnRH hormone. This type of treatment is currently used to treat individuals with GnRH-related conditions such as Kallman syndrome.

In this group, 6 months of the treatment appeared to result in significant improvements in cognitive ability and functional brain connectivity, although no notable effects on olfaction were observed.

In Down syndrome, pulsatile GnRH therapy is looking promising, especially as it is an existing treatment with no significant side effects, notes Pitteloud, in a press statement. However, to be confirmed, a randomized control trial in both men and women with the condition is needed, say the authors.

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Hormone Therapy Shows Promise for Treating Cognitive Symptoms in Down Syndrome - Inside Precision Medicine