Alkaptonuria

The partnership, announced today (January 18) will make NITYR (nitisinone) tablets available for eligible patients in the UK with Hereditary Tyrosinemia Type 1 (HT-1) and Alkaptonuria (AKU). A Free Goods Programme is a compliant way for medicines that are not approved in their country of intended use to be made available for patients who either have no alternative treatment option or have exhausted all other treatment options available in their country of residence. Stuart Bell, senior vice president, Inceptua early access said: “Inceptua is proud to partner with Cycle in this Free Goods Programme to allow access to NITYR to a broader number of countries and patients. Cycle’s ethos around medicine provision aligns very closely to those of Inceptua’s, and we look forward to supporting patients with no other treatment options for these devastating diseases.” Rare genetic condition Ht-1 is a very rare genetic condition. It prevents the body from breaking down a substance called tyrosine found in food. This leads to the build-up of toxic levels of substances in the blood. If left untreated, TYR1 can damage the liver, kidneys, and the nervous system. The NHS describes AKU, or black urine disease, as a very rare inherited disorder that prevents the body fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. It results in a build-up of a chemical called homogentisic acid in the body. This can turn urine and parts of the body a dark color and lead to a range of health problems over time. googletag.cmd.push(function () { googletag.display('text-ad1'); }); Cycle has an existing Free Goods Program with patients with HT-1 in India, Bangladesh, Pakistan, and Sudan. Inceptua will support Cycle through the expansion of the Free Goods Programme to include further countries where NITYR is not commercially available, or where the local healthcare system is unable to afford this medication. Countries in scope of the NITYR Free Goods Programme include Argentina, Bangladesh, Brazil, Chile, Colombia, Dominican Republic, Jordan, Mexico, Nigeria, Pakistan, Peru, Tunisia, and Turkey. Cycle says it is committed to supporting patients on the Free Goods Programme for the duration of their lifetime. Proud and humbled James Harrison, CEO of Cycle Pharmaceuticals said: “Right from the beginning of Cycle’s story in 2012, we made a commitment to provide a Free Goods Programme for rare disease patients that cannot otherwise access our medicines.  The whole Cycle team is extremely proud and humbled to be able to expand the NITYR Free Goods Programme. It really matters.” In its research, the companies found that HT-1 affects about 1 in 100,000 individuals worldwide, whilst AKU affects 1 in 250,000 to 1 million people worldwide. NITYR (nitisinone) tablets are a competitive inhibitor of 4-hydroxyphenyl-pyruvate dioxygenase indicated for the treatment of adult and pediatric patients with HT-1 in combination with dietary restriction of tyrosine and phenylalanine. NITYR has been approved for use by the FDA, Health Canada, EMA, MHRA and TGA.

Personalized nutrition has made remarkable progress, moving from a concept to a tangible reality with significant potential to improve individual health and well-being. This innovative approach focuses on tailoring nutritional strategies to the unique needs and preferences of each individual, moving away from the traditional one-size-fits-all approach. This article explores the significance of the innovative personalized nutrition approach and its ability to successfully implement personalized nutrition principles on a widespread scale. Understanding personalized nutrition Personalized nutrition incorporates factors such as physical activity, habits and behaviors, environmental exposures, continuous metabolite monitoring (continuous glucose monitoring), and continuous health-parameter monitoring (like heart rate and blood pressure). The overarching goal is to mitigate the risk of diet-related diseases by providing tailored dietary recommendations based on comprehensive data analysis, as well as managing existing chronic conditions. The additional elements involved in the personalized nutrition approach can be analyzed using machine learning algorithms and artificial intelligence to propose precise diets most suitable for individuals at specific stages and circumstances of their lives. However, it is worth noting that manual analysis is still prevalent, posing challenges in terms of scalability and application to the wider population. By leveraging algorithms to process information about the relationships between various factors and metabolic responses, medical doctors (MDs) and registered dietitian nutritionists (RDNs) can uncover predictions and correlations that traditional methods of analysis may not. This exciting new wave of personalized nutrition represents the convergence of nutrition science and data science. Personalized nutrition algorithms act as roadmaps in the form of decision trees. They guide nutritionists through a logical sequence of steps, starting from specific physical and genetic traits, and help them make clear suggestions on adjusting our nutrient intake. By taking into account individual traits and genetic differences, these algorithms can offer personalized recommendations that are specifically designed for our unique requirements and how our bodies respond. The idea of personalized nutrition has been on the surface for some time and has been recognized to be effective. For instance, in 1908, Sir Archibald Garrod classified alkaptonuria as a “hereditary error of metabolism,” paving the way for a groundbreaking concept in personalized medicine. This important milestone demonstrated the connection between genetic factors and metabolic disorders, opening new avenues for targeted dietary interventions. In addition, the discovery of phenylketonuria (PKU) in 1934, a condition that affects how the body processes phenylalanine, has provided valuable insights into the complex connection between nutrients, diet, and human well-being. Precision nutrition vs. personalized nutrition Although personalized nutrition and precision nutrition are two closely related concepts, they do differ in the assessed factors. Precision nutrition focuses on using scientific data, biomarkers, and genetic information to provide targeted and precise nutritional recommendations. It emphasizes tailoring nutrition based on individual genetic variations and biological markers. Personalized nutrition, on the other hand, focuses on data collected from clients. Customized plans for specific dietary needs can be created by considering specific genetic traits related to how nutrients are processed in the body. For example, someone can have a predisposition to lactose intolerance and may benefit from avoiding or reducing lactose intake. Moreover, nutrigenomics and epigenetics are important areas of precision nutrition that explore how our genes and their interactions with the environment, including diet, can influence our health and well-being. Meanwhile, personalized nutrition encompasses a broader range of factors beyond genetics. It integrates multiple sources of information, such as age, gender, body composition, medical history, dietary habits, and cultural background, to develop tailored nutrition plans. Personalized nutrition survey If we truly want to get the most out of our nutrition, we need to consider nutritionists’ work and if they do turn to personalized nutrition recommendations. To review how personalized nutrition is used by nutritionists today, I conducted a survey involving 500+ nutritionists and healthcare professionals. The data showed that 46.5% of dietitians most often use personalized nutrition principles in their daily practice. In addition, 42.72% of them have created at least one nutrition program based on advanced phenotypic and epigenetic data, and 43.09% are very confident in their knowledge of personalized or precision nutrition. The survey also revealed that when creating a personalized nutrition program, the most used patient data includes: Food allergy test (56.34%) Other health conditions (such as hypercholesterolemia, hypertension, gout, etc.) (53.73%) Current nutrition habits, including hydration (71.08%) Lifestyle factors (58.20%) Fitness levels (62.50%) The least used patient data includes: Social behavior (27.05%) Data from personal lifestyle devices (27.61%) Genetics and genomic data (30.22%) Questionnaires (30.59%) Phenotypic information on anthropometry (31.15%) Screening for genetic disease (32.27%) Personalized digital health platforms and tools The primary goal of personalized digital health platforms is to empower individuals to take an active role in managing their nutrition. These platforms provide personalized guidance, educational resources, and monitoring tools to support this process. By leveraging technology, data analytics, and user-friendly interfaces, including AI-powered solutions, these platforms deliver personalized health information, dietary recommendations, and tracking capabilities. This integration of AI enables individuals to make well-informed choices, accurately monitor their progress, and actively participate in managing their nutrition. According to the personalized nutrition survey, nutritionists, on the other hand, utilize advanced/specialized data analysis tools (such as Nutritics, NutriAdmin, and similar) for analyzing the data. The survey revealed that 60.82% of nutritionists mostly rely on these tools for data analysis. Challenges While personalized nutrition shows promising results and is an advanced approach to diet and nutrition, it still faces certain challenges. One challenge is accessibility, as it often requires specialized healthcare professionals, which may limit its availability. Additionally, the cost of personalized nutrition services can be competitive, and potential customers need to be open to understanding and accepting new approaches to nutrition. The biggest challenge in nutrition, however, is how to effectively apply healthy eating and lifestyle habits to improve the health of each individual on a larger scale. It becomes time-consuming. Moreover, using machine learning to analyze patient data can raise privacy concerns. Machine learning strategies involve the analysis of large amounts of personal data and can raise questions about how personal information is stored and used. Summary In the future, research in personalized nutrition needs to focus on understanding the role of nutrition throughout the entire lifespan and address diet-related conditions through comprehensive interventions that go beyond simply choosing healthy foods. This means considering various aspects of an individual’s life and implementing multifaceted approaches to promote overall well-being. The next step would be to incorporate the precision nutrition approach, which would enhance our understanding of patient data and enable us to create a personalized approach with even greater efficiency. Personalized and precision nutrition is the future of nutrition science. The integration of AI and machine learning techniques will provide opportunities we have never had before. Given the immense potential, it’s crucial to direct attention and investments toward the field of personalized and precision nutrition. This will foster innovation and drive progress in healthcare.

Alkaptonuria: Rare Form of Disease Shows Major Symptoms in Adulthood Alkaptonuria is a rare form of a genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. This disease is also called black urine disease or black bone disease. Affected people may have dark urine or urine that turns black when exposed to air. However, this change may not occur for several hours after urination and often goes unnoticed. Read Report Overview - Black urine is main symptom in this disease which is present from birth. However, more symptoms can be observed in adulthood. The disorder is caused by mutation of the homogentisate 1, 2-dioxygenase (HGD) gene. Symptoms of this disease include ochronosis, eye sclera discoloration, tendonitis, and long-standing conditions leading to arthritis No medications are known to be useful in managing alkaptonuria. However, symptomatic relief can be provided by different classes of drugs. Also, several drugs are in investigational phase for the treatment of alkaptonuria. Request Brochure of Report - Key Drivers and Restraints of Global Alkaptonuria Drugs Market Increase in new reported cases of alkaptonuria is the major factor responsible for the growth of the global alkaptonuria drugs market For instance, according to an article published in the Journal of Rare Diseases on December 2013, the worldwide prevalence of alkaptonuria is 1 case in 250,000–1,000,000 births and total 950 alkaptonuria patients was identified in 40 countries by the end of 2013 Rise in awareness about alkaptonuria disease and clinical investigational therapies for the disease are some of the major factors fuelling the growth of the global alkaptonuria market Patient assistance programs and different support programs in terms of treatment and research run by different organizations for alkaptonuria have further contributed to the growth of the global alkaptonuria drugs market Ineffective Treatment Methods Hamper Market Growth Not much medications are available which can be fully described as effective options for the treatment for alkaptonuria. This unavailability of effective treatment options is hampering the market growth. Inadequate knowledge of the disease in some developing countries can also restrain the market growth Request for Analysis of COVID-19 Impact on Alkaptonuria Drugs Market - Enzyme Inhibitors - Highly Promising Drug Segment Based on drug class, the global alkaptonuria drugs market can be divided into vitamins, enzyme Inhibitors, and others Enzyme inhibitors include mainly Nitisinone which is a highly promising drug candidate for the treatment of alkaptonuria. This segment is anticipated to be a highly lucrative segment in the next few years due to ongoing clinical trials and availability of branded and generic options in this category. Vitamin C (ascorbic acid) is the major vitamin used for various metabolic processes. Mild antioxidant nature of vitamin C helps to retard the process of conversion of homogentisate to the polymeric material that is deposited in cartilaginous tissues. Oral Route of Administration Dominated Global Market In terms of route of administration, the global alkaptonuria drugs market can be bifurcated into oral and injectable Oral route of administration dominated the global alkaptonuria drugs market due to accurate unit dosage forms by tablets & capsules in adults and higher preference in children for suspension Request for Custom Research - Online Pharmacies to be Promising Segment On the basis of distribution channel, the global alkaptonuria drugs market is classified into hospital pharmacies, retail pharmacies, and online pharmacies Easy availability of branded as well as generic drugs and easy access to retail pharmacies are some of the major factors responsible for the dominance of the retail pharmacies segment The online pharmacies segment is expected to be a highly lucrative segment during the forecast period due to rise in preference of online purchase by people and better discounted rates available at these stores. North America to Lead Global Alkaptonuria Drugs Market In terms of region, the global alkaptonuria drugs market can be divided into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa Europe dominated the global alkaptonuria drugs market in 2018 due to higher number of reported cases of alkaptonuria in the region, ongoing clinical trials, and better awareness regarding disease & its management For instance, according to an article published in the Journal of Rare Diseases on December 2013, total 206 patients in Slovakia and 90 patients in Germany were identified for alkaptonuria by the end of 2013 Asia Pacific is anticipated to be a lucrative market for alkaptonuria drugs during the forecast period due to higher alkaptonuria patient population in some countries such as India, growing awareness of disease, and rise in focus and presence of companies in the region due to major market opportunities in this region Pre Book Alkaptonuria Drugs Market Report at