23 Of 100 Ultra Rare Disease Patients Found Amplity

Specializing in interpreting complex scientific data and research findings — our MSLs effectively communicate critical messages to providers, ensuring they have the latest information on medications, treatments, and therapeutic areas. They play a pivotal role in bridging the gap between our clients and the healthcare community from day one. Their unmatched strategy and expertise are enhanced further by Amplity’s unparalleled database + tech platform. AskX, our proprietary AI tool powers our MSLs by delivering unique, real-time insights as they emerge — not just at quarterly reviews. An independent set of eyes and ears on your trial, our CTLs boost patient enrollment and accelerate trial completion. We are not a clinical research organization — instead, our CTLs bridge the gap between clinical research associates and CROs.

By helping coordinate, communicate and troubleshoot, they make sure our clients spot issues early on. Our CTLs operate across the globe, bringing unparalleled scientific expertise and strong communication skills to your team. They are matched by our forward looking project management teams who prioritize ongoing site communication, patient enrollment and scientific discussion, making your trial top of mind for appropriate patients and HCPs. Experts in the science of diagnostics for precision medicine, our PMLs and Laboratory Science Liaisons (LSLs) pave the way for patients to access innovative therapies through testing. In today’s competitive market, HCP targeting is vital to help sales leaders identify rare disease patients faster. Pharma sales leaders dream of a healthcare landscape where patients with rare diseases are diagnosed early, so sales reps and HCPs can step in quickly to start treatment.

But for patients with rare diseases, the reality is often a long, frustrating journey—multiple doctor visits, misdiagnoses, unclear test results, and countless setbacks before they finally get the right diagnosis. According to a study published by the National Organization for Rare Disorders (NORD), an estimated 30 million, or 1 in 10, individuals of all races, ethnicities and backgrounds in the United States are a­ffected... Unfortunately, it typically takes 6 to 9 years from symptom onset to an accurate diagnosis. This lag between symptoms and diagnosis means HCP targeting strategies often lack the intel needed to find HCPs treating rare disease patients sooner. For sales leaders, these delays reduce market opportunities, impact patient access to treatments, and slow the rate of product adoption. The good news?

New AI-driven tools are helping to overcome these obstacles and accelerate treatment—but more on that later. Pharma sales teams have long struggled with HCP targeting approaches, and it’s even more challenging when dealing with rare diseases. For example, most sales territories involve small, scattered patient populations whose symptoms often overlap with more common diseases. Because of this, traditional strategies like broad provider outreach, KOL engagement, and large field teams just don’t cut it. In fact, most HCPs might never even see an eligible patient. The result?

Wasted time and lost revenue. Claims and prescribing data are another avenue pharma sales teams use to inform sales strategies. Claims data include ICD-10 diagnosis codes, treatment details and costs, while prescribing data include which drugs prescribed, by which HCP, in what volume, and in what geographical region. While seemingly a gold mine of information, these traditional datasets suffer from the realities of diagnosis: Rare disease patients are often miscoded, misdiagnosed, or diagnosed so late that the window for effective treatment has... In some cases, rare diseases are so newly identified that ICD codes or claims data may not even exist yet, further complicating the process of identifying and treating these patients. We are currently helping one of the rising stars in ultra-rare disease treatment spread the word about an illness and its treatment options.

Here’s how our clinical nurse educators make a difference every day: * Educate patients and HCPs: We work closely with patients to help them understand their condition and their therapeutic options. If they are on therapy, we coach them to stay on therapy. * Encourage family variant testing: because this disease is hereditary and autosomal dominant, family members can be carriers. We encourage family members to get genetic testing. With our help, the company achieved an 156% increase in family variant testing. * Build Community Awareness: We raise awareness in the rare disease community and amongst HCPs about the condition, surfacing patients who could qualify for testing.

If you are at a specialty pharma company and wonder how clinical nurse educators can help, we’d love to hear from you. Meanwhile, read the full case study: https://lnkd.in/g9MNkK9s #casestudy #raredisease #genetictesting #specialtypharma #genomics #biopharma This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). At the dawn of the personalized medicine era, the number of rare diseases has been estimated at 10,000. By considering the influence of environmental factors together with genetic variations and our improved diagnostic capabilities, an assessment suggests a considerably larger number. The majority would be extremely rare, and hence, we introduce the term “hyper-rare,” defined as affecting <1/108 individuals.

Such disorders would potentially outnumber all currently known rare diseases. Because autosomal recessive disorders are likely concentrated in consanguineous populations, and rare toxicities in rural areas, establishing their existence necessitates a greater reach than is currently viable. Moreover, the randomness of X-linked and gain-of-function mutations greatly compound this challenge. However, whether concurrent diseases actually cause a distinct illness will depend on if their pathological mechanisms interact (phenotype conversion) or not (phenotype maintenance). The hyper-rare disease concept will be important in precision medicine with improved diagnosis and treatment of rare disease patients. Subject areas: Health sciences, Clinical genetics, Human genetics, Biological sciences, Genetics Disease

Health sciences, Clinical genetics, Human genetics, Biological sciences, Genetics, Disease The total number of diseases is a topic that has been frequently discussed. Recently, in a commentary entitled “Why rare disease needs precision medicine—and why precision medicine needs rare disease” (Might and Crouse, 2022), the authors stated the figure of 10,000 rare diseases citing Haendel et al. (2020). A crucial aspect is the definition of the term disease, and because this is a complex issue itself, we refer to publications specifically deciphering this topic (Boorse, 1977, 2014; Schwartz, 2014; Scully, 2004; Tikkinen... Although the number of 10,000 is practical for many purposes (Haendel et al., 2020), we believe that it is a gross underestimate when considering the number of potential diseases.

There are two primary reasons: First, diseases depend on our ability to define and distinguish them, which will continually increase with our understanding and capacity to diagnose them (Smedley et al., 2021; Chong et... Second, disease can be influenced or caused by a myriad of factors including infections, allergens, physical insults, toxins, environmental conditions, such as altitude or humidity, as well as both inherited and acquired genetic variants... Even if rare diseases are, by definition, scarce, together they have been estimated to constitute as much as 1/10 of all human illnesses (Haendel et al., 2020). The British National Health Service lists 322 common diseases, while the Human Phenotype Ontology derived the number 3,145 by manual selection from a total of 4,620 unique entries comprised of medical subject headings Category... These estimates are considerably lower than the 10,000 estimated rare diseases (https://www.nhsinform.scot/illnesses-and-conditions/a-to-z; Groza et al., 2015; Tudor Groza, pers commun). Such a number is always dependent on the definition of “disease,” but we do not believe that the total number of common disorders exceeds the proposed figure for rare diseases.

Comprehensive data on the rarest genetic disorders affecting fewer than 1 in 50,000 individuals worldwide Ultra-rare diseases represent the most challenging medical frontier – Conditions affecting fewer than 1 in 50,000 individuals constitute a substantial subset of rare diseases, with most lacking approved treatments and many going undiagnosed for... Diagnostic delays impose devastating costs on families – The average diagnostic odyssey lasts 5-7 years, during which families collect conflicting opinions and hit dead ends while their conditions progress untreated Treatment options remain critically limited – Only 5-7% of rare diseases have FDA-approved treatments, leaving 95% of patients told "there's nothing we can do" despite proven therapeutic platforms now existing Genetic testing transforms diagnosis but requires expert interpretation – While whole exome sequencing achieves 25-50% diagnostic rates in suspected cases, interpreting variants of uncertain significance remains a significant challenge requiring specialized expertise

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