Rare Disease Data Trust

The rare disease diagnostic odyssey, which averages 5-8 years for EVERY rare disease patient (30 million US), involves massive waste in resources, all while the patient progresses painfully and often irreversibly with a limited therapeutic window. As well this ubiquitous problem has not changed in 40 years of the ODA despite the amazing growth of the sector. Henri Termeer rightfully stated "that for the rare disease sector to be successful the therapies that breakthrough to FDA approval have to be commercially successful".  Like it or not, it is the value of these patients (created by the ODA) that has brought innovation and progress within this sector. The heart of the commercial sector is "find, treat, keep", this is the path to commercial success, yet "find" is a huge problem, with few solutions and filled with regulatory restrictions and compliance landmines.  We solve the diagnostic odyssey problem, by leveraging the commercial value of the marketplace for the diagnostic benefit of the patient.  We do this with amazing technology, that works at the speed of light, and proprietary technologies that allow us to engage private healthcare data in a compliant and efficient way. This solution scales rapidly, searches thoroughly and is driven by a first to market economic engine/model that is compelling healthcare operators to make rare disease patient care the priority is must be to be successful for the patient!

RDDT: A compliant commercial solution to the rare disease diagnostic odyssey problem (2.5 min white board video, illustrating our solution) https://vimeo.com/630091513?sh... and https://vimeo.com/690700865?sh...

We have developed a compliant and powerful commercial business model to solve the recalcitrant rare disease diagnostic odyssey problem! We have discovered a patient safe harbor that permits RDDT to function as a compliant neutral intermediary that resides between manufacturers and providers to do solve this rare disease diagnostic problem by creating a collaborative solution for healthcare which amounts to the creation of a new service line built on the beach head of proactive rare disease diagnostic initiatives, sponsored by manufacturers, executed by RDDT and serving providers, using their own data to proactively search for suspect undiagnosed rare disease patients, in order to accelerate them to an early and accurate diagnosis. 

We (RDDT) build and train rare disease state specific diagnostic AI search models, those AI search models may be compliantly sponsored by manufacturers to be deployed by RDDT into provider partnered robust and actionable data sets. These disease state specific search models can easily and quickly find suspect isolate lost and undiagnosed rare disease patients and select them for a streamlined confirmatory triage and testing process under the care and direction of their own providers, assisted by RDDT, in order to accelerate those patients to an early and accurate diagnosis and disrupt their too typical diagnostic odyssey. This search and triage process is driven by compliant fees paid by RDDT to our provider data partners, thus creating a new and substantive healthcare service line, making rare disease diagnostics the priority it must be to be impactful. 

RDDT focus is community healthcare where these diagnostic odysseys begin, where the awareness and diagnostic skill is at it lowest and where 70% of patients receive their healthcare. 

RDDT: How we work with provider groups (2.5min white board) https://vimeo.com/630091513?sh...

Patients, 1 in 10 people have a rare disease, or statistically 10% of any patient population, across 10k rare diseases, representing 30+ million patients in the US. This is who our business model serves primarily, by disrupting their typical 5-8 year diagnostic odyssey. 

Providers, 10k+ rare diseases are outside of scope, knowledge and experience of most providers, and thus they most often do not recognize the curious constellation of symptoms that are often quite suggestive and frequently missed. Rare disease is such that if you aren't looking for it, you are unlikely to find it. Yet the patient record and thus the data are pregnant with rich and definitive biomarkers that can be discovered along with patterns of presentation that are so synonymous with rare diseases. 

Healthcare's most significant asset is their data, currently healthcare has awoken to this reality and is seeking provider and patient centric manners in which to use it. This asset as a whole is under utilized, under analyzed, under optimized and under monetized, this reality is changing quickly and we seek to leverage it for the benefit of the undiagnosed rare disease patient. 

Manufacturers, the commercial rare disease game is "find, treat, keep" and the find problem is a big and risky problem for these organizations. First manufacturers spend spend on average $1billion in development on a single asset, over a decade in time, with an 80% failure rate, to breakthrough to FDA approval and commercialization. When those 20% who do receive FDA approval, likely at least half of their target patient market is lost in a diagnostic odyssey. As Henri Termeer stated clearly, in order for the rare disease sector to be successful, these commercialized therapies must be successful! Current commercial solutions are very limited, expensive and have little impact! Yet the time clock (7 years) is ticking and often competition is close on their heels, so the rate and pace of market penetration is critically important. Many commercial organizations struggle after the first 18 months to impact the marketplace and grow the business through new patients. This lack of commercial optimization leads to internal conflict, turnover of leadership, resetting of the same strategy and under performance. Commercial mediocrity or failure leads to a decrease in investment in research and development. Where as, commercial success leads to exploration and investment. 

The best current solution for manufacturers is a headcount heavy commercial team tasked with educating providers in mass in hopes of driving awareness and diagnosis and of course ultimately utilization. This initiative is focused on "reach and frequency" of contact with key providers. Reach equals how many providers can you speak with and frequency is how many times can you speak with them. This strategy is out dated and really has never worked in rare disease. Providers are increasingly difficult to get quality time with and that was before the covid pandemic, which has exacerbated provider access issues. So much so, I would contend that as much as 70% of the industry's reported "calls on providers" are in fact ghost call (never happened). In addition to this very inefficient, expensive and ineffective strategy, manufacturers spend tens of millions on high speculative strategies like medical educational webinars, facebook and instagram ads, tv commercials and other ridiculous attempts at increasing awareness and diagnosis. The stark reality is that commercialization process for rare disease therapies is pure chaos and highly inefficient, filled with compliance land mines and unmet forecast compounded by a needlessly lost and undiagnosed marketplace. Manufacturers who are prohibited from providing any incentive to healthcare to do anything, even what is in the best interest of the patient is strictly prohibited (AKS). So manufacturers are left to only create a marketplace noise level in hopes of marketplace impact. It doesn't work very well and patients suffer needlessly as a result.

RDDT is HQ'd in Nashville, TN, the Silicon Valley of community healthcare as 8 of the top 12 systems are HQ'd in Nashville. The web that originates from Nashville extends to very healthcare community in the US. 

Furthermore, RDDT alone has discovered the compliant pathway and technology to do what healthcare never will do on their own, and what manufacturers are legally prohibited from doing.  We have developed the AI platform, and tools to deploy these search models into providers secure environments to find suspect patients without divulging PHI. Nobody has our technology stack and are likely year behind us in development. 

We are rare disease commercial experts, with a combined 41 years in rare disease commercial biotech, commercializing 14 ultra rare disease therapies. We know the limits and needs of therapeutic commercialization process and how to reform and renew it with our powerful solution bringing new efficiencies to this desperate and underserved sector. Henri Termeer also said, "what is good for the patient, is good for business" and he was right! By driving diagnosis of new patients, manufacturers can develop a marketplace that is out of reach and serve the patient in a profound and patient centric way. 

We are a commercially ready and active solution in healthcare. We close a significant care gap for providers (rare disease suspect patient discovery and diagnosis), we bring a new and substantive revenue stream to healthcare commiserate with the innate value of healthcare's proprietary data sets. (Providers are the only entity consented by the patient to anything on behalf of the patient with their health data).  We are a new pathway for manufacturers to indirectly develop small and lost marketplaces for the primary benefit of the patient. We need only public exposure that would come with the Horizon prize and would use new resources to increase awareness of a much better way to serve patients and commercialize therapies. For example, Horizon Therapeutics has been a difficult ivory tower to penetrate, perhaps I could get an meeting with Horizon's leadership if we win their innovation prize. I personally spent 22 years commercializing 8 ultra rare disease therapies in the US, and I know the profound limits and frustrations around diagnostic initiatives in the space, and we solve them. Sometimes it only requires the proper person to learn of a new innovation to usher in change and progress in the sector. 

David spent 32 years in Biotech and 22 years which was in rare disease, commercializing eight ultra rare disease therapies across six companies. I met thousands of providers overwhelmed and unprepared for their rare disease patient population. I met hundreds of patients with gut wrenching stories of diagnostic odysseys, exploratory surgeries, mis-diagnosis, missed therapeutic windows, and unnecessary suffering. Imagine having a rare genetic disease, searching for help and being accused of not taking your medicine, or being psychosomatic or a drug seeker. This is the norm in the US healthcare system. I worked with hundreds of peers frustrated by the disfunction in the commercial process. I have seen companies and careers rise and fall on the outcome of a commercialization process that is rendered uncertain and often under performing, because likely most of your targeted patient population is undiagnosed and lost in healthcare. Worst, nobody in healthcare (who can) are proactively looking for undiagnosed patients. Healthcare has neither the time tools or incentive to do so. Yet highly suspect patients are not even difficult to find if one only looked. Today is a new day! The absolutely best way to serve rare disease patients is to accelerate patients to an early and accurate diagnosis and appropriate care. Imagine a future, with hundreds of disease state AI search models, continuously surveilling data, alerting providers to suspect patients and guiding them through a rapid triage to a definitive diagnostic outcome. 

Innovative, because we found the key hole through the minefield of compliance to create a compliant commercial solution to a profound marketplace problem, accompanied by an economic platform that will drive adoption by healthcare and deliver intervention for rare disease patients. The genius of the ODA, was the federal government turned small volume into high value, and that is why we have a rare disease marketplace that did $164 Billion in 2022. RDDT seeks to have a similar impact on healthcare. Healthcare operationally is patient volume biased, and it is no surprise that small and complex patients receive poor diagnostic care. RDDT however establishes a new sector in healthcare and is able to fiscally deliver to healthcare a profound new revenue stream associated with data access. We can operate within a patient safe harbor which empowers our solution. Add a mature AI platform and many other proprietary technological properties, that allows us to deploy search models remotely into your own secure environment in less than 30 days, and our innovation is off the charts. 

Sustainable because rare disease patients are the most valuable patients in healthcare, they just aren't valuable to healthcare. However our solution changes all of that and one thing healthcare is interested in is a no capx, no opx, clinically elevating, care gap closing, high revenue generating, patient centric solutions. Also, manufacturers will be able to be much more strategic and efficient in their diagnostic initiative spending and disease awareness initiatives. Furthermore our solution is transparent and accountable to outcomes, so a clear roi will always be evident. What is good for the patient is good for business in rare disease. 

Data is the most valuable asset in the world right now. The most valuable data is healthcare data, the most valuable healthcare data is the US healthcare data. There are lots of data sets, but they can be divided into two buckets, identified and de-identified data. Because of HIPAA laws the only data set in which the patient can be identified, is provider owned data. Only if the patient can be identified can a provider take action, and only solutions connected to this type of data can drive clinical impact for the benefit of the patient. so thus the most valuable US healthcare data is provider owned and connected (identifiable) data. Ipso facto, only the patient's provider is consented to identify the patient and take action on behalf of the patient, using their existing patient data. Provider's data alone holds the key, because their data is the only data that the patient has consented anyone to do anything with.  Connected and clinically actionable data! 

We currently have two health systems and four provider groups totally (11 million patient lives) currently on our platform, we look to add another 50 million patient lives in the next 18 months. 

We currently have 4 manufacturers who have sponsored disease state AI search model builds and training and are actively deploying those into healthcare to look for suspect lost and undiagnosed targeted rare disease patients. We look to expand that number to <12 in the next year. 

Our ultimate impact goal is to end the rare disease diagnostic odyssey and accelerate the entire marketplace to include research and development, patient registries, and appropriate care.

# of Suspect Isolates that result in a positive diagnosis

# of patients rescued from a diagnostic odyssey

Accuracy of AI disease search models (positive vs. negative)

Suspect Isolate triage success rate

# of disease state search models in development & deployment

# of patient lives on platform

# of provider data partners

# of active disease state search sponsors

The entire development of the rare disease sector is hindered by the diagnostic odyssey problem. From clinical trial enrollment to registry to care. Rare disease by its nature is small and complex but resides within a system build for volume and profit. To discover a compliant model to deliver to healthcare a new service line with robust revenues as well as solve the commercial odyssey problem that has plagued manufacturers will accelerate the entire sector and speed patients to both diagnosis and appropriate care. This would be revolutionary impact on the sector and would directly benefit patients. 

Healthcare's "for profit" operational model is volume and profit biased, rare disease patient care is complex, time consuming and has a low ROI for healthcare operators. Rare disesease is thus, a low priority and given the diversity and variability even within a single rare disease, it will NEVER be an operational priority in healthcare. See the recent NORD 30 year report, where despite the exponential growth of the rare disease sector ($164B in 2022), the diagnostic odyssey problem has not change or even improved. Nobody is connecting the dots on these patients because nobody is even looking for the dots in the data. 

Currently there are multiple transformative marketplace revolutions that have made this point and time in history unique and filled with great promise to solve BIG problems in healthcare. First, almost all healthcare data has moved to the "cloud" and is easily organized and accessed now. This data is underutilized, under analyzed, under optimized and under monetized. That is all changing rapidly, particularly as "for profit" healthcare has realized that have a monumentally valuable asset and is looking for provider and patient centric ways to put that data to work to solve clinical problems and generate new and significant revenue for said healthcare.  Two, technology advancements, the chief of which is AI & machine learning capacity for rapid analytics and finding needle in haystack patient populations is in fact easy and simple to find highly suspicious patients with clinical findings consistent with the presentation of a specific rare disease. 

We (RDDT) have found a compliant pathway to operate within a "safe harbor" to permit commercially sponsored AI searches for lost and undiagnosed patients within healthcare.  By creating a new and substantive service line built on systemic diagnostic efforts in collaboration with patients' providers and accompanying that service line with a new and substantive revenue stream that will rank in their (top 5) for revenue. This will change landscape for rare disease and this will solve the diagnostic odyssey problem. 

Mature AI platform, that has been exclusively trained on healthcare data for seven years. Multiple proprietary Technologies that empower us to execute this all in our provider partners secure data environments (we do not ingest data) and work entirely with de-identified data despite our BAA relationship with the provider group, that would allow it, we don't need it. We create a master patient index that permits us to compliantly identify suspect patients to our partners, without having any PHI. We need <30 days to interface with a systems data (cloud based) and begin to deliver value. 

7 FTE

3 PTE

5 Contract

4 years

We look for people in which talent meets passion for our vision, not orientations of color, gender or other. 

Manufacturers sponsor disease state search model build and training for $500k to RDDT

Manufacturers sponsor deployment of RDDT owned search models into partnered provider data ($1 -$7) per patient life searched to RDDT

RDDT pays provider partners for lives searched and success fee tied to the successful triage of suspect isolates. 

Once of the reasons the orphan disease act as been so successful at creating a marketplace that didn't exist to one that does $164 billion in revenue annually, which is forecasted to go 3x by 2030, is the nature of small being big (financially), if this ODA reality didn't exist we wouldn't have seen the amazing growth and progress that has taken us to where we are today. RDDT has created this same phenomena within healthcare, making small important by making it lucrative. Our model does just that and the beauty of a capitalist healthcare system is that when incentives are aligned change can come quickly, and big problems solved. The revenues for RDDT are instant and substantive and it will be easily sustainable because of the economics.

Raised $725k from 02/20 to present. We opened a series A this year to commercialize the company and are currently revenue positive and self-sustaining.