Rare Diseases
From Clinic to Launch to Lifecycle Management
We really understand rare diseaseThe Science, the Regulatory, Medical and Commercial Pathways and the Patients
The science of genetic-based rare diseases is our passion, in our genes, we speak the language, know the markets and are a leading clinical and commercial catalyst, accelerating the path from clinical to patient impact.
With the world’s leading scientists on board (>400 publications), subrosa OmicsAI has unparalleled relationships with KOLs and regulatory authorities (Scientific expert to the FDA and EMA) and access to most stakeholders of regional and local ecosystems across the globe. Backed by our proprietary global genome database of 600,000+ rare disease patients incl. retrospective, standardized clinical data we are able to evaluate, validate and publish the REAL prevalence, incidence and market size of a rare disease indication.
We recruit patients where no other organization can find them, years earlier than today’s standards, secure their treatment, their adherence and supply them even if the drug is not authorized in a market. We also push into areas where it’s genuinely difficult: to help patients with “advanced” ultra‑rare (<1:500k, normally<1:50/100k) or nano‑rare (<1:1m) conditions — segments where originators typically lack a sustainable business model. Our close collaboration with the Healing Wings Foundation (PAO) enables us to support these patients and their families with personalized genetic and psychological counseling.
As many Orphan drug companies are under-resourced startups, we bridge their numerous gaps and support them with fundraising, optimizing & executing the most effective clinical, medical & commercial launch & lifecycle strategy, including finding and controlling the right rare disease specialized license or distribution partner for non-core markets.
Measurable impact right when and where it matters most for long-term win-win partnerships. This is why a growing share of orphan‑drug companies partner with us to accelerate ex‑US launches end‑to‑end — from clinical execution to market entry to lifecycle expansion. Worldwide.
Knowledge & experience matters.
Every patient counts.
subrosa Group Solutions across the Orphan Drug Lifecycle Globally
XCLR8ED access to Markets, Patients, KOLs/HCPs, C-Suite, Talents & Funds
Capital
Partnering
Strategies
Health (HNH)
Executive Search
OmicsAI
Clinical Solutions
Genetic-based Diseases
HCPs & Patients
Programs
Health
Talent & HR Services
What we do for Orphan Drug companies
Clinical Development & Patient Identification
Market Access, Launch & Talent
Patient Support & Treatment
Capital, Funding & Partnering
* Disclaimer: We work hard to roll-out our services across the globe. Nevertheless not every solution is available in all 45 covered markets
Rare Ultra-rare Nano-rare
We’re working toward a future where every patient can find a path forward.
Even when no drug exists yet.
How Rare is it?
Read the full background — how rare is it really?
Assessing rare disease prevalence using only literature quantification of epidemiological data and reported cases? Not enough. Estimating the prevalence and incidence of diseases is crucial for the organization of healthcare. The amount of literature / the number of publications can be used to predict the prevalence of a given pathology.
Prevalence data are needed to support the “orphan” designation for a drug, either investigational or already approved, prevalence and burden factors often being considered by policy-makers in taking decisions about the allocation of resources for biomedical research.
Rare diseases prevalence can range from locally rare disease but frequent worldwide to diseases with only one case reported. Due to these large discrepancies in prevalence, the question about a rare disease might often not be “Is it rare?” but “How rare is it?”.
Despite its importance, the “too low evaluated” or even the absence of prevalence data can be a common situation in rare disease. In these situations, the number of cases or families documented in the medical literature is the only epidemiologic information available and is therefore used as an indication of rarity.
Among the 9408 clinical entities (groups of diseases, disorders, and sub-types) contained in the Orphanet database of the US Government, epidemiological data is available for 5949 (63%) of them. Therefore, there is no estimation of disease prevalence for more than a third of rare disease while this information is crucial.
Bibliometric data on rare disease are scarce but some publications showed that the majority of publications for rare disease are case reports, rarely reporting more than one case at once, and spread on numerous years and languages.
Orphanet demonstrated the strong predictive value of literature volume on the estimation of prevalence in rare disease.
Different other factors might influence the amount of literature and therefore the precision of prevalence-data.
- One of them is the effort done by some country, and some patients’ association, to push forward research on some specific kind of disease. In the European Union, the funding of research has been shown as an important factor influencing the amount and the impact factor of publications on rare disease produced by a country.
- The severity of the disease, often high in rare disease, can mitigate the prevalence effect.
- The publication bias that favors studies presenting positive results might also have a role in the correlation between the rarity of a disease and the amount of publication. Indeed the rarest a disease is, the less amount of patients a study is susceptible to include, therefore raising the chance of negative studies.
Too low amount of literature is one reason for the remarkable under-estimation of the prevalence, incidence or market size of nearly any rare disease in the status of “unmet need”. The second reason is that especially the early (young) patients are under-represented mainly due to the diagnostic delay and therefore the lack of knowledge about the early symptoms.
And this is where we can help:
subrosa OmicsAI is able to evaluate, validate and, if wanted, publish the REAL prevalence, incidence and market size of nearly any genetic-based (73%) rare disease indication.
And one thing upfront: the real market potential of an indication will be multiple times higher than what the “prevalence-predictors” and also the KOLs initially assume!
We are able to validate how rare is it.
To be proofed.
Built for speed
We don’t promise what we might not be able to keep.