A New Path to Helping Patients with Rare Diseases 

By: Maria Palombini, IEEE-Standards Association 

For more than a decade there has been much propaganda on educating and encouraging patients to manage their healthcare. This was a direct shift in response to a healthcare system focused on preventive medicine. Today we are in the midst of another transformational shift towards a patient-centric-driven healthcare system. What does this mean for patients with rare diseases? 

Patients of rare diseases are one of the most underserved populations in the healthcare system. Often their symptoms and conditions are misunderstood or misdiagnosed, they have limited or no access to new and available treatments and therapies, and hidden from clinical trials. 

Bio/pharmaceutical drug makers who operate in the orphan drug markets are often challenged to find patients for different phases of clinical trial recruitment. About 30% of phase III rare disease clinical trials fail due to unmet enrollment protocol.Recruitment for rare disease clinical trials is further compounded by the fact that 50% of rare diseases affect children2 

Every single patient’s participation in a phase I, II, or III trial is vital for getting a potential life-saving or life-altering therapy approved by the Food Drug Administration (FDA), and open the pockets of payers to evaluate pricing and reimbursement.  To make this a reality, the traditional model of patient recruitment can no longer apply where sites are set up for trials “hoping” patients will find out and enroll in a trial. There is a better way as a result of breakthrough applications of technologies such as artificial intelligence (AI), blockchain, Internet of Medical Things (IoMTs), and more. 

“In the world of rare diseases increasingly it is the ability of disease communities to organize and share information that makes the difference to move science forward for their communities.” – Hillary Savoie, PhD, Founder and Director of The Cute Syndrome Foundation. Advocate and mother of a patient with the rare PCDH19 and SCN8A mutations3. 

A Disruptive Technology Empowering Rare Disease Patients with a Voice

What is this disruptive technology? Blockchain is a form of distributed ledger technology (DLT) that enables information to be shared but not copied while also providing anonymity (privacy) of the users who participate in the network. Some of the core features of the blockchain is that it is decentralized (no central database to host the information), transparent, immutable, auditable, and extremely hard to hack. Blockchain is the underlying ledger (auditing) system for the popular Bitcoin currency. (Note: for the purpose of this article, Bitcoin is irrelevant.) For some light reading on Blockchain, see this article 

Second, how can blockchain give patients with rare disease a voice? 

[Consent + Verified Match = Benefits] 

  1. Empowering patients with the ability to manage and consent to share their personal health records. Imagine you had your very own secure lockbox containing all your health records – diagnostics, doctor reports, DNA results, prescriptions, etc anything that has do with your personal health that can then be utilized for research, clinical trials and/or general awareness of your disease. As the guardian of your lockbox you can choose what you would like to exchange with whom, when you want and for what you would like to exchange (ie. financial benefits, access to treatments/therapies, clinical trials, etc). Through this lockbox you can make available certain identifiers about your demographics (sex, age, race, etc), your symptoms, diagnostics, co-morbidities, genetic reports, etc without ever disclosing who you are. You have the right to choose what you want to make available for research and whether you want to be found. In addition, you would be able to audit/monitor who queried your information. [This is your power to audit who looks at your information, control consent and make yourself aware for trial possibilities.]
  1. Connecting patients with clinical trial sponsors through the exchange. Sponsors of rare disease clinical trials are extremely challenged in finding patients that match the protocols or trial design. There is a cost to first find the patients and then properly qualify them for the trial resulting in time delays or enrollment failureDelays to start the trials result in delays of getting medicine to patients. These blockchain/DLT powered exchanges provide an optimized and high-quality source of hard-to-find patients that is fully compliant with HIPPA or any other regulatory guideline that relates to patient privacy and trial design recruitment protocols.  [This is the power of the verified match]
  1. The BENEFITS: Win-win for all stakeholders 
  1. Patients can be found, qualified, and recruited with consent under anonymity and be “compensated” for their data to participate in clinical trials based on their personal health identifiers. (Compensatory models can range from financial to treatment access to getting health data back to patient profile. Consent on the exchange is for the right to be queried. Clinical trial consent varies dependent on the design of the exchange.) 
  1. No more hoping to hear about a trial and/or be found. Patients will be found by trial sponsors who are aggressively seeking qualified rare disease patients to meet enrollment timelines and expedite the start of trials. 
  1. Reduce the possibility of life-saving therapy trials being cancelled because of not finding the right patients for the trial

These rare disease patient-centric health data exchanges powered by blockchain technology are not designed to offer hope, they are designed to offer concrete benefits: access and opportunity to population of patients who have been hidden from researchers  

There is a global community of technologists, clinicians, regulatory leaders, patient advocacy groups, researchers, pharmaceutical professionals and many other stakeholders working together to make this a reality. However, this all starts with you, the patient.  We all need to work together from business, technical, regulatory, policy and patient-health perspective. We continue to work on the challenges and barriers that would make this a reality for all therapeutic areas. However, today, there are projects and pilots currently in progress that are making it possible for rare disease patients to be found for research and trials. 

These new patient-centric health data exchanges place the patient at the center and as driver of new opportunitiesThis disruptive technology often referred to as blockchain is has proven to equally negotiate the ability share sensitive data while maintaining its security and privacy, a legacy technology challenge for the healthcare industry. 

Through this article we are introducing a new path for patients. The urgency for access to trials, therapies and help for rare disease patients can no longer depend on the status quo. Trying something new or non-traditional was best captured in the most often misunderstood poem, “The Road Not Taken” by the famous American Poet, Robert Frost.  The poem compels us to think about life choices whether to go with what we know or go the unknown. This is similar to how you may view the possibility of participating in one of these open patient health data exchanges. The use of a disruptive technology such as blockchain to protect, secure and enable patients is not fully known but yet it has the potential to offer a new opportunity for patients seeking any and all alternatives to cures and therapies to improve the quality of life. 

If you are a patient advocate who believes that the collective power of many can make a difference through sharing information in an ethical, private and secure way to contribute or get access to cures, therapies and treatments, then please reach out. There are quite a few projects focused on rare disease patient health data exchanges looking to collaborate with patients and/or patient advocacies to create a tool that can be utilized and be a resource for patients. We will only connect patients/advocacies with those projects that follow ethically designed requirements. If you are interested or have any questions please write to me at m.palombini@ieee.org 

The opinions and thoughts expressed in this publication are those of the author and do not reflect those of the IEEE or any of its members. 

About the Author 

Maria Palombini, MBA is the Life Science Practice Lead for the Global Business Strategy & Intelligence Unit of the IEEE-Standards Association and an advocate for empowering all patients with the right to agency of personal dataAs the lead for the Life Science Practice at the IEEE (Institute of Electrical and Electronics Engineers – www.ieee.org) Standards Associationthe world’s largest technology association with a core mission of advancing technology for humanity. The overall mission of the Life Science practice is to build a global community of passionate stakeholders who openly collaborate to build consensus on solutions that will drive adoption of breakthrough technologies that are viable in preserving, sustaining and protecting life.  



  1. Impact Report, Tufts Center for the Study of Drug Development, Vol. 15, No. 1, Tufts University, 2013. – https://www.clinicalleader.com/doc/rare-disease-patient-recruitment-and-retention-0001 
  2. Rare Disease Day Key Figures, https://www.rarediseaseday.org/article/what-is-a-rare-disease 
  3. “Blur: Inside my Life as a Parent of a Child with a Rare Disease,” Thriving, Boston Children’s Hospital Pediatric Health Blog, https://thriving.childrenshospital.org/blur-inside-life-parent-child-rare-disease/

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