Patient-centered digital real-world study in rare genetic disease 

Real-world rare disease insights from daily patient reports used to support biotech reimbursement submission

  Client success story

In collaboration with patient advocates and scientific advisors, Vitaccess has supported a US-based biotechnology company in demonstrating the real-world burden and unmet need experienced by a global cohort of patients with TDT.

  Case study by the numbers


rare disease patients and caregiver proxies recruited in the US, UK, and Italy

Daily data capture from engaged cohort for 90 days

of participants completed the 5 study surveys over 100 times in total


    • A biotechnology company was developing a treatment for TDT, a rare genetic disease resulting in anemia, serious morbidity, and reliance on regular blood transfusions.
    • The company approached us about conducting an observational study to quantify the impact of transfusion experienced by patients. This was to support the value story and reimbursement submission for their treatment which is aimed at reducing or eliminating transfusion reliance.


    • Our client wished to generate data to demonstrate the patient burden of transfusion reliance, both on transfusion days and proximal days. Evidence of treatment burden was to be used in the client’s reimbursement submission to the National Institute for Health and Care Excellence (NICE).
    • The observational study was to be quickly and flexibly deployed in multiple countries.
    • Daily data capture was required to demonstrate the impacts of regular transfusion over time. To this end, the study design was to incorporate targeted efforts at driving patient engagement in order to encourage consistent survey completion.

  Key deliverables

    • Global digital longitudinal observational study collecting patient- or caregiver proxy-reported data on the impact of TDT across the US, UK, and Italy.
    • Bespoke digital study app, myThalLog, co-created with patient advocacy groups and key opinion leaders from each scope country.
    • Study design and app localized and ethically approved across all countries.
    • 85 participants recruited over three months via patient advocacy group communications, social media, and word of mouth.
    • Demographic and PRO data collected daily over the 90-day study period.
    • To capture concepts important to individuals with TDT, the following surveys were administrated: a bespoke background survey; the Brief Fatigue Inventory; the Transfusion-dependent Quality of Life questionnaire; a bespoke disease-management survey; and the Brief Pain Inventory Short Form.
    • Participant engagement driven by gamification: virtual tokens provided upon survey completion, which could be collected and redeemed for digital Amazon vouchers.
    • Publication of results in a manuscript and conference poster.

  Client benefit

    • Real-world insights gathered from international patient cohort quickly and at low cost.
    • Demonstration of the daily impacts of transfusion in TDT and thus the burden and unmet need felt by patients.
    • Patient-reported evidence to complement clinical trial data and support value story and reimbursement submission for client’s product.
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