This case study has been co-created with Dr. Andreas Reimann. Andreas is Co-Founder and Managing Partner of admedicum® Business for Patients. He has been actively working with industry as a rare disease patient representative and a board member of EURORDIS (2002-2007) and of ACHSE Germany (2003-2016).

The marketing team starts an intense world-wide mapping exercise regarding existing medical specialists, patient organizations, patient registries and patient communities. It turns out that identifying patients across the globe is very difficult as there is little knowledge about the disease among physicians. Disease-specific patient groups are often non-existent or patients are organized in non-specific or even incorrect patient groups. 

Based on the mapping results, the marketing team reaches out to some medical experts and patients in different countries via social media and direct contacts, asking for their support. The team experiences difficulties in the communication with patient organizations and physicians, as there is little awareness and understanding of the disease among these two groups. The marketing team also receives lots of medical questions which they are not capable nor allowed to answer to. 

Ultimately, efforts are halted immediately when a new compliance officer warns that the teams activities will likely be perceived as direct marketing to patients and the company risks being sued and sanctioned.

Patient access to available treatment(s) remains a challenge in many rare disease areas, mainly due to low disease awareness and diagnostic challenges. Doing your homework first with regard to understanding the patient and medical expert landscape is essential. Establishing contacts with the right experts on the basis of such mapping can provide for a strong basis for compliant, highly ethical and effective relationship building and further learning. 

The marketing group is not the right group to do the outreach. Remember that in most countries world-wide promotional activity towards the patient is prohibited by law. The approach of experts should not be driven by the product, but by the needs of the patients and health care practitioners in general. It is therefore recommended that m­edical affairs and patient affairs departments lead such effort. If the product is a valuable treatment option, eligible patients and their physicians will make their choice independently, especially in rare diseases with few options.

When it comes to very rare diseases, where little knowledge is available, it is essential to have medical experts involved in almost all interactions. The likelihood of medically relevant questions to the company is very high and often the most important driver of the interaction. Even more than with other therapeutic areas, the company should be prepared for such discussion when reaching out to patients, their organizations and physicians.

The objective of mapping the patient landscape should be to identify the most important patient groups, individual patient activists and their relationship with others per country and internationally. Peer-to-peer references to establish contacts to further patient experts are very helpful. Hence, each conversation should include the question for reference to other knowledgeable people in the field. Ideally, identifying and learning from relevant patient stakeholders, including their caretakers and specialist physicians starts during early R&D of a product. 

Due to the low number of people affected in rare diseases, it is even more important than in other therapeutic areas to do the research in the respective national language, ideally with people familiar with the disease. Sometimes you will find the best organized and most knowledgable patient advocacy groups in very small countries. Learning from more advanced structures and processes in one country is a powerful tool for understanding the situation in other countries. Your company may also consider helping­­­­ patient advocates of different countries to connect to make them stronger, for example by supporting translation and events. 

Close collaboration with a medical specialist and translation of documents in different languages is essential in (ultra-) rare diseases. This goes for all contacts, both with patients and physicians. Reality shows that in (u­ltra-) rare diseases, patients often have a lot of - usually well informed - questions before they give information. Unawareness, even among physicians at rare disease specialty centers, is high and the educational role of the company is not to be underestimated.  

Of course, the ­marketing department should be aware of all ongoing activities and be a part of the internal team. But in contact with patients, please keep marketing out. Give everything to medical and/or patient affairs management steering the cross-functional process. Collaborate with compliance early in the process to make sure contacts with patients are not product or marketing related. Especially with late stage and marketed products, clear compliance guidance and training for the team about interactions with patients is mandatory. There is no “one size fits all” approach and close collaboration with the experts of your organization cannot be replaced by any means. However, a good source for orientation is Patient Engagement by Pharma—Why and How? A Framework for Compliant Patient Engagement.

Start involving patients and compliance early in R&D! It will help avoiding many of the issues companies are facing when they start reaching out to patients only shortly before marketing authorization or following launch of a product.

Other considerations:

Partnering with patients on non-commercial disease and treatment monitoring:

Patient organizations may play a vital role in non-commercial activities such as disease registries and pharmacovigilance or in the context of Managed Access Agreements and Conditional Approvals. This is the case for example in the United Kingdom, where patient organisations are engaged as partners in the continuous monitoring of long-term effect of the therapies. Learn more about the EMA-steered Initiative for patient registries.