Project brief

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 company has received a marketing authorization for an innovative treatment for a very rare disease with only a few thousand patients worldwide. 


  • Finding patients in (ultra-) rare diseases
  • Dealing with medical questions­­­ from patients to Key Opinion Leaders (KOLs)
  • Compliance related to product and treatment related information to patients


The company wants to make patients aware of their treatment option, by sharing the regulatory approved data that emerged from clinical trials. 



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.


What went well

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. 

What can be improved?

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.

Considerations and recommendations

Mapping rare diseases

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. 

Medical affairs and educational needs

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.  

Setting up a rare disease Patient Affairs Team for compliant patient interaction

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


Preparing a collaboration

Defining the interaction

Patients, patient representatives and industry should take responsibility to ensure interactions are meaningful by clearly defined processes and actions, progressed to timelines. In addition, all participants should be prepared for the interaction. 

Prior to each interaction, agree mutually on (where applicable): 

  • The objective of project involving patients and/or areas of common interest to establish agreed structured interaction, providing all parties with necessary protection with regards to independence, privacy, confidentiality and expectations (see section 11. written agreement)
  • The type of input and mandate of the involved person
  • The tools and methods of interaction, e.g. types and frequency of meetings, ground rules, conflict resolution, evaluation
  • Desired patient / patient partner organisation to foster long-term working partnerships, with independence ensured (in scope)
  • The profile of the type of patient/s or patient representatives/s to be involved and their number
  • How activity outputs will be used and ownership of outputs
  • How and when the patient/s involved will be informed of outcomes
  • Contractual terms and conditions including consent and compensation (see section 11, written agreement). 
  • Other elements according to the specific project 


European Patients’ Academy on Therapeutic Innovation (EUPATI) (2016): Guidance for patient involvement for industry-led medicines R&D. (12/06/17)


Preparing a collaboration

The four key principles for collaboration:

1. Clarity of Purpose

Each party should be clear about the reason for and the planned outcome of the collaboration – and the ultimate benefit for patients 

2. Integrity

Each party should act and be seen to act honestly and with integrity at all times 

3. Independence

Each party should maintain their independence 

4. Transparency

Each party should be open and honest about the purpose of the collaboration and be able to account publicly for the associated activities and any exchanges of funding  

Using this guide: a checklist

  • Has there been a frank discussion about the purpose and expected benefits of the collaboration, and any risks, addressing all the issues in this guide?
  • Are the objectives and planned outcomes of the collaboration specified?
  • Are the roles of each partner and reporting mechanisms specified?
  • Has a written agreement or contract been put in place, which sets out how each party will adhere to the four key principles?
  • Is there a named senior individual accountable for managing and maintaining the relationship and monitoring adherence to the four key principles?
  • Is information about the collaboration published on the company and charity websites?
  • Can each party confidently explain the collaboration in public? 

Source: National Voices, The Association of the British Pharmaceutical Industry (ABPI) (2015): Working

together, delivering for patients. A guide to collaboration between charities and pharmaceutical companies in the UK. (12/06/17)


Patient identification/interaction

Patient identification/interaction

There are many ways to identify patients to be involved in an interaction. The main routs are through: 

  • existing patient organisations
  • EUPATI or similar project
  • advertising opportunities for patient participation
  • existing relationships with healthcare providers, hospitals and researchers and other agencies 
  • unsolicited requests previously made by interested parties
  • existing advisory boards / groups (e.g. EFPIA Think Tank, Patients and Consumers Working Party at the EMA)
  • this party agencies 

Source: European Patients’Academy on Therapeutic Innovation (EUPATI) (2016): Guidance for patient involvement for industry-led medicines R&D. (12/06/17)


List of useful conferences

Conferences with and for patients

Patient Summit Europe

Rare diseases conferences with and for patients

Orphan Drug Summit

The Global Orphand Drug Conference and Expo

Indication specific conferences with and for patients

European Rett Syndrome Congress


Defining role patients

Although you may not have selected the expert patients or patient groups (EP/PGs) yet, outlining their roles and responsibilities at this stage helps to define your needs. Keep in mind that EP/PG roles may vary at different of the program or may evolve in response to new requirements. Once selected, discuss the roles with your EP/PGs to clarify what they can contribute based on their unique expertise and experience and avoid misunderstandings at the outset, e.g., if they’re expecting to have a partnership role but you’ve designed reactor role (see Types of Patient Roles chart below). 

Patient RoleExamples



Partnership role
  • Patients provide a priori and continuous consultation on outcomes of importance, study design, etc.
  • Patients are paid investigators or consultants
  • Patients have a governance role - "a seat at the table"
Advisor role
  • Patients serve as advisory committee members or provide a priori consultation on outcomes of importance and study design, but have no leadership role or governance authority
Reactor role
  • Patient input is collected distally through surveys, focus groups, or interviews, but patients are no consulted directly or a prior on such things as study design and outcomes of importance
  • Patients are asked to react to what has been put before them rather than being the origin of the concepts of interest
Trial or study participant
  • Patients are recruited or enrolled as study participant, but are not asked for input, consultation or reaction

Source: DIA (2017): Considerations Guide to Implementing Patient-Centric Initiatives in Health Care Product

Development. (02/06/17)


Mapping the Patient Landscape

Following a general understanding of the patient journey and unmet needs and before systematically interacting with patients and KOLs in a specific therapeutic area a company should have an understanding of the stakeholder field. The checklist below can help you obtain such an understanding, by:

Source: This checklist has been developed by admedicum® Business for Patients GmbH.