Writing

• Pharma Marketing
• 4 October 2026

Rare disease pharma marketing: campaigns that worked, and why

The most successful pharma marketing campaigns in rare diseases mostly help find undiagnosed patients rather than persuade doctors to choose one brand over another. The examples with verifiable results are free genetic testing (Alnylam), diagnostic education for the doctors who see the symptoms first (Pfizer in ATTR-CM), access deals that put the medicine within reach of the NHS (Novartis with Zolgensma), and occasionally a creative idea good enough to win at Cannes (Biogen in Friedreich’s ataxia).

The reason is the size of the problem. The UK government’s Rare Diseases Framework defines a rare disease as one affecting fewer than 1 in 2,000 people, counts more than 7,000 of them, and says 1 in 17 people will be affected at some point in their lives, more than 3.5 million in the UK. A Parliamentary Office of Science and Technology briefing from March 2026 puts the average time to diagnosis for rare genetic diseases at four to six years. When most of your future patients don’t yet know what they have, the market grows at the speed of diagnosis.

Why is rare disease marketing different from other pharma marketing?

In a common condition, a brand competes for share of patients who are already diagnosed. In a rare disease, the first job is usually to make sure the patients exist on paper at all. Genetic Alliance UK, citing the 2022 Rare Barometer survey by EURORDIS (490 UK respondents living with 185 conditions), reports that 1 in 4 people wait at least three years for a diagnosis. Those years are spent being referred between specialties, often to doctors who have never seen the condition and aren’t expecting to.

Three other things change the plan. The audiences are tiny, so mass media mostly reaches people who will never need you. Patient organisations often know the community better than anyone in the company, and many of them are run by the families affected. And the medicine is frequently the only one for the condition, which matters a great deal under UK rules, because a disease awareness campaign for a condition with one treatment is very close to promoting that treatment.

Examples of successful pharma marketing campaigns focusing on rare diseases

I’ve only included examples where the activity and some result can be checked in a public source. Plenty of rare disease campaigns have won awards; far fewer publish what happened to diagnosis or uptake, and I’ve said where that’s the case.

Pfizer and ATTR-CM: building a market by finding patients

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a rare, progressive condition in which misfolded protein builds up in the heart and leads to heart failure. Pfizer’s 2019 annual review says that historically fewer than 1% of cases were estimated to be diagnosed, usually through an invasive heart biopsy, and describes the programme it built alongside the launch of tafamidis (Vyndaqel and Vyndamax): “Suspect and Detect” to help doctors recognise the signs and use non-invasive diagnostic tools, and “Get The Message” for US patients and carers. It also partnered with the World Heart Federation on its Heart Hero campaign, which signed up more than 700 “Amyloidosis Heart Heroes”.

The commercial result is unusually visible. In its full-year 2024 results, Pfizer reported Vyndaqel family revenue of $5,451 million, up 64%, “driven largely by strong demand with continuing uptake in patient diagnosis”. In England, NICE recommended tafamidis for ATTR-CM in June 2024, and the committee heard from clinical experts that diagnosis now mostly uses imaging rather than biopsy and happens earlier in more people, while many cases remain undiagnosed.

There’s a serious counterpoint. J. Gill, Ameet Sarpatwari and Vinay Prasad argued in Mayo Clinic Proceedings in September 2021, using tafamidis as their case, that industry-funded disease awareness campaigns after an orphan drug approval can widen diagnostic criteria and raise diagnostic vigilance, so the medicine ends up treating a broader population than the one it was tested in, which could reduce its real-world effectiveness. So a campaign that works commercially still needs medical teams asking whether the newly found patients look like the trial population.

Alnylam: free genetic testing for hereditary ATTR amyloidosis

Alnylam took the barrier that matters most in a genetic disease, the test, and removed the cost. Its Alnylam Act programme in the US and Canada offers TTR gene testing through a partner lab to adults with defined warning signs, with “no cost to the patient, the ordering provider, or the payer” and no prescribing or purchase obligation.

A paper by Singh and colleagues in the Journal of Clinical Medicine (September 2025) reports the numbers. Between August 2017 and May 2023, Alnylam Act tested 89,760 people and found a disease-causing TTR variant in 4,297, a yield of 4.8%. A sister programme in Europe and the Middle East, GeneAct, tested 2,713 people between January 2022 and May 2024 and found 95, a yield of 3.5%. The study was funded by Alnylam and three authors are Alnylam employees, which is worth stating when you quote it, but the scale is hard to argue with: thousands of people now know they carry the variant, and many of them have relatives who should be tested too.

Biogen: “Friedreich’s Back”

Biogen’s campaign for Skyclarys, the first FDA-approved treatment for Friedreich’s ataxia (a rare, inherited, progressive disease of the nervous system), won a Gold Lion in the Pharma category at Cannes in 2025. As Fierce Pharma described it, the nine-part social series had an actor playing Nikolaus Friedreich, the 19th-century neurologist who described the disease, rising into the modern world and becoming an intern next to a Gen Z colleague. The agency, 21GRAMS, said in its press release that branded rare disease work using comedy “rarely breaks through in shows like these”.

What neither source publishes is any result: no reach, no enquiries, no patient starts. That’s normal for award entries in our industry (we’ll happily tell a jury about the craft and the emotional truth, and somehow leave the numbers in the other folder). It shows that rare disease audiences, who are often extremely well informed about their condition, respond to being spoken to with some wit. It doesn’t yet show that the campaign worked. It was also US branded work aimed at patients, which UK rules wouldn’t allow in that form.

Novartis and NHS England: Zolgensma

In the UK, the most consequential rare disease launch work often happens in a negotiation room. On 8 March 2021, NHS England and Novartis agreed a deal for Zolgensma, a one-off gene therapy for spinal muscular atrophy (SMA), with a list price of £1.79 million per dose and a confidential discount, covering up to 80 patients a year. NICE’s Meindert Boysen said that for some babies diagnosed before symptoms, it “might come close to being a cure”, and also that limited evidence meant uncertainty about long-term benefit. No poster or social campaign would have reached those families faster than the deal did. If this is your world, the detail on market access strategy for a new drug in the UK matters more than the creative brief.

How do these rare disease campaigns compare?

What do UK rules mean for rare disease campaigns?

The 2024 ABPI Code of Practice is blunt on the public side. Clause 26.1 says “Prescription only medicines must not be advertised to the public”, and Clause 26.2 bans statements that encourage people to ask for a specific prescription only medicine. Disease awareness campaigns are allowed, but the supplementary information warns that brand names, or narrowing the range of treatments described, may lead to the use of a specific medicine, and adds: “Particular care must be taken where the company’s product, even though not named, is the only medicine relevant to the disease or symptoms in question.” In rare diseases, that’s most of the time. The full picture is in my piece on UK pharma advertising rules.

Patient organisations get their own clause. Under Clause 27, companies must respect the organisation’s independence, have a written agreement for every donation, grant or sponsorship setting out exactly what is provided, and disclose those payments publicly every year. In a small community everyone reads the disclosure list, so assume the families you serve will see exactly how much you gave and for what.

Small companies get caught on the basics too. In Case 0255/08/24, completed in August 2025, the PMCPA ruled that a “Products” page in the health professional section of Recordati Rare Diseases UK’s website was promotional, because it listed brand names alongside licensed indications and forms, and breached the Code by not carrying prescribing information. The Panel also found high standards had not been maintained, noting two of the medicines were under additional monitoring. A product table on a corporate site is about as unglamorous as marketing gets, which is exactly why nobody checked it.

How to plan a rare disease marketing campaign in the UK

1. Map the diagnostic pathway before the media plan. Write down every specialty a typical patient sees before diagnosis, and where they wait longest. For ATTR-CM that was cardiologists seeing heart failure; for many conditions it’s a GP or a paediatrician seeing one symptom at a time.
2. Educate the doctors who see the symptoms, not only the ones who treat. The specialist who prescribes is often already convinced. The one who needs help is the one about to refer the patient somewhere unhelpful for the third time.
3. Remove the hardest step. If diagnosis needs a genetic test, a scan or a specialist referral, that step is where a campaign earns its money. Alnylam’s testing programme is the clearest example of a company paying for the barrier rather than for attention.
4. Work with patient organisations as partners. They know where families get stuck and what information they trust. Put every arrangement in writing under Clause 27 and accept that they will disagree with you in public sometimes; that’s what independence looks like.
5. Keep disease awareness honest. Describe the condition and the route to diagnosis, include the full range of management options, and run it past your signatory early, especially if yours is the only medicine.
6. Measure diagnoses and referrals, not impressions. A campaign that reaches 2 million people and finds no new patients has failed, however good the click-through rate looked. The method in measuring ROI on pharma marketing applies, with diagnosis rates as the outcome.
7. Plan access alongside launch. In the UK a rare disease medicine nobody can get is a very expensive awareness campaign for a competitor’s future product.

Rare disease communities are also some of the most organised online communities in healthcare, which makes social media useful and also risky; the rules in pharma social media in the UK and the approach in pharma patient engagement both apply. I worked in pharma brand management at Cipla and Alembic, and my view is that a rare disease plan should start from where patients get stuck rather than from what the brand wants to say.

If you’re planning a rare disease launch for next year, try this before the agency briefing: get a medical colleague and someone from the relevant patient organisation to sketch the current route to diagnosis on one page, with how long each step takes. Which step in that route could your company make shorter?

FAQs

What makes a rare disease pharma campaign successful?

The successful ones shorten the route to diagnosis. Rare disease patients in the UK often wait years and see several specialists before anyone names the condition, so campaigns that teach the right doctors to recognise symptoms, pay for genetic testing or work with patient organisations tend to find more patients than broad awareness advertising. Success is measured in new diagnoses and treatment starts, not reach.

Can pharma companies run rare disease awareness campaigns in the UK?

Yes, as long as they don’t promote a prescription only medicine to the public. Under Clause 26 of the 2024 ABPI Code, disease awareness campaigns must not use brand names or narrow the treatments described in a way that points to one product, and particular care is needed when the company’s medicine is the only one for the condition, which is common in rare diseases.

How do pharma companies work with rare disease patient organisations?

Through written agreements and full transparency. Clause 27 of the ABPI Code requires companies to respect patient organisations’ independence, put every donation, grant or sponsorship in a written agreement stating exactly what is provided, and disclose those payments publicly each year. Paid services from patient organisations must follow the Code’s rules on contracted services.

Do free genetic testing programmes help diagnose rare diseases?

The published data suggests they find large numbers of patients. Alnylam’s US and Canadian programme tested 89,760 people between 2017 and 2023 and identified 4,297 with a disease-causing TTR variant, according to an Alnylam-funded study in the Journal of Clinical Medicine. Its Europe and Middle East programme found 95 among 2,713 people tested.

Are disease awareness campaigns in rare diseases controversial?

Some researchers think so. Gill, Sarpatwari and Prasad argued in Mayo Clinic Proceedings in 2021, using tafamidis for ATTR-CM as their example, that industry-funded awareness campaigns after orphan drug approvals can widen who gets diagnosed and treated beyond the trial population, potentially reducing how well the medicine works in practice.

Sources

1. Department of Health and Social Care, The UK Rare Diseases Framework, 9 January 2021.
2. Parliamentary Office of Science and Technology, Diagnosis and treatment of rare genetic diseases (POSTnote 763), 25 March 2026.
3. Genetic Alliance UK, Facts and figures, accessed October 2026.
4. Pfizer, Delivering First-in-Class Science and Resources to Help People With a Rare, Underdiagnosed Heart Disease, 2019 annual review.
5. Pfizer, Collaborating to Raise Awareness of ATTR-CM, 2019 annual review.
6. Pfizer, Pfizer Reports Strong Full-Year 2024 Results And Reaffirms 2025 Guidance, 4 February 2025.
7. NICE, Tafamidis for treating transthyretin amyloidosis with cardiomyopathy (TA984), 19 June 2024.
8. Mayo Clinic Proceedings (Gill, Sarpatwari, Prasad), via PORTAL, The Implications of Industry-Funded Disease Awareness Campaigns in the Rare Disease Setting, September 2021.
9. Sponsored Testing, Alnylam Act hATTR Amyloidosis: Provider Information, accessed October 2026.
10. Journal of Clinical Medicine (Singh et al.), Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis, 26 September 2025.
11. Fierce Pharma, Pharma roars onto the Cannes Pharma Lions podium, with Viatris winning Grand Prix and Biogen taking home Gold, 17 June 2025.
12. Business Wire (21GRAMS), 21GRAMS Wins Its First Gold Lion for Branded Pharma Campaign at Cannes Lions International Festival of Creativity, 18 June 2025.
13. PMLiVE, Novartis and NHS England reach ‘landmark’ deal for Zolgensma gene therapy for SMA, 8 March 2021.
14. PMCPA, 2024 ABPI Code of Practice, Clause 26: Relations with the Public, Including Patients and Journalists, accessed October 2026.
15. PMCPA, 2024 ABPI Code of Practice, Clause 27: Relationships with Patient Organisations, accessed October 2026.
16. PMCPA, CASE/0255/08/24: Complainant v Recordati Rare Diseases UK Ltd, completed 26 August 2025.