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Maximizing the Chance of Launch Success with Orphan Drugs


In preparing to launch a rare-disease medication, it is important to understand the needs in the therapy area and invest strategically to maximize the impact on the unique rare-disease environment.

The launch of a medicine is a complex operation to carry out and a significant number of launches fail to meet their pre-sales expectations.1 Furthermore, the quality of a drug’s launch impacts its financial performance well beyond the initial launch phase.2 Inability to assess and understand the needs and wants of the market is listed as one of the main reasons for product launch failures.3

In preparing to launch a rare-disease medication, it is important to understand the needs in the therapy area and invest strategically to maximize the impact on the unique rare-disease environment.

The treatment pathway is the ideal framework for identifying existing needs in rare diseases

For common and well-understood diseases with existing treatment options, much of the healthcare infrastructure to support the successful launch of a medicine is in place, as many patient needs are already met to a large extent. With rare diseases, the picture is different. In many cases, the biopharma company must develop a deep understanding of the needs in the therapy area before it can identify ways to build the infrastructure needed for launch success.

One way of understanding the needs in a rare-disease area is to follow the patient treatment pathway and compare the state of affairs with what exists in a common-disease area. The information needed to conduct such as exercise can be readily gathered by interviewing key opinion leaders (KOLs), healthcare professionals (HCPs) and patient advocacy groups (PAGs).

In a common-disease patient treatment journey, the patient transitions from disease awareness and recognition to presentation and diagnosis by HCPs. Treatment options are then considered, a treatment is selected, and a brand best suited to the patient’s needs is chosen. The patient then follows an access pathway to secure the medicine and takes it over a period of time (with assistance or support if applicable) to achieve improvement in health outcomes.

Gaps along the rare-disease patient treatment pathway

Rare-disease awareness

Compared to common diseases, rare diseases have very low awareness among members of the public and HCPs. This is because the incidence of the disease is very low, and therefore most people will not have heard of it. In addition, primary care physicians get little or no training on these diseases. A lot of the information available on these diseases is provided by patients on internet sites that have not been medically vetted. Awareness creation for the disease falls mainly to PAGs.

Presentation and diagnosis

The genetic variability of many rare diseases results in variable presentations, which lead to increased difficulties in making the correct diagnosis. In some cases, several symptoms must be aggregated for a professional to come to a diagnosis of the rare disease. Unfortunately, these symptoms may be presented in isolation to different specialists who may not suspect the presence of the rare disease, and hence may not look for the other confirmatory symptoms to diagnose it. This can lead to a significant delay in receiving a correct diagnosis compared to time scales for diagnosing common diseases. In cases where a quick and accurate diagnosis is achieved, the patient often makes intense efforts to understand the condition and the treatment options.

Treatment options

In many cases, treatment options for rare diseases are few, with limited evidence to support selection and few specialists and treatment centers available to provide treatment. Treatment facilities tend to be tertiary or academic medical centers, which cover large geographies. This may mean significant travel for the patient to receive appropriate medical attention.

Access and brand selection

Rare-disease medicines are usually expensive and relevant for a relatively small number of people. This means access frameworks may need to be set up – in some cases on a patient-by-patient basis. In addition, reimbursement negotiation may be challenging, as the usual formula for calculating reimbursement may not apply. Furthermore, there may be no agreed guidelines or algorithms for brand selection, and therefore a wide variety of prescribing processes and treatment outcomes.

Persistence and patient support

While persistence and patient support may not be necessary with common diseases, they are a big consideration with rare diseases due to the low patient numbers and significant medical issues patients and their caregivers have to overcome. To maintain persistence, several patient-support provisions need to be put in place. In addition, collection of real-world evidence is usually a key feature in the study of rare diseases, as the data collected can be used to gain insight, and ultimately, continuously improve patient outcomes.

A successful launch begins by addressing needs around patient treatment

Preparation for a product launch should begin up to three years in advance of the launch date, with several workstreams operating in parallel to ensure that an excellent launch is achieved. In addition to the usual pre-launch deliverables, rare diseases have a number of extras that need to be in place for a successful launch.

Awareness and recognition

It is imperative for companies to build strong relationships with the KOLs and PAGs in the rare-disease space and increase disease awareness. Unlike with common diseases, in rare-disease areas, the KOLs are few and may be scattered across a handful of treatment centers throughout a country or countries. Their support in creating awareness of the disease in the medical community, as well as receiving referrals from their colleagues, is imperative for success. PAGs play a great role in raising awareness and helping patients to recognize symptoms so they can guide their HCPs to the right diagnosis. It is important to create a reputable source of information that patients and HCPs can utilize to develop basic understanding of the disease.

Presentation and diagnosis

Patients with rare diseases can receive multiple misdiagnoses before the right diagnosis is reached, which can cause untold suffering for them and their families. It is, therefore, an essential part of launch preparation to ensure that misdiagnosis is minimized and time from presentation to diagnosis is reduced. One way of doing this is to provide education to relevant HCPs. In addition, the relevant pathology tests to confirm diagnosis should be added to the usual battery of tests so the rare disease is already in the frame of consciousness from an early stage. Furthermore, it is important to facilitate easy referral to tertiary centers where the KOLs are located.

Treatment options

For a number of rare diseases, treatment options may include surgery, pharmacotherapy, treatment combinations, etc., with little or no agreed guidance on how to decide which one to go for. It would be useful to have patient-friendly information to help them participate in selection of appropriate treatments, including direct treatments and supportive-care strategies. For HCPs, a consensus-driven algorithm based on the available evidence would be useful (if none already exists) in helping to decide treatment steps. Development of this algorithm can be facilitated by convening experts in the area to discuss and come to an agreed position for the benefit of the therapy area.

Brand selection and access

The reimbursement process for rare-disease medication can be quite different. The usual health-economic arguments are often more difficult to make due to smaller patient numbers, gaps in evidence, life-long therapy and complications that are not typical of common diseases. It means reimbursement discussions may need to be had on a retail rather than wholesale basis. In preparing for launch, it is important to have the infrastructure in place to pursue payment on a case-by-case basis. In addition, prescribers have to be supported to secure funding for medication and be reassured that the selection of a brand will not attract additional work for them. Payers may also need to be supported in streamlining their processes to reduce the additional burden.

Persistence and patient support

Patient numbers are very low in rare diseases, and the process of getting them onto medications can be demanding for all involved. Therefore, it is in the best interest of all parties to ensure that the patient remains on the medication and gets the full benefit. To ensure persistence, it may be necessary to wrap the patient and caregiver with “beyond the pill” services such as psychological counseling, 24-7 nurse call-center support and home care. This helps to ensure that the full benefits of the medication are realized, the risk of drop-out is minimized, and the value of the medication is demonstrated. In addition, a patient toolkit can be put together to support the patient through the treatment journey. It is also common for drug companies to support the creation of a registry (if none already exists).

Case study: Sanofi Genzyme’s activities with Gaucher’s disease

Gaucher’s disease is an inherited metabolic disorder in which a type of fat called glucocerebroside cannot be adequately degraded. This is because the body does not make enough of the enzyme glucocerebrosidase. The result is the build-up of certain fatty substances in the liver, spleen, bone marrow and nervous system, which causes interference with normal functioning.4 Disease prevalence is one in 100,000.

Sanofi Genzyme markets an enzyme replacement therapy (ERT), Cerezyme®, and a substrate reduction therapy (SRT), Cerdelga®, both for the treatment of Gaucher’s disease (mainly the non-neuronopathic type). Sales performance of Cerezyme has been strong, although the launch of Cerdelga means patients can have an alternative, more convenient treatment. The medicine remains a cash cow for Sanofi Genzyme, with revenue of over $800 million in 2017, which by far exceeds analyst peak-sales predictions of $300 million.5 To achieve success in the market, Sanofi Genzyme carried out a number of activities to meet needs along the patient treatment pathway.

Awareness and recognition

Sanofi Genzyme partners with EURORDIS, a patient-driven alliance of patient organizations for rare diseases, as well as the European Gaucher Alliance to raise awareness of the condition. In addition, evidence-based information is provided on a website for patients and HCPs.6

Presentation and diagnosis

Diagnosing Gaucher’s disease can be challenging, partly because other diseases share its symptoms. To enable speedy diagnosis, Sanofi Genzyme facilitated a convening of international experts to develop a consensus-based algorithm for diagnosis.7

Treatment options

ERT and SRT are the two main treatments for the non-neuronopathic type of Gaucher’s disease. Sanofi Genzyme provides a website with information on the two classes of treatment. In addition, Sanofi Genzyme sponsored a gathering of international experts to develop a consensus-based algorithm for the management of patients after diagnosis.8

Brand selection and access

After the medication has been prescribed, Sanofi Genzyme case managers can help patients in a number of ways to get their medication. The services include support with treatment authorizations and appeals and financial assistance programs.9

Persistence and patient support

Sanofi Genzyme provides a home-therapy service to support patients who have been stabilized on medication. This minimizes patient inconvenience and drop-out. Sanofi Genzyme also sponsors and manages a registry for Gaucher’s disease.10

What kind of launch do you want for your rare-disease medicine?

The launch of a rare-disease medicine presents a great opportunity to make a real difference to a community of patients, families and HCPs who are very keen to receive new solutions for the health challenges that they face. The degree to which the solution meets the needs of the rare-disease community is related to the level of commercial success. Considering that a lot of resources are required to get the rare-disease drug through the regulatory approval process, it is only prudent to complete the last lap by investing in launch excellence and success.

As drug launches can take two to three years to prepare for, and rare diseases usually get accelerated regulatory approval, it is important to start the launch preparations for a rare-disease medicine earlier in the drug development process. If you have a rare-disease medicine at the end of phase 2 clinical trials or in phase 3 clinical trials, the launch preparation process can begin, starting with gaining deep understanding of the treatment needs along the patient treatment pathway.

About the authors

Emmanuel Aisabokhae, MPharm is a Manager, Healthcare & Life Science; Ben Enejo, MBA is a Principal, Healthcare & Life Science at Arthur D. Little; and Thomas F. Unger, PhD is an Associate Director, Healthcare & Life Science, all at Arthur D. Little.


1.     http://www.pharmatimes.com/magazine/2016/january_2016/failure_to_launch

2.     New-product success in the pharmaceutical industry: how many bites at the cherry? M. Corstjens, E. Demeire & I. Horowitz, Pages 319-331

3.     https://www.forbes.com/sites/steveolenski/2017/12/12/5-factors-that-can-make-or-break-your-marketing-strategy/#535c754c51e4

4.     https://www.gaucherdisease.org/about-gaucher-disease/what-is/

5.     https://www.forbes.com/2003/05/30/cz_zm_0530genzyme.html#19cbe4694954  https://www.nytimes.com/1994/05/25/business/company-news-new-enzyme-by-genzyme-is-approved.html

6.     https://www.gaucher-disease.eu/en/hcp/disease-overview-0

7.     https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058841/pdf/nihms238537.pdf

8.     https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058841/pdf/nihms238537.pdf

9.     https://www.sanofigenzyme.com/en/patient-support/patient-services/cerezyme-imiglucerase-for-injection-support/

10.  https://www.registrynxt.com/Home/For-Patients-and-Families

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