Subscribe Now

By entering these details you are signing up to receive our newsletter.

Expanding appreciation for the patient journey

By John Lagus, founder of Bluestem Pharma Consulting, LLC
Expanding appreciation for the patient journey

Growing up, my father was a family practice doctor, and I often saw the positive impact he had on our community. Although I didn’t want to become a doctor, I wanted a career where I could help people. I found my calling in the pharmaceutical industry, and since 1994, I have been involved in developing and commercialising orphan drugs and helping rare disease patients access new treatments through early access programmes.

Over the years, I witnessed families struggling to get a diagnosis and access life-saving or life-changing medicines. As an observer, I felt empathy for patients and caregivers navigating these challenges. This experience gave me a sense of purpose and a way to help others.

For most of my life, I have been fortunate with my health. However, in the past 12 months, I’ve faced significant health challenges, requiring multiple surgeries and dealing with other issues. Living with the uncertainty of medical results has given me a deeper appreciation for what families managing rare diseases go through daily. In comparison, my situation feels trivial.

I am also fortunate to live in a country with access to high-quality healthcare, including excellent doctors, nurses, and most medicines. Unfortunately, this is not the case for most people around the world.    

Personal patient perspective to early access

Imagine your loved one is diagnosed with a rare disease. The first thing you do is to go to the internet to understand what you can about this disease including how the disease is treated. You learn that, as for most rare diseases, no approved medicine exists. You also learn there is a pharmaceutical company developing a new treatment. You see in the company’s press releases that early clinical trial results have been promising, and there is another clinical trial currently enrolling new patients.

You speak with your doctor and ask her to reach out to the company to find out if enrolment into the clinical trial is a possibility for your loved one. Unfortunately, your loved one does not meet the entrance criteria the pharmaceutical company uses to determine eligibility for the clinical trial. What now?

In mid-2024 this scenario hit home. I was contacted by a cousin whose husband had been diagnosed with AML (acute myeloid leukaenia), a notoriously difficult leukemia to treat. Soon after diagnosis his doctors tried standard of care treatment options, but they were struggling to get him into remission. Based on my history in the pharmaceutical industry they reached out to get any insights into treatment options.

Immediately we discussed the possibility of looking for a clinical trial to join. The clinical trial and regulatory process can be lengthy. In a case like this, a patient in need may not get access to an investigative treatment for years. While no investigative treatment in clinical trials is guaranteed to work in all patients, depending on the disease, waiting without a treatment may be a guaranteed death sentence.

I also shared with my relatives how investigative medicines can be obtained in certain situations via early access (called expanded access in the United States). Expanded access was not something my cousin and her husband had heard about, which was not surprising. Unless you are dealing with a life-threatening or serious disease with no treatment options available there is no reason to know about expanded access.

We explored late-stage medicines in development for AML. Her husband’s doctors were willing to try expanded access, but none of the compounds in development were deemed a suitable option. Tragically he lost his battle with this disease.

What patients need to know about early access

Most countries in the world have legislation in place allowing patients with serious or life-threatening conditions to get access to medicines not available via normal commercial channels when the doctor initiates the request. These patients may not be able to join a clinical trial or may live in a country where this new innovative medicine won’t be launched.

An early access programme is a formal mechanism put in place by a pharmaceutical company that utilises the different country legislations (e.g., expanded access in the US, early access in France, special access in Canada, etc.) to facilitate access to these medicines in a controlled way.

Sometimes a pharmaceutical company runs these programmes themselves. However, most companies lack the knowledge needed to compliantly supply an unlicensed medicine. As a result, many pharmaceutical companies partner with a specialist company with expertise in understanding each country’s regulations, and processes in place ensuring an unlicensed medicine is supplied in a compliant and ethical manner.

A pharmaceutical company aiming to make their medicine available via an early access programme has many considerations. For instance, if clinical trials are still ongoing, the company needs to make sure they have enough of the medicine to treat the patients in the clinical trials.

A pharmaceutical company may want to control patient access for some medicines they make available in this setting for a variety of reasons including:

  • making sure the patient meets certain inclusion and exclusion criteria such as the patient’s age or stage of disease
  • ensuring that the patient’s doctor receives and understands important information about safe and effective administration of the medicine
  • making sure that the hospital where the patient will be treated has the necessary expertise and equipment to manage the patient’s treatment
  • confirming that the doctor understands their obligations such as sharing any risks with the patient before treatment with the medicine is started, or reporting adverse events to the local regulatory authority
  • ensuring that temperature-controlled products have been maintained within the required range throughout the duration of shipping

First, the patient’s doctor must contact the pharmaceutical company developing the investigative medicine to find out if the company is willing to make the medicine available via early access. The company will normally review the case with the patient’s doctor to determine whether the patient is a good candidate for their medicine.

The company is not obligated to supply the medicine under early access, and there may be good reasons why they refuse. However, this isn’s a one- and done request, the company may eventually agree in the future as more safety and efficacy data comes from clinical trials.

If the company is willing to supply the medicine, the doctor must then submit a request to the local regulatory authority to get approval. The doctor must explain details about their patient’s disease and justify why the patient has no alternative treatment options and should receive the medicine via the early access pathway.

After the regulatory authority approves use of the medicine under early access, the pharmaceutical company arranges for the medicine to be shipped to the doctor, or directly to the patient if the patient cannot travel to the doctor’s location. This can present real challenges if the medicine needs to be maintained at refrigerated or frozen temperatures, adding significant cost to the entire process.

Once the pharmaceutical company has determined they have adequate supply of the medicine and have decided to launch an early access programme, a key consideration is whether to make the medicine available free-of-charge or not.

When possible, pharmaceutical companies may wish to provide the medicine in an early access programme free-of-charge, but depending on the specific scenario, that may not be possible. Larger companies tend to provide the medicine free-of-charge for patients who live in countries where future commercial launch is expected, and most often charge for the medicine in other countries.

Due to budget constraints, smaller companies are often unable to provide medicines free-of-charge. This is especially true if the medicine is very expensive.

In some countries the government or the hospital has funding to pay for medicine that is being provided by an early access programme. But in many cases, it may be the responsibility of the patient and their family to pay for this medicine. 

Conclusion

The journey of navigating rare diseases is fraught with challenges, from obtaining a diagnosis to accessing life-saving treatments. Experiences with my own health issues and helping support my cousin and her husband reframed my appreciation for the patient journey for all dealing with health issues, but in particular for rare disease patients and their families.

The importance of early access programmes cannot be overstated, as they provide a lifeline for those with no other treatment options. These programmes, while complex, offer hope and a chance at life for many. It is crucial for patients, caregivers, and healthcare providers to be aware of these opportunities and advocate for their availability.

As we continue to advance in medical research and development, ensuring equitable access to innovative treatments remains a paramount goal. By working together, we can improve the lives of those affected by rare diseases and bring hope to countless families worldwide.

About John Lagus

John is the founder of Bluestem Pharma Consulting, LLC, helping patients around the world access medicines to treat serious or life-threatening diseases. John works with pharma and biotech companies to better understand and implement best practices for global early access and expanded access programmes that meet a patient’s unique medical needs.

Early in his career, John was introduced to the orphan drug and rare disease space, when he joined Orphan Medical. Early access strategies were utilised to supply several of the company’s FDA-approved medicines to patients outside the US.

Over the years, John has had extensive experience with the design, set-up and implementation of more than 200 global early access programmes. John also provides help to patient groups and those they serve. Supporting the rare disease community continues to be his passion.

Contact John at john@bluestempc.com, visit his website bluestempc.com, or connect with him on LinkedIn.

Expanding appreciation for the patient journey

Skip to content