Learnings from Lisbon 2024: A Report

IGA roundtable session with representatives from the pharmaceutical industry, Lisbon, November 2024

Introduction

In this report, you will find information from the roundtable session with representatives from the pharmaceutical industry which took place on the Sunday afternoon of the BGM, and the findings from the focus groups discussing the unmet needs of patients.

This report synthesises insights from participants that attended the IGA’s 2024 biennial General meeting in Lisbon. The session offered 5 pharmaceutical companies the opportunity to ask members of the IGA a series of questions to understand the global communities remaining unmet needs, current concerns and challenges and opportunities for future collaboration.

Questions posed to the audience:

• For patients who have been receiving treatment for a few years, has treatment delivered what they hoped for or are there still aspects that need to be addressed?
• For patients who would consider participating in clinical trials, what are the factors that would influence their decision as to whether they should take part in a study for a potential new treatment?
• When, as a patient community, you work with a drug development company, what are the 3 crucial factors the company should take into consideration?
• When talking about Gaucher type 3, what are the most relevant and impactful neurological signs/symptoms to consider, and what would be in your opinion an important improvement.
  
  Access to Medication Post-Trial:
• Are there concerns about accessing your current medication if you participate in a trial and need to return to your previous treatment?
  
  International Trial Participation:
• Would you consider traveling internationally to participate in a trial? What are your hopes and fears regarding this?
• Is there a preference for gene therapy or protein-based BBB transfer therapy in future treatments?
• Is Parkinsonian neurodegeneration significantly under diagnosed in the GD Type 1 population?
• Could you share which symptoms have shown the least improvement despite consistent treatment?
• Do you plan to continue ERT treatment in the future? If anyone is considering discontinuing ERT, could you provide insight into the reasons for this decision?
• If you were in Sanofi shoes, what would be your plan of action towards Gaucher Community for the next 3 years. What will success look like?
• What are the current unmet needs for GD3 patients? Key challenges and opportunities regarding Diagnosis/Access to care/ Disease Monitoring

Key Findings

1. Challenges in Diagnosis and Disease Awareness
   • Delayed Diagnosis: Many healthcare professionals lack awareness of GD3, leading to significant delays in diagnosis. Misdiagnosis and reliance on GD1 knowledge can further hinder appropriate care.
   • Need for Specialist Education: GD3 often requires input from a multidisciplinary team, including neurologists, haematologists, and mental health experts. There is a gap in training generalists to recognise GD3-specific symptoms such as seizures, bone pain, and fatigue.
   • Call for Holistic Treatment Approaches: Patients and caregivers emphasised the need for holistic care that includes physical, mental, and emotional health support.
2. Barriers to Treatment and Accessibility
   • Geographic Inequities: Patients in regions like Latin America and Africa reported long travel times, high treatment costs, and limited access to therapies like enzyme replacement therapy (ERT) and oral treatments.
   • Lack of Regulatory Support: In some countries, healthcare systems lack structured frameworks for rare disease treatment or approval processes for novel therapies.
   • Fear of Losing Treatment Access: Concerns about switching from infusions to oral therapies or participating in clinical trials stem from fears of losing reliable access to existing treatments.
3. Quality of Life and Support Needs
   • Fatigue and Mental Health: Fatigue, bone pain, and anxiety related to disease management were recurring themes. Patients and caregivers highlighted the need for better mental health resources.
   • Caregiver Burden: Caregivers play a critical role in GD3 management but often lack support systems or resources tailored to their needs.
4. Clinical Trial Participation
   • Barriers to Participation: Patients expressed concerns about travel, financial costs, and lack of support for participating in international clinical trials. Visa issues and logistical challenges further limit participation.
   • Expectation Management: Misaligned expectations from clinical trial sponsors about patient needs and realities can lead to frustrations and mental health strain for participants.
5. Defining Success in Treatment
   • Improved Quality of Life: Stakeholders emphasised that “success” is not solely a cure but also improved day-to-day functioning, such as reduced fatigue, better mobility, and mental well-being.
   • Cultural Sensitivity: Tailored approaches that respect cultural, regional, and socio-economic differences are crucial for successful outcomes.

Recommendations

1. Education and Training
   • Develop tools (e.g., guidelines, webinars) for general practitioners to recognise GD3 symptoms early.
   • Provide holistic care training, incorporating physical, neurological, and mental health dimensions.
2. Improving Access
   • Work with governments and NGOs to address geographic inequities and provide subsidies for travel and treatment.
   • Advocate for regulatory support to include GD3 therapies in public healthcare systems.
3. Support Systems
   • Create mental health and caregiver support programs tailored to GD3 patients and their families.
   • Engage local communities to reduce isolation and foster a supportive network.
4. Clinical Trials
   • Ensure trials consider patient logistics, including travel costs, mental health support, and treatment continuity.
   • Communicate clearly with patients and caregivers about the risks, benefits, and expectations of participation.
5. Global Collaboration
   • Foster partnerships with healthcare organisations, governments, and pharmaceutical companies to expand GD3 education and treatment options.
   • Advocate for culturally sensitive solutions to address regional disparities.

Conclusion

Enhancing awareness, improving access to care, and fostering Patient-Centered approaches are critical to addressing the unique challenges of Gaucher Disease Type

3. A collaborative effort involving education, advocacy, and tailored support can significantly improve outcomes and quality of life for GD3 patients and their caregivers.

Summary report from the focus groups about unmet needs in the Gaucher community by Madeline Stoodley

Introduction

In November 2024 the IGA held its 30th Biennial General Meeting in Lisbon, Portugal. Fifty-five representatives from the global Gaucher community attended the two-day meeting. On Sunday 10th, focus groups were facilitated for patients and those who represent them to discuss unmet care and research needs for patients with type 1, 2, and 3 Gaucher disease.

The aims of these focus group were to share ideas that will:

• Provide insights for future patient centred research
• Identify how to improve patient care strategies, with a holistic approach
  Five representatives from the pharmaceutical industry also joined the focus groups, as they had been invited to the entire Sunday afternoon session. After the focus groups later in the afternoon, there was an opportunity for these industry reps to ask a series of questions to the IGA members to better understand the global community’s unmetneeds, current concerns and challenges and opportunities for future collaboration. A separate report will be made available for this session in due course.How the session workedSix groups were allocated representatives, each including a person from the pharmaceutical industry, someone to facilitate the discussion, and another to scribe what was discussed.FindingsFrom reviewing the notes, I noticed that there are 15 main unmet needs in the Gaucher community, and these vary from country to country. These unmet needs include but are not limited to:
• Delayed diagnosis or no diagnosis at all
• No access to genetic testing
• No access to treatment
• Even if you receive treatment through Humanitarian Aid, it is not tax-exempt in some countries
• The cost of treatment is too high
• Lack of knowledge and understanding by healthcare professionals
  • In some countries, there are no specialist centres for Gaucher
  • Systems are not always patient-centric
  • Patients are not treated holistically
  • Lack of communication between doctors
  • Issues scheduling treatment
• Lack of investment in neuronopathic (type 3) Gauchers Disease
• Lack of insurance coverage for treatment
• No access to homecare
• Not enough provision of psychological and emotional support
• Lack of dialogue with the pharmaceutical industry
• The time between diagnosis and treatment is too long
• Organisations being supported by only one pharmaceutical company
• The increasing cost and time taken to travel to the hospital for treatment
• Unwillingness to recognise/licence biosimilars
• Administrative issues with making hospital appointments
• Research gaps-Gene therapy
  • Fatigue
  • Ethical issues

-Later Life and Gauchers Disease

The patient experience between countries

Representatives made the following comments about the situation in their country.

UK:

Because providing psychological and emotional support is not part of the healthcare system, patient organisations do the work. For example, in the UK the Gauchers Association offers the community to opportunity to talk to Rare Minds.

Türkiye:

Homecare is not available in Türkiye and the hospital is unable to administer treatment at the weekends, which means taking time off work to travel to the clinic for my infusion.

France and Germany:

Overall, the German and French representatives said the situation is good. There are 6-7 Gaucher disease centres available in the biggest cities, all patients (from citizens to

refugees) receive treatment, and it can be provided close to the town they live in.

Patients have great access to specialists. More awareness is needed about the patient’s desire to go on vacation or study abroad for long periods, which is currently difficult due to restrictions relating to travelling whilst needing to have treatment.

Czech Republic:

There is one specialist centre for the treatment of Gaucher Disease in the Czech Republic. However, treatment is available to all the patients, and they can receive it

close to where they live. The biggest challenge is accessing the specialists, the doctors are overloaded with work and find it difficult to organise patients’ appointments. With the help of the National Association, a case manager role was created. This person

helps to track the needs of specialists and organise the appointments.

Romania:

Homecare is available in Romania, but there is no control over the quality of the process.

Greece:

Every lysosomal drug is reimbursed in Greece, and patients can receive treatment in any town or island. The first centre of excellence for treating rare diseases is now open in Athens. However, it is going to close because the doctors there are going to retire

soon. The Greek association is currently looking for new young doctors to take over.

The system in Greece is not patient-centric: primarily the focus is on the needs of the clinic, then the needs of the doctors and lastly – the patient’s needs. The Pharma

industry does pay for genetic testing in Greece, but the local association is lobbying the government to cover these expenses.

There are only a few specialists that have great knowledge of Gaucher Disease and only one of them is a cardiologist – there are other specialists needed.

Croatia:

There is no home therapy in Croatia. The treatment is sent to the hospitals’ pharmacies.

Bulgaria:

There is no home treatment in Bulgaria. People receive it at the nearest hospital. The drug can be ordered through a local pharmacy.

Mozambique:

Only one patient in Mozambique receives treatment and another one is waiting for test results. There are probably more patients with symptoms, but they are not diagnosed. Some do treat the symptoms but do not suspect that these symptoms result from

Gaucher Disease. The IGA secured treatment for one patient in Mozambique – Mozambique has a population of 33 000 000 people.

If there is another patient is diagnosed, it is unlikely they will get funding for treatments as the government is more likely to focus on more common diseases.

Home care is not available in Mozambique because of the environment (lack of fridges; lack of clean water). The patients travel at least ~30 km for treatment.

USA:

The USA have an issue with private insurance. If a patient gets divorced or if they change jobs and there is an insurance gap, there will be months without treatment. Every year patients get a letter from the insurance companies, stating that they are well enough, so the treatment is being denied until this is resolved. In the end, everyone receives their treatment, but the insurance companies can “win” a month or two without paying in the meantime.

There are ~8000 patients in the US. After 55 years of age, however, patients are not

allowed to receive infusions at home. Patients below 55 do get a box with the treatment and the supplies for home therapy, but there is often a mismatch with the supplies received in the box (different number of IVs, needles, etc…).

Argentina:

In Argentina, there are problems with continuous access to treatment. Adherence is

difficult. The government only agree to provide treatment to patients for 2-3 months at a time and the infusion is administered repeatedly, every few weeks – because of this, patients often have to wait for new applications to be made. As a consequence, the

medicine is often late and they have periods without treatment.

In Argentina, there are 4-6 patients on biosimilars because that is the only treatment they are offered. Some doctors in Argentina would only prescribe that drug and will not cooperate with the Argentinian organisation – this means they have no way of knowing how the patients are. Some patients were switched to the biosimilar without understanding why or what the drug was.

Guatemala:

Diagnosis is delayed or not available at all. In some instances, genetic testing is done privately and that is expensive. Without diagnosis, you cannot receive treatment. This is a problem in Guatemala. A pharmaceutical company did support a geneticist before to do the diagnosis, but they are not doing that anymore. Waiting from diagnosis to treatment means the progress of disease and complications. Once a patient is

diagnosed, they often see different doctors as they rotate, and not all these doctors are specialists.

In Guatemala patients and/or their caregivers need to sue and go to court to get treatment.

Peru:

Different hospitals have different permissions, some hospitals have too much administration or slow administration. Now in Peru, there are 30 patients without

access to treatment. There have been a lot of discussions about this unmet need but no solution. These patients were initially supported to travel and receive their medication, but this has now stopped. These patients cannot afford to travel so they do not receive treatment. Peru does have a law that protects the rights of patients to receive

treatment, but now it is under evaluation and the process is very long.

A biosimilar became available in Peru but it is not approved by the EMA or FDA.

Pharmaceutical companies are unwilling to negotiate prices despite the new medicine being much cheaper. The government says they will provide access to the biosimilar but there is no help patients travel to get their treatment.

In Peru, they have Gaucher specialists, but it is difficult for patients to be seen by these doctors.

Mexico:

The same biosimilar that became available in Peru entered Mexico, but the Mexican association was very strong, and they fought for patients to stay on the ERT they were receiving. They were fortunate that pharma was willing to negotiate a lower price. In Mexico, they have a list of drugs for rare diseases, and it is not easy to change it.

Fortunately, Gaucher Disease is on the list.

In Mexico, patients do have a specific specialist who follows them throughout their journey. Mexico also has guidelines for diagnosis, management and treatment.

Columbia:

In Colombia, there is also a list of drugs available for rare disease patients, and the government can add or remove a disease, it is protected by law however, that patients receive treatment. In Colombia they also have specialists for rare diseases and

Lysosomal Storage Disorders, fortunately, there is education and knowledge about genetics.

India:

The children of parents who work for the government in India receive treatment. In India, specialist centres get a grant of 10,000,000 dollars from the government , so patients are sent to these clinics for treatment.

Patients are allowed to have their infusion at home in India, but the nurse must be paid for it. Patients who do receive their treatment in the hospital live far away (over 2000

km). Electricity is also a problem because of power cuts (affects the fridges).

Israel:

Since 1995 there has been a budget in Israel, so new treatments are easily approved by the ministry. However, new technologies might be denied even though there is a budget.

Homecare is available in Israel, but patients collect the drug from the pharmacy themselves, which means the physicians are unable to monitor how and when the treatment is administered. There are ~1000 GD patients in Israel.

Comments about the unmet need for access to homecare:

It is very important for patients to have access to home care as travel to the hospitals is too long and too expensive, and patients need to take a day off school or work. Some travel patients travel 12 hours to a clinic. It is difficult to keep adherence at a high level with these challenges. Financial support is of paramount importance for the patients to keep up with their treatment schedule.

Patients note that oral treatment is more expensive and therefore is not available in some countries and is impossible to get.

Doctors also do not want patients to access homecare, they want to control the patients to support them to support their doctors’ publications and conferences.