Rare diseases are individually rare but collectively common. About 80% of rare diseases are genetic and hard to treat.

Rare diseases are hard to treat due to the human genome’s complexity. This complexity results in the development of diverse, disease-causing mutations. Consequently, traditional approaches to drug development have become expensive and ineffective.

Exploiting new genomics advances

Genomics advances mean patients can be screened to determine whether they carry disease-causing variants in their genome. In parallel, the biotechnology industry has developed new treatments using antibodies, such as Antibody-drug conjugates (ADCs), that can target specific diseased cells.

This has led to new classes of precision cancer treatments, some of which are now first-line treatments in metastatic breast cancer. It’s time to start exploiting these precision approaches to address rare diseases.

The biotechnology industry
has developed new treatments
using antibodies.

Creating targeted therapies for DM1  

Myotonic Dystrophy Type 1 (DM1) is a type of muscular dystrophy that brings about progressive muscle loss and weakness and is caused by a mutation in the DMPK gene. Affecting 1 in 2,100, it is diagnosed through genetic testing, including at the prenatal stage. It has no cure and is managed through mobility aids and pain relief.

Today, researchers are developing new drugs that address the genetic basis of DM1, intending to halt and, hopefully, reverse progression. These therapies are based on short strands of DNA or RNA called oligonucleotides. They interact directly with the faulty machinery within a cell to enable it to operate correctly. The challenge is how to deliver these oligonucleotides into the affected cells in the body.

Power of antibody oligonucleotide conjugates

Researchers have found ways to tap into existing proven targeting technologies used in other successful antibody therapies. By tethering the targeting antibody to the active oligonucleotide, thus creating ‘antibody oligonucleotide conjugates’ (AOCs). For DM1, these AOCs search out the diseased muscle cells, enter the cell nucleus (its brain) and neutralise the effect of the mutant DMPK gene.

Clinical trials have demonstrated that AOCs induce the required gene regulation, are safe and produce functional improvements in DM1 patients. Using an AOC approach, off-the-shelf components can be assembled to create complex precision medicines, offering potentially more cost-effective treatments for rare disease patients.

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We all deserve an equal opportunity to live a full life. Yet, people living with rare diseases en-counter significant health inequalities including years of delayed diagnosis, misunderstanding of symptoms and limited access to treatments.

The new Labour Government has said it will focus on tackling health inequalities and factors driving variation in access to NHS services.

Addressing health inequality

Deborah Richards, Interim General Manager and Head of Commercial at Alexion, AstraZeneca Rare Disease, welcomes this. “The UK has an opportunity here, if the new 10-year NHS plan draws on the work of the UK Rare Disease Framework, embedding practical actions to understand and address these drivers of inequality, then people living with rare conditions could routinely get access to the diagnosis and care they urgently need,” she says.

In particular, the road to diagnosis is long and emotionally challenging, taking on average five years and involving consultations with multiple doctors and specialists. “Despite being burdened with symptoms that impact day-to-day life, people with rare diseases can feel unheard and excluded,” says Deborah. This period is often referred to as a ‘diagnostic odyssey.’ 

Disrupting the diagnostic odyssey

The UK has made progress in expanding the role of genomics in rare diseases to accelerate diagnosis, improve care and drive future research. For Deborah, the opportunity is clear, “We need to build on the success of the 100,000 Genomes Project and creation of the NHS Genomic Medicine Service by embedding testing within clinical pathways. Additionally, the world-leading Generation Study will improve our understanding of the potential benefits of genomics in newborn screening to aid diagnosis and treatment.” 

For those 20% of rare diseases, which do not have a known genetic basis, new technology, including AI, provide solutions to rapidly accelerate diagnosis times. Expanding their partnership with digital health company Mendelian on Project FIND, Alexion has focused on creating AI software that scans electronic health records to help doctors identify clusters of rare disease symptoms. “This innovative tool has huge potential to rapidly accelerate time to diagnosis – we are seeing these results in real-time,” says Deborah.  

The treatment landscape for rare conditions
remains a challenge to ensure patients
have access to the latest therapies.

Redefining value in rare

The treatment landscape for rare conditions remains a challenge to ensure patients have access to the latest therapies — only 10% of rare diseases have an approved treatment. The level of evidence generated by clinical trials in small populations create complexities when evaluated by the National Institute for Health and Care Excellence (NICE). Deborah notes: “Where treatment options do exist, they often have transformative, even life-saving, benefits for people but current assessment approaches for rare diseases need to evolve to truly capture and recognise the full value of a rare disease therapy.” 

Putting patients first

Despite these challenges, Deborah is positive about the future. “There is change, hope and focus from many dedicated people across the UK,” she says. Working with the NHS, a new government committed patient communities and industry partners, we have the building blocks to turn the UK into a country where people with rare diseases truly experience health equity in diagnosis and can access to life-changing therapy and care.”

UK/NP/0166 Date of prep: Sep 2024

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Despite ongoing advancements in medicine, many rare diseases remain under-researched and underserved, particularly in emerging markets where access to effective treatment options is not only challenging but often impossible.

A global pharmaceutical company is partnering with innovative life-science companies to commercialise rare disease medicines in these challenging regions.

Improving access to essential medicine

Masters Speciality Pharma partners with innovative life-science companies to commercialise life-saving medicines. Their mission is grounded in addressing the unmet needs of patients, by improving access to essential treatments.  

Dr Zulf Masters, OBE, CEO and Founder, shares the origin of the company. “I spent many years working with healthcare professionals around Latin America. It became clear to me; patients had very little access to affordable treatments,” he says.

“There are over 7,000 rare diseases, but only around 750 available treatments despite ongoing research in rare diseases. We bridge the gap by ensuring these treatments reach those who need them, regardless of geographical or economic barriers.”

Empathy, perseverance and understanding the patient’s journey are key.

Overcoming rare disease challenges

Facilitating access to medicines in emerging markets comes with a host of unique challenges; healthcare budgets for rare diseases are spent with caution, and these budgets can be very limited. The regulatory environment is constantly changing, and every country has its bureaucratic nuances.

“I always maintain that, at the end of every delivery we make, there is a patient, either in hospital or at home, in pain, who needs to be treated. We need to be inclusive if we are to bridge the gap between medical advancements and the often-overlooked needs of those with rare diseases,” Masters continues.

“We have over 40 years of experience overcoming these challenges. Our team has the expertise needed to navigate these regulatory landscapes, negotiate health technology assessments and establish a reliable supply chain, ensuring continuous access to essential medicines in our end-to-end service.”

Collaboration is key to success

The company’s success is rooted in its collaborative approach. Partnering with Masters Speciality Pharma gives you in-house regulatory, medical and pharmacovigilance, as well as sales, marketing and supply-chain expertise.

“Not just the patients, but their caregivers, doctors, nurses and relatives all have an appreciation for the value we provide in ensuring these patients have access to appropriate treatments,” explains Masters.

“Empathy, perseverance and understanding the patient’s journey are key. We are making strides in several disease areas including sickle cell disease and paroxysmal nocturnal haemoglobinuria (PNH). Our partners rely on our expertise to reach patients in the most challenging markets.”

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Light is a source of agonising pain for patients with a rare condition called erythropoietic protoporphyria. As a result, they have been forced to cover up and live sheltered lives.

Imagine experiencing extreme, searing pain every time you are exposed to light — sunlight or, in some cases, fluorescent or LED. It would be agony — physically and emotionally. Yet, that’s what some patients with erythropoietic protoporphyria (EPP) deal with daily.

What is erythropoietic protoporphyria?

EPP is a rare, inherited, metabolic condition — caused by abnormally low levels of the ferrochelatase (FECH) enzyme — where light exposure triggers a severe phototoxic reaction. Damage is caused at a vascular level, deep within skin. Symptoms include intolerable pain and swelling, most commonly on the hands, arms and face, which typically last for several days and do not respond to pain medications. As patients are at risk of second-degree burns and incapacitating ulcers, they are shielded from light sources and the outdoors. At school, affected children can be cruelly stigmatised as ‘vampires’ by their peers.

“EPP patients are handicapped for life, often have a depressive mood disorder and some have suicidal ideation since they are not able to participate in normal life,” explains Dr Philippe Wolgen, CEO of biopharmaceutical company, CLINUVEL.

When I was a teenager, I remember
feeling embarrassed about EPP
because no one had heard of it.

Personal stories about how EPP affects patients’ lives

Dr Geoff Sloan, Consultant Anaesthetist at Salford Royal, knows its impact only too well as an EPP patient. “My parents told me that when I was a baby, they would take me out in the pram, and I would start intractable screaming that would last for hours and days,” he says. “As a child, I remember periods of horrible, intense pain after exposure to sunlight. Now, I try to avoid it.”

Another patient, now 27, remembers her painful symptoms beginning when she was nine years old. She was 15 before a consultant dermatologist diagnosed her with EPP. She was prescribed high doses of antihistamines to reduce inflammation and sun lotions that reflect visible light — but no medication was available to treat the underlying cause.

“I’m mainly symptomatic in the summer,” she says. “Even so, when I was a teenager, I remember feeling embarrassed about EPP because no one had heard of it, and at that age, you don’t want to be different. Now that I’m older, I actively do things to prevent symptoms and make my condition more manageable. If I’m out with friends in sunny weather, I’m completely open about taking antihistamines or applying lotion.”

How a treatment has made a life-changing difference

However, in March, she started receiving treatment as part of a patient access scheme with NHS Scotland, and life improved dramatically. “It’s made a massive difference, mentally and physically,” she admits. “I’ve been on holiday to Croatia and Italy and able to wear a bikini and sunbathe. Ordinarily, I’d have been anxious about symptoms developing — but not this time.”

Dr Sloan also received treatment when he took part in the first CLINUVEL drug trial around a decade ago. “It was life-changing,” he says. While the drug is approved in the UK, it is not reimbursed by the NHS in England, Wales and Northern Ireland. Dr Wolgen finds this perplexing.

“According to prescribing physicians and EPP patients, with the treatment, they can now live a life they’d never imagined, providing them freedom from burns,” he says. “For the first time, patients go outdoors, enjoy life with their families and lose anxiety of ulcerations, scarring and untreatable pain.”

The company is now developing treatment for EPP’s ‘sister disease’, variegate porphyria (VP) — where patients experience blisters within hours of exposure to daylight — and xeroderma pigmentosum — or ‘children of the moon’ who are 10,000 times more at risk of skin cancer. “Seeing the response from patients and their families is an unexpected gift each day,” says Dr Wolgen. “Words cannot describe the satisfaction of developing effective drugs with minimal side effects for thousands of patients.”

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A World Health Assembly (WHA) Resolution on rare diseases is crucial to make rare diseases a global health priority and improve the lives of the 300 million persons living with a rare disease worldwide.

Today, thanks to the mobilisation of this community of patients, families, researchers and clinicians, science is advancing, healthcare is improving; and policies are emerging in more countries, leading to improved outcomes for persons living with a rare disease (PLWRD). 

Global action needed for rare diseases

However, this progress has not been consistent across all communities. PLWRD across the globe continue to face delays in diagnosis, limited access to treatment and high costs. To improve the rare disease ecosystem, collective action through a collaborative and multisectoral approach is crucial. To truly achieve ‘health for all,’ rare diseases must be a global health priority. 

That is why Egypt, Qatar, Spain, Malaysia and France are co-sponsoring a resolution entitled ‘Rare Diseases: A Priority for Global Health Equity and Inclusion’ at the World Health Assembly (WHA) 78 in May 2025 and calling on other Member States to cosponsor the initiative.

To truly achieve ‘health for all,’ rare
diseases must be a global health priority.

What will the Resolution address?

A WHA Resolution will provide Member States with a tangible framework for action and a clear and detailed roadmap. It will establish global targets and strategic goals, along with specific actions to achieve them. The guiding principles of this plan will include a common reference point for identifying rare diseases and a commitment to people-centred primary healthcare and universal health coverage. It will advocate for an integrated approach to care throughout an individual’s life and ensure that policies and practices are informed by the best available evidence.

To ensure effectiveness, a robust process for accountability and monitoring will be established, allowing for the tracking of implementation progress. Additionally, a dedicated budget for the WHO will be allocated to support member states in executing the plan, ensuring that resources are available to facilitate these critical actions.

An opportunity for leadership

This WHA Resolution is an opportunity for Member States to strengthen their positions as leaders in healthcare innovation, cement their commitment to health equity and inclusion and contribute their respective expertise and resources to improve the lives of PLWRD not only nationally, but globally.  

It will be the catalyst that urges Member States to work together towards enhancing policy processes, advancing research, accelerating innovation and improving access to care for PLWRD worldwide.

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Learn how physician and patient collaboration can ensure more positive healthcare outcomes.

Imagine having something as trivial as a haircut without agreeing what you want. Many of us jointly decide the outcome with our hairdresser and provide feedback as the cut progresses.

This form of shared decision making (SDM) happens in many aspects of our lives across many different services. Yet, during important medical consultations about serious, potentially life-limiting conditions, two-way conversations may not even begin or could end with ‘See you in three months,’ as we feel unable to ask the ‘right’ questions or in some instances aren’t asked for our opinion.

Sharing health expectations

When it comes to our quality of life, conversation is even more important. Let’s look at hereditary angioedema (HAE), a rare genetic disease characterised by episodes of sudden and spontaneous severe swelling.

Less than 33% of HAE patients discuss individual treatment plans during appointments, which suggests missed opportunities for their unique needs to be heard and met. This is despite international guidelines recommending all patients have, and regularly revisit, action plans with their healthcare providers.

As each patient is unique, so
too are their treatment goals.

Steps to sharing success

As each HAE patient is unique, so too are their treatment goals, ranging from a reduction in swellings to holding down a job or quite simply feeling they can step outside. The SDM process can enable patients to more confidently share personal aspirations, which in turn better enables physicians to use everything in their arsenal to advise and support them in their goals.

This collaborative process leads patients to reframe the disease and think, ‘What do I want?’ It’s also a more rewarding dialogue for physicians and reminds them that, ultimately, it’s equally satisfying to help patients help themselves.

Social contracting

In this way, a social contract is established between the expert and recipient, whereby all expectations and processes are set. Medical professionals agree that the collaborative nature of this contract needs to be further emphasised. Dr Sorena Kiani, Consultant Immunologist at Royal Free London NHS Foundation Trust, says: “Shared decision making is a contract and agreement between me and my patient.”

Dr Kiani expands on this in the HAE UK ‘Power of Partnership’ report, produced in collaboration with BioCryst. An in-depth look at what works and doesn’t, this report suggests practical resources to help start conversations.

The HAE field is a dynamic, fast-changing space with increasing treatment options. Now is the time for more physicians and patients to begin exploring the shared possibilities together.

UK.BCX.00363
September 2024

[1] HAE UK. The Power of Partnership: Shared Decision Making in HAE. Available at: https:// www.haeuk.org/power-of-partnership/. Last accessed: September 2024 
[2] Maurer M, Magerl M, Betschel S, et al. The international WAO/EAACI guideline for the management of hereditary angioedema-The 2021 revision and update. Allergy. 2022;77(7):1961-1990. 

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The rare disease community is vast and diverse, encompassing around 300 million people globally. Taken as a whole, rare disease is not as rare as it seems at first glance.

Regardless of the numbers, one defining quality of the rare disease community is that it is full of fierce advocates who stick together to lead their cause into the future. The mantra ‘nothing about us, without us’ has been a rallying cry for patient advocacy for decades.

Empowering patients through authentic voices

At Patient Worthy, we believe that the best way for patients to advocate for themselves is to do it with their own, authentic voices.

Since 2015, we have been helping rare disease patients around the world tell their stories. Whether it’s the latest in rare disease news, courageous patient profiles or heartfelt interviews on our award-winning podcast, Patient Worthy strives to bring the champions of the rare community together. We’re proud to say that we have helped many people reading this feel more connected with their rare communities.

One idea that we consistently hear from rare disease
patients is how connecting and interacting with
others like them has been a lifeline on their journey.

Growing awareness of acromegaly

Recently, we shared a story that brought together the powerful voices of six people living with acromegaly, a rare hormone disorder characterised by abnormal growth in the extremities and other areas of the body. These patients talked about the challenges in their lives, but also about how becoming part of an acromegaly mentorship programme has provided a way to support their patient communities.

One idea that we consistently hear from rare disease patients is how connecting and interacting with others like them has been a lifeline on their journey. We’re proud to say that this collaborative interview was read by more than 10,000 people around the world at PatientWorthy.com. 

Amplify your story and inspire change

Another way that Patient Worthy helps to connect rare disease patients is through patient ambassadorship. We help connect patients with opportunities around the world that need your authentic story, sharing that message with ​other patients, caregivers and ​medical professionals. Your journey can help raise ​awareness and inspire change. Your story could be just the thing that someone else like you needs to hear.

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September marks Sickle Cell Awareness Month, a critical time to reflect on the challenges faced by those living with sickle cell disease (SCD), a rare but devastating condition that predominantly affects Black communities.

Despite being classified as a rare disease, SCD is relatively common within Black Afro-Caribbean populations, with approximately 15,000 people affected in the UK alone. The current policy landscape for SCD and other inherited disorders is fraught with challenges; and the existing parliamentary efforts, while commendable, have proved insufficient.

Action and policy reform on sickle cell disease

The recent ‘No One’s Listening’ report by the All-Party Parliamentary Group (APPG) on sickle cell and thalassaemia exposed significant shortcomings in the care provided to SCD patients; highlighting inadequate training among healthcare professionals, a lack of investment in SCD services and low awareness of the disease. The NHS Race and Health Observatory’s Sickle Cell Digital Discovery report also identified the negative attitudes experienced by patients and the inconsistent quality of care during sickle cell crises.

Addressing blood donation shortages

The NHS recently announced a critical shortage of blood donations, particularly from Black donors, which has severe implications for SCD patients. Regular blood transfusions are often a lifeline for SCD patients, helping to prevent severe complications such as acute chest syndrome and organ damage.

The new Government’s pledge to reduce
health disparities must translate into
investment for treating illnesses such as SCD.

Funding and investment disparity

The lack of funding and investment in SCD care and research has highlighted the broader health inequalities that exist in the UK’s healthcare system. The new Government’s pledge to reduce health disparities must translate into investment for treating illnesses such as SCD.

Policy recommendations for the Government

1. Comprehensive training for healthcare professionals: Mandatory training on SCD for all healthcare professionals is essential. This training should be integrated into medical and nursing education and be required for all practising clinicians.
2. Increased funding and investment: The Government must allocate additional resources to SCD research, treatment and care. This includes funding for specialist clinics, access to new and effective treatments and ongoing research into potential cures.
3. Standardised care across the NHS: The Government should ensure that all 42 Integrated Care Systems (ICS) across the UK commission SCD services, providing a uniformly high standard of care. This would eliminate the current postcode lottery, ensuring that all SCD patients receive the care they need, regardless of where they live.

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Enrico Piccinini

Head of Europe and International Rare Diseases, Chiesi Global Rare Diseases

 Inflation and rising public debt are creating barriers for the rare disease community to access the latest therapies.

Public healthcare budgets are being reduced, making access to new treatments difficult while stricter evidence requirements further limit availability across Europe. The lack of treatment availability, combined with the difficulties and delays in diagnosis of rare diseases, poses a societal challenge.¹

Burden of rare diseases is unacceptably high

Chiesi Global Rare Diseases (GRD) is a business unit of the Chiesi Group established to deliver solutions for people living with rare diseases. 

Last year, Chiesi GRD published the report ‘Rare disease burden of care and the economic impact on citizens in Germany, France and Italy’ as part of the PENDULUM EU project,  aimed to trigger action in Europe by encouraging a more refined approach to understanding rare diseases. 

The report found that the cost burden for rare diseases is significantly higher than for high-prevalence diseases, with rare diseases averaging €107,000 per patient per year compared to €7,000 for high-prevalence diseases. Indirect costs make up a substantial portion of this burden, averaging 29% when treatment is available, which rises to 45% when no treatment is available. These indirect costs are primarily shouldered by families and caregivers, creating broader economic impact.¹

Living with a rare disease comes with challenges for families and caregivers, including delays to diagnosis, managing the physical and emotional burden, finding  adequate support and loss of income and expenses associated with the condition.^1.2

Complementing the economic focus of the PENDULUM EU project, these challenges are highlighted through Chiesi GRD’s It’s Rare for Me special edition, launched in the UK, which offers a platform for people with rare diseases to share their stories. 

Accelerating treatment availability to alleviate burdens

To positively impact the future of the rare disease community, long-term changes need to be implemented at both the national and European levels. Technological advancements are enhancing the understanding and diagnosis of rare diseases as well as generating an increase in research funding. 

To support this, European pharmaceutical legislation should be revised to boost competitiveness and innovation in Europe. On a national level, payers need to adopt flexible payment models to ensure timely access to therapies.¹

“We urge all stakeholders to collaborate in finding solutions that enhance patient quality of life and outcomes. By improving funding, access and innovation for rare diseases, we can create positive value and reduce the significant economic burden.” 

UK-CHI-2400700 | September 2024

References
[1] Chiesi. Global rare diseases report: Rare disease burden of care and the economic impact on citizens in Germany, France and Italy. https://chiesirarediseases.com/assets/pdf/rare-disease-burden-of-care-and-the-economic-impact-on-citizens.pdf [Accessed September 2024]
[2] Mcmullan J, Lohfeld L, McKnight AJ. Needs of informal caregivers of people with a rare disease: a rapid review of the literature. BMJ Open. 2022;12(12):e063263

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With over 6,000 unique rare diseases¹ and limited patient populations, evidence to guide effective care is scarce. How can we create meaningful communications for people living with rare conditions and the wider community?

Rare diseases pose unique challenges for traditional communication. Real-world insights, global collaboration and personalised engagement can help address these issues.

Listen to lived experiences

Tell the personal stories of those living with rare diseases. These narratives can provide unique insights that help identify patterns in rare diseases that may not be evident from the limited clinical data available. As real-world experiences become increasingly important in healthcare, patient stories are crucial for conveying a deeper understanding in our communications.

Enhancing connectivity

Facilitate opportunities to share insights between stakeholders. Educational gaps and low awareness of rare diseases pose another significant challenge. The rarity of these conditions often leaves patients feeling isolated, with few opportunities to exchange experiences and gather support from others.

Locating healthcare professionals (HCPs) with expertise in a specific rare disease is also challenging, as reflected in the average time to a correct diagnosis (5–7 years).² The digital age presents the perfect opportunity to connect patients to patients, HCPs to HCPs and patients to HCPs. We must leverage this connectivity in our communications and provide the right channels to support global collaboration.

By focusing on the people at the heart of this complex
area of medicine, we can overcome its challenges.

Personalised engagement 

Provide tailored education. Rare diseases often necessitate care from various HCPs due to their complex and multifaceted nature. A one-size-fits-all approach to education fails because each speciality plays a unique role in the healthcare journey, supporting the need for speciality-specific information.

For instance, it is unrealistic to expect a general practitioner (GP) to provide a definitive diagnosis during an initial visit. However, GPs do need practical guidance on recognising red flag symptoms that could raise suspicion of a rare disease, so they can successfully refer patients to specialists. Patients also require tailored education that can empower them to take control of their condition, presented in a clear, accessible manner without excessive jargon.

People, not statistics

By focusing on the people at the heart of this complex area of medicine, we can overcome its challenges. At AMICULUM (a healthcare communications agency with specialist expertise in rare diseases), we are passionate about engaging with the rare disease community to deliver meaningful communications that drive real progress for those living with rare conditions.

[1] Nguengang Wakap S et al. Eur J Hum Genet 2020;28:165–173.
[2] Rare Disease Impact Report: Insights from patients and the medical community. Available at: https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf (accessed August 2024).

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