Rare disease treatment is characterized by its numerous challenges, stemming from an overall lack of awareness across the healthcare landscape. This issue becomes a waterfall, trickling down and affecting crucial nodes of the healthcare value chain, such as regulations, existing healthcare infrastructure, and affordability, before it can even potentially reach patients. Hence, the cooperation of the public and private sectors with a firm basis in knowledge sharing and education is required to alleviate these multifaceted challenges brought from a lack of awareness.

The Root of Awareness  

Rare diseases are defined by their generally low population impact, with many markets agreeing to a ratioed figure, such as one patient per every 2,000 in a population. The rarity of such diseases results in a lack of awareness among both the general public and the healthcare practitioner community. This awareness gap translates into a significant challenge in patients receiving an accurate diagnosis. Combined with the relatively few specialized medical personnel for such diseases, this can lead to misdiagnosis or delayed referrals, resulting in an average time to receive a final diagnosis of up to 5 years. By this time, some rare diseases can cause significant distress, such as Leber hereditary optic neuropathy (LHON), which can cause vision loss in a matter of months if left untreated.

Patients face a journey of medical uncertainty, fiscal difficulties, and personal challenges. These issues are often exacerbated by healthcare systems that struggle to accurately and promptly diagnose such rare conditions.

Point-to-Point Hurdles in Medication Access

Across markets, the rare disease medication issue also has to contend with more tangible and operational concerns stemming from the lack of awareness. From a regulatory standpoint, the lack of rare disease understanding can lead to regulations being under equipped to address medication access. This is doubly so for more challenging regulatory landscapes, such as across APAC’s complex and fragmented market environment, where general healthcare accessibility can already prove to be a hurdle due to a combination of socioeconomic and geopolitical factors. This can lead rare diseases and their medications to be an underserved area, while more widely common health concerns are prioritized.

A key driver of healthcare access is the underlying infrastructure powering the supply chain, ensuring the distribution of medication to patients. Similar to regulations, supply chain systems can vary vastly in complexity, particularly when across challenging geography and when specialised logistics, such as cold chain solutions, are needed to handle sensitive medication. These can culminate in much-needed investment into supply chain infrastructure. For example, in APAC markets, such as Thailand, DKSH has established a network of satellite distribution centers that can provide last-mile delivery of sensitive medications to underserved areas in a short period of time.

Regulatory complexities and supply chain infrastructure aside, the barrier to rare disease medication accessibility most often felt by patients is the affordability of treatments. The high cost of rare disease treatment options is critical, with some reaching over a million dollars for annual or one-time treatment. The issue of cost is more amplified in regions like APAC, where many markets have less robust public health insurance or social support systems, placing a financial strain on patients, even when access is just within reach.

This collection of barriers to accessing rare disease medications can be daunting from the outset. As a challenge of global concern, addressing it requires a unified approach that combines in-market and industry expertise, all in service of bringing medication to underserved patients.

The Power of Collaboration

The unique challenges of rare diseases are too great for any single entity to tackle alone. Bridging this gap through collaboration is paving the way forward, with public-private partnerships (PPPs) emerging as a core means for success. These partnerships bring together government agencies, pharmaceutical companies, academic institutions, and patient advocacy groups to share expertise, resources, and risk. For instance, in the APAC region, initiatives like the APEC Action Plan on Rare Diseases have provided a framework for member economies to accelerate efforts in this area, including the promotion of multisectoral collaborations. Regional alliances, such as the Asia Pacific Alliance for Rare Disease Organizations (APARDO), have done valuable work in collaborating with advocacy groups to raise awareness about these conditions. On an organizational level, there are also healthcare partners, such as DKSH, who work with firms, such as Kyowa Kirin, to bring rare disease medications to markets by utilizing in-market and regulatory expertise. Moreover, DKSH’s local teams have strong market knowledge, enabling them to offer clients and customers expert advice on local regulation.

This collaborative approach is crucial for streamlining the regulatory process for rare disease medications, also known as orphan drugs. Governments, including many in Asia, have introduced specific regulations and incentives to encourage the development of rare disease medication. These include Orphan Drug Designations (ODD) that provide much-needed support, such as tax credits for clinical research. Beyond these incentives, regulatory bodies are considering a greater reliance on evidence from expanded access programs. This allows for the use of data from a smaller patient pool, which is often the only available source of information for such rare conditions, thereby accelerating the review and approval process.

From a patient perspective, financial aid is of vital importance and an area where collaboration is key. The high cost of treatments for rare diseases necessitates innovative funding models beyond traditional public insurance. One effective model gaining traction in APAC is the establishment of dedicated funds, supported by a combination of public and private contributions. Singapore’s Rare Disease Fund (RDF) is a prime example, where community donations are matched by the government at a significant ratio. This model provides long-term financial support for patients, while encouraging a sense of shared responsibility across society. Similarly, patient access schemes and managed access programs are being implemented to ensure affordability and controlled access to therapies before full reimbursement is in place. These schemes can be tailored to individual patient needs and help bridge the gap between regulatory approval and widespread access.

Ultimately, the future of rare disease medication accessibility rests on a unified, multi-stakeholder ecosystem. By building on collaborative frameworks, optimizing regulatory pathways, and pioneering innovative funding mechanisms, the healthcare landscape can be transformed. Beyond raising awareness, there is an opportunity to create a robust, equitable, and sustainable system that ensures no patient is left behind, regardless of the rarity of their condition.

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In summary, those with AMD have a higher risk for COVID-19 infection and severe disease. This increased risk has a genetic basis.

What is macular degeneration?

Age-related macular degeneration (AMD) is an eye condition that can worsen over time. AMD is the leading cause of severe, permanent vision loss in older individuals.

The macula wears down in AMD. The retina is the nerve tissue — at the back of the eye — that senses light.

AMD occurs when the small central portion of your retina, the macula, wears down. The retina is the nerve tissue that senses light and is at the back of your eye.

Below are fundus photographs of the right eye (top image) and left eye (bottom image), seen from the front so that the left in each image is to the person’s right. The gaze is on the camera, so the macula is in the center of the image in each picture. The optic disc is towards the nose.

Because AMD occurs with increasing age, it is often called age-related macular degeneration. While AMD doesn’t usually cause blindness, it might cause severe visual loss.

Another macular degeneration form (Stargardt disease or juvenile macular degeneration) affects children and young adults.

COVID-19 and macular degeneration

Scientists have discovered a genetic link between COVID-19 infection and age-related macular degeneration.

COVID-19 and AMD are associated with variations in the PDGFB gene. This gene has a role in new blood vessel formation (and is linked to abnormal blood vessel changes that occur with age-related macular degeneration).

Researchers analyzed genetic data from over 16,000 individuals with age-related macular degeneration, more than 50,000 people with COVID, and control groups. Here is Boston Univerity researcher Lindsay Farrer, Ph.D., chief of biomedical genetics, speaking in a news release:

“Our analysis lends credence to previously reported clinical studies that found those with AMD have a higher risk for COVID-19 infection and severe disease, and that this increased risk may have a genetic basis.”

Prior research showed that those with AMD have a 1.25 times increased risk of respiratory failure or death due to COVID, which is higher than other well-known risk factors such as type 2 diabetes (21 percent) or obesity (13 percent), according to the current researchers.

Reducing your AMD risk

I want to end with something actionable. How can you reduce your risk of getting age-related macular degeneration? The US Centers for Disease Control offers some tips:

• Tell your eye doctor about your family history.
• Get regular eye exams.
• Don’t smoke.
• Have a good cholesterol level

The Age-Related Disease Studies found that getting certain vitamins and minerals every day may slow the progression of the disease from the early or middle stages to the later stages. Specifically, combinations of the following vitamins can reduce the risk of late AMD by one quarter (25 percent):

• Vitamin C
• Vitamin E
• Beta-carotene
• Zinc
• Copper

Green, leafy vegetables contain large amounts of many of these vitamins. For those with AMD progression to later stages, therapeutic interventions may include laser treatment or injections.

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Age-related macular degeneration (AMD), or macular degeneration, is a common eye disorder. AMD results from the macula’s deterioration, a small area in the middle of the retina at the back of the eye.

Historically, clinical trials showed that supplements could slow the progression of age-related macular degeneration. Now comes a new study confirming this observation, albeit with a newer supplementation formulation.

We begin with macular degeneration basics before turning to positive new results.

What is age-related macular degeneration?

Macular degeneration is a common eye disorder. Deterioration of the macula, a small spot in the back of the eye, is the cause.

Macular degeneration can result in central vision loss; you may have trouble seeing what is in front of you as you look forward. At the end of this short video, you will see the visual field of someone with age-related macular degeneration:

As you can see, macular degeneration doesn’t affect your peripheral vision.

Macular degeneration is common: Approximately 11 million Americans have the disease. Age-related macular degeneration is the leading cause of visual loss.

There are two types of macular degeneration:

• Dry macular degeneration (affects 85 to 90 percent of those with macular degeneration). Occurs because of small yellow deposits (drusen) that develop under the macula.
• Wet macular degeneration results from abnormal blood vessels developing under the retina and macula.

Here are some risk factors for age-related macular degeneration:

• A diet rich in saturated fat (for example, meat, cheese, and butter) raises risk. On the other hand, fruits, vegetables, and nuts can reduce risk.
• Being overweight may be a risk factor
• Cigarettes
• Age over 50 years
• A family history of age-related macular degeneration.
• High blood pressure
• Heart disease
• High blood pressure or high cholesterol
• Race. Whites have the highest risk, followed by Chinese and Hispanic people and African-Americans with the least risk. Whites are also more likely to go blind from age-related macular degeneration than African-Americans.
• Ultraviolet ray exposure (for example, from sunlight)

Age-related macular degeneration treatment

Unfortunately, treatment for age-related macular degeneration cannot restore vision. On the other hand, intervention may slow vision loss.

Dry AMD

There is no good treatment for dry age-related macular degeneration. However, management tools include choosing larger print books (larger screen font sizes), using a magnifying device, or optimizing lighting.

Wet AMD

There are management strategies that may slow the rate of progression of age-related macular degeneration. I won’t go into too much detail here, but refer you to this Medicalnewstoday reference:Age-related macular degeneration (AMD): Symptoms and treatmentMacular degeneration affects the retina, a layer at the back of the eyeball. This layer contains light-sensitive cells…www.medicalnewstoday.com.

Macular degeneration risk reduction

While prevention is not assured, you may lower your macular degeneration risk by eating well, getting physical activity, not smoking, and getting regular eye tasks.

You may also lower your risk of age-related macular degeneration by wearing sunglasses that block ultraviolet (UV) rays to protect your eyes.

Some research points to increasing omega3 polyunsaturated fatty acids, especially docosahexaenoic acid and eicosapentaenoic acid, possibly dropping the risk of an early subtype of age-related macular degeneration.

Let’s look at new evidence suggesting that dietary supplements can lower the risk of macular degeneration progression.

Supplements and age-related macular degeneration

According to the Age-Related Eye Disease Studies (AREDS and AREDS2), supplements can slow the progression of age-related macular degeneration.

The AREDS2 formulation provided an additional one-quarter (26 percent) drop in the risk of age-related macular degeneration while not increasing lung cancer risk.

The AREDS1 supplement included beta-carotene. After scientists discovered an association between beta-carotene and lung cancer risk, the AREDS2 formulation substituted the antioxidants lutein and zeaxanthin for beta-carotene.

The original AREDS study showed that a dietary supplement formulation (500 mg vitamin C, 400 international units vitamin E, 2 mg copper, 80 mg zinc, and 15 mg beta-carotene) slowed AMD progression from moderate to late disease.

Alas, two concurrent studies also revealed that those who smoked and took beta-carotene had a significantly higher risk of lung cancer than expected.

For the AREDS2 clinical trial, researchers compared the beta-carotene formulation to one with the antioxidants lutein (10 milligrams) and zeaxanthin (2 milligrams) instead. Only those who never smoked (or had quit) could use the beta-carotene formulation.

Here are the results of the five-year AREDS2 study:

The AREDS2 formulation provided an additional one-quarter (26 percent) drop in the risk of age-related macular degeneration while not increasing lung cancer risk.

After the five-year study ended, researchers offered all participants the AREDS2 formulation.

Symptoms

Let’s end with some symptoms of macular degeneration. Dry macular degeneration symptoms usually develop gradually and without pain. Symptoms may include:

• Visual distortions (for example, straight lines appearing bent)
• Diminished central vision in one or both eyes
• The need for brighter light when reading or doing close-up work
• Increased challenges adapting to low light, for example, when entering a dimly lit restaurant
• Increased blurriness of printed words
• Decreased brightness or intensity of colors
• Challenges recognizing faces
• A well-defined blurry spot or a blind spot in your visual field

Let’s end with some risk-reduction tips from the good folks at WebMD:

• Check your vision daily by looking at an Amsler grid — a pattern of straight lines like a checkerboard. It can help you spot changes in your vision.
• Don’t smoke, eat a balanced diet with leafy green vegetables, and protect your eyes with sunglasses that block harmful ultraviolet (UV) rays.
• Supplements with antioxidants plus zinc may lower your risk of age-related macular degeneration.
• If you’re over 65, your vision exams should include testing for age-related macular degeneration.

Healthline adds two more:

• Maintain a healthy-for-you weight
• Exercise consistently, as much as you can

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