What Are Rare and Orphan Diseases and Why They Matter?

Rare and orphan diseases affect millions, yet they remain unfamiliar to many. While most people may not encounter these conditions directly, understanding their impact is critical for advancing healthcare.

These diseases often go under-researched and untreated, leaving patients vulnerable. With advancements in medicine and technology, there’s a growing focus on finding solutions.

In this blog, we’ll understand what rare and orphan diseases are, and why they matter. Moreover, we’ll also look at why early diagnosis is crucial and what happens when legal rights or treatments are delayed or proven inadequate.

What Makes a Disease Rare or Orphan?

In the US, a disease is deemed rare if it impacts fewer than 200,000 individuals. The term “orphan disease” is a subset of rare diseases “orphaned” by the pharmaceutical industry. Meaning, it is a condition that lacks sufficient treatment options because pharmaceutical companies don’t see a large enough market to justify investment.

As a result, patients with these diseases struggle to find adequate treatments. Orphan diseases also face regulatory hurdles, as limited research and development efforts further delay the discovery of effective therapies. The Cleveland Clinic reports about 7,000 known rare diseases collectively affect over 300 million Americans, including children. That's nearly 1 in 10 people! Despite their collective impact, these conditions often fly under the radar in medical education and research.

Why Is Early Diagnosis Crucial for Rare Diseases?

One of the major obstacles in rare disease management is the lack of early diagnosis. Conditions such as cystic fibrosis or phenylketonuria (PKU) can be life-threatening if not diagnosed early. Newborn screening programs are crucial in detecting these diseases shortly after birth.

For example, many hospitals in the U.S. now offer newborn screenings to identify over 30 different rare conditions. Moreover, Mayo Clinic states that all states in the US have mandated these screenings. Each state has its screening criteria, and hence, the lineups will have different procedures. However, national recommendations include a panel of 35 primary illnesses and 26 secondary conditions.

Necrotizing Enterocolitis is a prime example of a rare disease with severe consequences. Primarily affecting preterm infants, NEC can lead to inflammation and bacterial invasion of the intestines, sometimes requiring surgery. In extreme cases, infants may suffer from long-term complications like intestinal scarring or even death.

Despite its rarity, NEC is one of the ten leading causes of death in infants. A contributing factor to this figure is administering cow milk-based baby formula. TorHoerman Law reveals that this product can increase the risk of NEC in preterm infants compared to breastfeeding. The illness can rapidly escalate to severe infection and septic shock, presenting a considerable threat to the baby.

This makes timely medical intervention critical for a better outcome. Many families have sought justice through lawsuits. Some hold medical professionals accountable for misdiagnosing or mistreating their children. Others challenge the manufacturers for providing inferior products. In a recent NEC lawsuit update, Abbott Laboratories, manufacturer of Similac, was ordered to pay nearly $500 million in damages.

Such events highlight the pressing need for the development of orphan drugs. A turning point happened when Noveome Biotherapeutics received Rare Pediatric Disease Designation (RPDD) and Orphan Drug Designation (ODD) from the FDA in 2022.

According to their website, their product ST266 can treat NEC and was being studied in various early-phase animal testing. Moreover, the company also sought to initiate clinical trials for the medication to combat NEC.

This breakthrough encourages pharmaceutical companies to prioritize rare diseases. By offering tax breaks and extended patent protection, we can incentivize the development of much-needed medications.

What Is Orphan Drug Development, and What Is Its Impact?

Orphan drug research is crucial for providing remedial solutions to those with rare diseases. Without these drugs, many patients would have no effective therapies available. As of present, over 90% of rare diseases are without an FDA-cleared treatment.

To address this shortcoming, the US government enacted the Orphan Drug Act (ODA) in 1983. As per the act, a company can apply for an FDA orphan drug designation. If approved, the company can enjoy several incentives to develop orphan drugs. Some of these include research funding, tax exemptions for qualified clinical research, and a longer period of market monopolization.

This helps balance the financial risks that companies face when creating treatments for smaller patient populations. According to Johnson & Johnson, this act has led to the approval of over 650 orphan drugs since its inception. Before the ODA, the FDA only authorized 38 orphan drugs. Despite these incentives, challenges remain. Access to orphan drugs can be limited, even after they’re developed. High costs and complex distribution networks make it difficult for some patients to obtain necessary treatments.

This issue is exacerbated in rural areas, where access to healthcare providers specializing in rare diseases is limited. Developing solutions to this issue is necessary for ensuring that orphan drugs fulfill their intended purpose.

Economic Impact and Future Outlook

The socioeconomic implications of rare diseases are profound. Healthcare costs can be astronomical, and loss of productivity affects both patients and caregivers. However, there's a silver lining. Avalere Health notes that distribution strategies for rare disease therapies are evolving to meet the unique needs of these patient populations.

One such strategy involves setting up rare disease centers of excellence (COEs). These establishments provide intensive care for patients in a rare disease therapeutic zone. Thanks to the growing investment in orphan drug development, patients can expect more treatment options in the future.

Rare and orphan diseases may only impact a tiny fraction of the people, but their impact is enormous. By understanding them, we can foster a more inclusive healthcare environment. As the medical community researches and develops treatments for these conditions, early diagnosis, and awareness remain critical in protecting vulnerable patients.