$23 Billion Raised for Rare Disease Drug Development

By Roger Chriss, PNN Columnist

Monday, February 28 is Rare Disease Day, a global effort to recognize and raise awareness of rare diseases. The annual event has been held every year since 2008, but has taken on a new tenor amid Covid-19. Long Covid has become one of the biggest threats the coronavirus poses. But like rare diseases, long Covid is not often discussed in public health messaging about the pandemic.

The National Organization of Rare Disorders officially recognizes over 7,000 rare diseases. But the actual number is much higher. Each year some 250 new rare diseases are identified, and existing rare diseases like Charcot-Marie-Tooth disease and Ehlers-Danlos syndromes have new types and subtypes identified.

Rare diseases are often only familiar to the people who live with them and the specialists who treat them. For the goal of treatment to be met, rare diseases must be named and characterized. In Europe, a disease is classified as rare if it affects fewer than 1 in 2,000 people, while in the U.S. rare diseases are recognized as conditions that affect fewer than 200,000 people nationally.

They may be rare, but their impact is substantial. A recent study in the Orphanet Journal of Rare Diseases estimates that rare diseases affect 25 to 30 million people in the U.S. and more than 300 million people worldwide. Patients and their families have to endure a lengthy “diagnostic odyssey,” often at high financial and emotional cost.

The graphic below helps demonstrate the many barriers that a rare disease patient may encounter in getting a proper diagnosis, such as lack of knowledge about a disease, an overlap of symptoms, lack of diagnostic tests, and inaccurate test results.

According to the U.S. Government Accountability Office, the total cost of rare diseases in 2019 reached $966 billion, counting both direct medical costs and other indirect expenses such as loss of income. But research funding for rare disease has long been limited, in part because of the difficulty in diagnosing them.

Fortunately, that may be changing. A new report by the non-profit Global Genes estimates that nearly $23 billion was raised in 2021 from public and private sources to fund rare disease drug development. That’s a 28 percent increase over the money raised in 2020.

“Rare diseases continue to have a strong allure to investors, as evidenced by the significant capital raised in 2021 to advance companies and pipelines focused on rare conditions,” said Craig Martin, CEO of Global Genes. “We hope and expect that the sector will continue to be strengthened by the vast array of opportunities to advance promising biotechnologies, under expedited review, that can address the tremendous burdens and underlying causes of thousands of rare, genetic conditions currently without approved treatments.”

The past year saw many positive steps toward improving the diagnosis and treatment of rare diseases. Congress is considering the Speeding Therapy Access Today (STAT) Act of 2021,  which requires policy reforms at the FDA to speed up the development of treatments for rare diseases.

Although the STAT Act has yet to pass, the FDA has already taken action to address two rare diseases. The agency recently approved Pyrukynd (mitapivat) tablets to treat hemolytic anemia in adults with pyruvate kinase deficiency and Vyvgart (efgartigimod) for the treatment of generalized myasthenia gravis.

The past year also saw efforts to improve research and data collection for rare diseases. AllStripes added 100 rare disease research programs to its efforts, and RARE-X launched its initial set of data collection programs. And Rare Diseases International started its Collaborative Global Network for Rare Diseases to create a “a person-centered network of care and expertise” for people living with rare diseases.

But more work needs to be done. The EveryLife Foundation for Rare Diseases notes that 93% of rare diseases have no FDA-approved treatment. In some cases, the pathophysiology is not well understood and animal models do not even exist. In other cases, although the disease is known and treatments do exist, there are too few clinicians and too little financial support for patients.

For people with rare diseases, every day is “rare disease day.” Hopefully efforts to recognize and increase awareness of rare diseases will promote more progress in their diagnosis and treatment.

Roger Chriss lives with Ehlers Danlos syndrome and is a proud member of the Ehlers-Danlos Society. Roger is a technical consultant in Washington state, where he specializes in mathematics and research. 

What COVID-19 Teaches Us About Rare Diseases

By Roger Chriss, PNN Columnist

Sunday, February 28th is Rare Disease Day -- a day created to recognize and increase awareness of rare diseases that affect millions of people worldwide. This year that includes the effects of Covid-19 on the rare disease community.

The National Organization of Rare Disorders reports that there are over 7,000 rare diseases. A disease is considered rare in the U.S. if it affects fewer than 200,000 people; while in Europe a disease is classified as rare if it affects fewer than 1 in 2,000 people. Although each disease is rare, there are so many conditions that roughly 1 in 17 people are affected by a rare disease.

Rare Disease Day 2021 is occurring amid a pandemic. Covid-19 has increased awareness of medical problems like anosmia, a loss of sense of smell. In it congenital form, anosmia affects only 1 in 10,000 people, but now it is seen in millions infected with the coronavirus. For most, the loss of smell is temporary, but for some Covid patients it persists long after the initial infection.

“One might think that it is not important to be able to smell nature, trees, forests,” Evan Cesa told AP News. “But when you lose the sense of smell, you realize how truly lucky we are to be able to smell these things.”

Long Haul Covid

In a recent study, University of Washington researchers monitored 300 recovering Covid patients in the Seattle area and found that 30% reported worse health and quality of life in the wake of the illness. Some were unable to perform simple chores, lift heavy objects or walk for more than a short distance.

Chronic Covid syndrome (CSS), also known as long-haul Covid, seems to occur in about 10% of infected people. In addition to loss of smell, long haulers often have disabling fatigue, headache, shortness of breath, weakness and brain fog – symptoms that are strikingly similar to chronic fatigue syndrome (CFS/ME).

Research on how to manage long-haul Covid is looking at treatments already used for rare disorders. A clinical trial of low-dose naltrexone (LDN) is underway. LDN is sometimes used to treat refractory chronic pain conditions, and is being explored for lupus and obsessive-compulsive disorder.

The pandemic has created new challenges for the rare disease community. Accessing medical care amid a pandemic has been tricky, in particular for people whose immune function is compromised. And the handful of deaths associated with Covid vaccines has raised questions for people with severe thrombocytopenia (ITP), a rare platelet disorder.

Covid-19 is revealing what living with a rare disease is like. Some people with long-haul Covid are reluctant to disclose their condition, much as people with rare disorders often struggle with when and how to share information about their diagnoses.  

People with long haul Covid are struggling to gain recognition for their disability. As NPR reports, long haulers have asked the federal government for disability coverage, rights and protections -- but it's unclear if they qualify under the Americans with Disability Act.

While Covid-19 has increased awareness of rare diseases, it’s also slowing rare disease research and complicating care. This year, many Rare Disease Day events are being held online due to the pandemic.

Hopefully, Rare Disease Day in 2022 will take place in a post-Covid world.

Roger Chriss lives with Ehlers Danlos syndrome and is a proud member of the Ehlers-Danlos Society. Roger is a technical consultant in Washington state, where he specializes in mathematics and research.

Rare Disease Spotlight: Alexander Disease

By Barby Ingle, PNN Columnist  

February 28th is Rare Disease Day, a global effort to raise awareness about over 7,000 rare diseases and their impact on people’s lives. One of those rare diseases is Alexander disease, which is named after Dr. W. Stewart Alexander, the Australian physician who first described the condition in 1949.

Alexander disease is an autosomal dominant leukodystrophy, which are neurological conditions caused by anomalies in the myelin, a fatty substance which protects nerve fibers in the brain. It’s a rare genetic disorder that primarily occurs in infants and children.

Leukodystrophies are characterized by abnormalities in the brain’s “white matter” which lead to the formation of Rosenthal fibers -- abnormal clumps of protein that accumulate in the brain. Rosenthal fibers are also found in other neurological disorders, such as multiple sclerosis.

Alexander disease is progressive and usually fatal, especially when it develops in infants. The disease occurs in both males and females, and there are no ethnic, racial, geographic, cultural or economic differences in its distribution. It can strike anyone.

The most common type of Alexander disease usually begins during the first 2 years of life. Most children with the infantile form do not survive past the age of six. Juvenile and adult-onset forms of the disease have a slower, lengthier course.

People who develop symptoms later in life may not be aware they have Alexander disease and are often misdiagnosed. Symptoms include excessive vomiting, difficulty swallowing and speaking, poor coordination, pain and loss of motor control. These symptoms mimic those of Parkinson’s disease and multiple sclerosis, or they may be seen as a psychiatric disorder.

For children with Alexander disease, there are delays in mental and physical development, often followed by an abnormal increase in head size and seizures. Chronic pain is a daily occurrence. There is no cure for Alexander disease, but there are treatments that focus on keeping patients comfortable and minimizing symptoms.

Recent studies show approximately 90 percent of people with Alexander disease have a mutation in the gene that makes glial fibrillary acidic protein (GFAP), a protein found in the brain. In most cases these mutations occur spontaneously and do not appear to be inherited from parents.

Current research is aimed at understanding the genetic mutations that cause Alexander disease, developing better animal models for research purposes, and exploring new strategies for treatment. Researchers are also looking for biomarkers for the disease, which would be a major advancement in diagnosis and early treatment.  

There are support groups for patients and families affected by Alexander disease, such as the United Leukodystrophy Foundation. You can find more information on Alexander disease and other rare conditions at the National Organization for Rare Disorders.

Barby Ingle lives with reflex sympathetic dystrophy (RSD), migralepsy and endometriosis. Barby is a chronic pain educator, patient advocate, and president of theInternational Pain Foundation. She is also a motivational speaker and best-selling author on pain topics. More information about Barby can be found at her website.

Be Strong and Proud on Rare Disease Day

By Roger Chriss, PNN Columnist

This coming Saturday, February 29 is Rare Disease Day worldwide. The day recognizes thousands of rare diseases and disorders that together impact millions of people worldwide, both patients and their caregivers.

The goal of the day is to raise the profile of the rare disease community and to spread the word: “Rare is many, rare is strong and rare is proud!”  

According to the National Organization of Rare Disorders (NORD), there are over 7,000 rare diseases that are chronic, progressive, degenerative, disabling and frequently life threatening. Many rare diseases are familiar to chronic pain patients, from Trigeminal Neuralgia and Chiari Malformations to Porphyria and Ehlers-Danlos syndrome.

A disease is considered rare in the U.S. when it affects fewer than 200,000 people, while in Europe a disease is rare if it affects fewer than 1 in 2,000 people.

Because there are so many disorders, a total of 300 million people worldwide are thought to be affected by rare diseases. And though each disease is unique, many share common features like chronic pain and limited mobility, and require complex medical care.

Events are planned throughout the week leading up to February 29. NORD is hosting a variety of events, including a gathering at the International Spy Museum in Washington, DC on Saturday.

The FDA held a public meeting on Monday to update stakeholders in the rare disease community on the agency’s efforts to improve treatment for rare diseases. That includes a new request for applications to its Orphan Products Grant Program, which funds clinical trials of so-called “orphan” drugs that could potentially be used to treat rare diseases.

The National Institutes of Health is coordinating panel discussions on Friday, February 28 in Bethesda, MD to improve diagnosis and treatment, expand clinical trial resources, and increase awareness of rare diseases.

In all, NORD lists over 400 events in 106 countries marking Rare Disease Day, including conferences, research presentations, exhibits, walks, rallies and a variety of fundraisers.

Rare Disease Day started in 2008 with the first events held in Canada and Europe. The date February 29 was chosen because it is rare (Rare Disease Day is on February 28 in non-leap years).

Treatment Often Limited

Rare diseases and disorders often go undiagnosed and untreated. Due to their rarity, expertise, treatment and resources are limited for people living with a rare disease, who can also face discrimination at work and school.

Research on rare diseases can actually help improve understanding of more common disorders and lead to new treatments. For instance, Yale neuroscientist Dr. Stephen Waxman discovered the gene SCN9A and its role in two painful hereditary neuropathies. Treatments for these disorders may help people with many other forms of peripheral neuropathy, as Waxman explains in his book, “Chasing Men on Fire.”

Moreover, rare diseases are often misunderstood. They do not look like typical illness and may require unusual forms of medical care. So Rare Disease Day also represents a chance to raise awareness about the importance of research, specialist centers, and healthcare professionals who work on such disorders.

Although most rare diseases do not have a cure, they can all be managed and patient lives improved. Rare Disease Day is an opportunity to focus on promising research, improving patients’ lives, and promoting action.

Roger Chriss lives with Ehlers Danlos syndrome and is a proud member of the Ehlers-Danlos Society. Roger is a technical consultant in Washington state, where he specializes in mathematics and research.

A Recap of Rare Disease Week on Capitol Hill

By Barby Ingle, PNN Columnist

Last week was Rare Disease Week on Capitol Hill, and I was excited to join hundreds of patients, advocates and caregivers in Washington, DC to raise awareness about rare diseases.

I was once again chosen as the Arizona “team leader” by the EveryLife Foundation, and led our group in meetings with our Senators and Representatives. I handled logistics for the legislative conference, helped organize the strategy for the meetings and kept the group on task during our discussions.

The EveryLife Foundation is a science-based advocacy organization that works to bring lifesaving treatments to 30 million Americans with rare diseases. There are more than 7,000 rare diseases. The foundation’s focus is on educating and advocating for rare disease patients to ensure they are heard by policy makers in government and by healthcare organizations.

The week kicked off on Sunday with a cocktail reception and Rare Disease documentary screening at the Ronald Reagan Building. We spent Monday at a legislative conference, where we heard from industry lobbyists about important federal bills and learned how the National Institutes of Health (NIH) is researching new treatments for rare diseases.

On Tuesday we split up and went to scheduled meetings with our members of the House and Senate on Capitol Hill. This day of lobbying was for patients, caregivers, and patient advocacy groups only.

Patient and fellow advocate Mike Heil joined me and my husband Ken as we visited the offices of Sen. Kyrsten Sinema (D-AZ), Sen. Martha McSally (R-AZ) and Rep. Paul Gosar (R-AZ).

One of my favorite parts of the week was Wednesday, when there was a briefing by the Rare Disease Congressional Caucus at the Dirksen Senate Office Building. The caucus is a bipartisan group of over 100 senators and representatives that meets to pursue common legislative objectives to help rare disease patients. You don’t hear much about bipartisanship these days on Capitol Hill, but this group has been active since 2010.

The caucus meeting was followed by a reception that featured a collection of art from across the rare disease community. This event was designed to help educate Congress about rare diseases and to empower patients to express their pain through artwork.

Thursday was full of action as we gathered at the NIH headquarters in Bethesda, MD to mark the global observance of Rare Disease Day. The day featured multiple interactive panel discussions on rare disease research, patient registries and cancer research initiatives, with the theme being "no disease left behind, no patient left behind."

Other highlights included posters and exhibits by rare disease groups and researchers as well as artwork, videos and campus tours. Global Genes participants were encouraged to wear their favorite pair of jeans and to use the social media tag, #RDDNIH to help raise awareness.

This was my second time participating in Rare Disease Week on Capitol Hill. I hope you join me in person or online next year for Rare Disease Week 2020. For more information on the next event, visit the website of Rare Disease Legislative Advocates (RDLA).

Barby Ingle lives with reflex sympathetic dystrophy (RSD), migralepsy and endometriosis. Barby is a chronic pain educator, patient advocate, and president of the International Pain Foundation. She is also a motivational speaker and best-selling author on pain topics.

More information about Barby can be found at her website. 

The information in this column should not be considered as professional medical advice, diagnosis or treatment. It is for informational purposes only and represents the author’s opinions alone. It does not inherently express or reflect the views, opinions and/or positions of Pain News Network.