About

Referred to by NORD Founder Abbey S. Meyers as “the key to rare disease advocacy in Europe,” Yann Le Cam stepped down as Chief Executive Officer of EURORDIS – Rare Diseases Europe in March of this year. This milestone capped off 25 years at the helm of the organization he co-founded and grew into one of the world’s greatest beacons of rare disease advocacy.  

Yann’s journey began 34 years ago when the eldest of his three daughters was diagnosed with cystic fibrosis. Described by friends, colleagues, and collaborators as a strong, charismatic leader and a dreamer, Yann’s ability to organize and build international partnerships has yielded many accomplishments of deep importance to the advancement of rare disease awareness and care globally. 

Yann’s early outreach to leaders and partner organizations laid the groundwork for what would become the European Organization for Rare Diseases (EURORDIS). At the French Senate in 1996, rare disease organizations from the UK, Denmark, Sweden, Italy, Spain, and France—joined by NORD Founder Abbey S. Meyers—advocated for a European Union Regulation on Orphan Medicines, which gave rise to the creation of EURORDIS in 1997. Today, EURORDIS – Rare Diseases Europe is a unique multi-national, multi-lingual, multi-cultural alliance of over 1,000 member organizations across 53 countries. They have established rare diseases as a sustainable public health priority and actively contributed to 10 EU legislations shaping the policy framework for diagnosis, treatments, support, and social inclusion of people living with a rare disease.  

Yann was critical in shaping national strategies for rare diseases in the EU and beyond and in designing the innovative 24 European Reference Networks for Rare Diseases. He helped initiate Rare Diseases International (RDI) in 2009, for which he is an elected member of the Council and Chair of the Advocacy Committee. He serves as a founding member and continuing Vice Chair of the United Nations Non-Governmental Organizations Committee for Rare Diseases and has also served as Co-Chair of the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease since its launch in 2018. Recently, he led the Rare 2030 Foresight Study that lays the foundation for a future European Action Plan for Rare Diseases. 

Most visibly, EURORDIS founded and grew Rare Disease Day® into an international day of awareness under Yann’s leadership. In 2024, 106 countries officially participated in Rare Disease Day®. For many in our community, this is the first day they make themselves truly visible to others to voice the challenges of living with a rare disease. For many others, it has become a day for impassioned and strategic advocacy. 

Yann Le Cam has left a lasting impact on NGOs in France, Europe, and the United States in the fields of cancer, HIV/AIDS, and rare diseases. The collaborations he forged will continue to deliver progress for years to come. 

Led by Executive Director Rigoberto Garcia, the Hemophilia Foundation of Southern California (Hemo SoCal) embodies a profound mission: to enhance the lives of those with inherited bleeding disorders. Their approach is simple but profound: they see individual healthcare and community support as inseparable, recognizing that rare disease care extends to the entire family. Hemo SoCal is relentless in their commitment, offering holistic care and empowering underserved communities through education and access to vital health programs.  

Nowhere is their impact more visible than at their signature event, Familia de Sangre, held each September in partnership with the Central California Hemophilia Foundation, the Hemophilia Association of San Diego County, and the Hemophilia Foundation of Northern California. Familia de Sangre is the largest bleeding disorders conference conducted fully in Spanish, ensuring that the complex details and nuances of living with a bleeding disorder and seeking treatment are not merely translated but heard in one’s native tongue. As a result, thousands of people have received this important and life-saving information. 

While the organization takes pride in how far it has come over its 70-year history, the team constantly looks to create new and innovative pathways to address rare disease needs and empower those they serve to lead full lives. Hemo SoCal provides whole person care programming, including nutrition education, physical activity education, and comorbidity management. They host an Industry Forum to educate the community about new medications. Recognizing that different groups have different needs, they created a Women’s Retreat, a Men’s Retreat, a camp for New Families, and Camp Blood Brothers & Sisters, where youth learn how to be independent and self-infuse their medications. 

At the end of the day, Executive Director Garcia sees Hemo SoCal as small but mighty, referring to himself as “a health educator with a fancy title.” This humble and inclusive approach is key to guiding Hemo SoCal’s focus on building strong communities, fostering collaborative partnerships, and providing meaningful support for people with bleeding disorders, their families, and their communities. 

Rare diseases present some of the biggest challenges in scientific research and health care policy, yet U.S. Representative Gus M. Bilirakis is tackling the work head on. Throughout his career, Congressman Bilirakis has advanced numerous policies paving the way for progress.  

First elected to the House of Representatives in 2006, Congressman Bilirakis currently represents Florida’s 12th Congressional District and serves as a senior member of the Energy and Commerce Committee.  Within this critical committee, Congressman Bilirakis serves as the Chairman of the Innovation, Data and Commerce Subcommittee, as well as a senior member on both the Health Subcommittee and the Communications & Technology Subcommittee. He has authored 83 bills that have been signed into law since 2015, helping him earn the designation of the Most Effective Republican Lawmaker in the State of Florida by the Center for Effective Lawmaking at Vanderbilt University. Importantly, he has championed rare disease issues throughout his decades long career in public service. 

As Co-Chair of the bipartisan Rare Disease Caucus, Congressman Bilirakis advances the understanding that rare diseases are not a rare problem but a shared problem deserving of legislative solutions for the more than 30 million Americans living with a rare disease, the vast majority of which lack FDA-approved therapies. Congressman Bilirakis is committed to increasing access to quality health care, incentivizing pathways for new treatments, lowering the cost of prescription drugs, and strengthening the viability of Social Security and Medicare—all priorities that serve his work as a champion for the rare disease community.  

During the 118th Congress, Congressman Bilirakis has co-led the Creating Hope Reauthorization Act, which would reauthorize the much-needed Pediatric Rare Disease Priority Review Voucher program, and the RARE Act, which would cement key incentives in the landmark Orphan Drug Act. He has also co-sponsored the Accelerating Kids’ Access to Care Act, which would make it easier for children covered by Medicaid to receive expert care across state lines, and the Safe Step Act, which would reform the unnecessary and harmful practice of step therapy.   

NORD thanks Congressman Bilirakis for his steadfast commitment to elevating issues of importance to the rare disease community and supporting common-sense rare disease legislation that protects patients and spurs research into new therapies. 

Representative Liz Reyer, a long-time resident of Eagan, Minnesota, discovered a passion for rare disease policy when she joined the Minnesota House of Representatives in 2021. She quickly became an ally for her constituents with rare diseases who often face challenges obtaining quality, affordable healthcare and is dedicated to working toward a future in which people with rare diseases have affordable and prompt access to all the technological and treatment advances in rare disease care.  

Representative Reyer has been instrumental in the passage of a number of bills related to rare diseases, including championing laws establishing Minnesota’s Rare Disease Advisory Council (RDAC) as a state agency; requiring insurance and Medicaid coverage for the use of biomarkers in diagnosis and treatment planning; and, leveraging data from Minnesota’s RDAC survey, shortening the diagnostic odyssey by removing insurance barriers that prevent rare disease patients from seeing out-of-network specialists, a change that took effect on January 1 of this year.  

Representative Reyer serves on the Minnesota RDAC, which due to its accomplishments serves as a model for other RDACs in existence or under formation across the country. Representative Reyer is inspired by those in the rare disease community in Minnesota, including Erica Barnes, the Executive Director of the Minnesota RDAC, who has channeled her grief over losing her daughter to a rare disease into work that is helping thousands of other patients and families living with rare diseases. She also points to the partnership and advocacy work of Minnesota physician Dr. Paul Orchard, professor at University of Minnesota and rare hematology and oncology expert at M Health Fairview Masonic Children’s Hospital, a NORD® Rare Disease Center of Excellence. 

Representative Reyer has a steadfast commitment to ensuring that more elected officials take up the call to shape public policy relevant to the rare disease community and is working to ensure continued collaboration among all stakeholders in advancing rare disease awareness and care—including patients, families, researchers, health care providers, and legislators.  

When it comes to genetics, Dr. Jose Abdenur believes there’s never been a more exciting time in history than now. Reflecting on a career that has spanned four decades, Dr. Abdenur’s advice to the next generation is that the work will be very hard, but the incredible positive impacts for rare disease patients and families make it highly worthwhile – as it has been for the communities and patients he serves.  

After completing his initial medical training in his home country of Argentina, where he “fell in love with organic chemistry,” Dr. Abdenur came to the United States in 1988 and pursued additional specialized education at North Shore University Hospital in New York, the University of Colorado, and Mt. Sinai Hospital in New York. Though he returned home to Argentina in the late 1990s, the country’s significant economic troubles soon found him back in the United States at Children’s Hospital of Orange County (CHOC) in California.  

Dr. Abdenur recognized a gap in services for children with rare diseases in the highly populated area between Los Angeles and San Diego, and – with critical grant funding and CHOC’s support – laid the foundation for CHOC’s Division of Metabolic Disorders and The Metabolic Laboratory, which would become one of the leading laboratories of its kind in the country under his leadership as Director. The doctors at CHOC have been at the cutting edge of research and treatment, identifying some of the rarest diseases associated with inborn metabolic disorders and offering some of the only specialized treatment programs on the West Coast. Today, they are one of the largest referral centers for the California newborn screening program and rare metabolic patients from around the world travel to CHOC for treatment.  

Over the past 20 years, Dr. Abdenur worked tirelessly to establish key partnerships and collaborative relationships, to recruit and train dedicated clinicians and teams in diagnostic and research labs, and to develop formal education programs to train future generations of potential leaders in the field. Dr. Abdenur is one of the Principal Investigators for the Southern California Center for the Undiagnosed Disease Network and a founding member of the NORD® Centers of Excellence, a first-of-its-kind network of 40 leading medical institutions in the United States – including CHOC and UCI – that are diagnosing, treating, and researching all rare diseases.   

As he begins to look toward retirement, Dr. Abdenur believes the strong foundation of the Clinical, Laboratory, Research, and Education programs at CHOC will help cement a brighter future for advancing science that will improve people’s lives today and for decades ahead.  He sees this as the most important legacy of his lifetime. 

“Why are we debating giving every baby a healthy start?” This simple question fuels the tireless work of rare mom Jana Monaco. Jana’s journey started 23 years ago when her then three-year-old son went into a major metabolic crisis. Despite a grim prognosis, he survived, but he suffered a severe brain injury as a result. His condition, isovaleric acidemia (IVA), could have been caught at birth and treated proactively but was not on Virginia’s newborn screening panel, despite being on other states’ panels.  

During this time of difficulty and uncertainty, Jana was also preparing to welcome her fourth child. An early amniocentesis—administered in utero—detected the same disorder, a diagnosis that afforded her daughter the care she needed from birth to avoid the trauma her big brother suffered. Today, she is leading a healthy and symptom-free life. 

While striving to accept that her son’s situation could have been prevented, Jana knew she could help spare other families the pain hers had endured. Finding and connecting with others who had faced similar circumstances provided inspiration for her to get to work. She started educating herself and attending as many NORD conferences and events as possible. There, she met many friends and mentors who helped her realize she was more than “just a mom” and that her voice was as important as anyone’s, whether a fellow parent or national politician. 

As part of the Virginia Newborn Screening Advisory Committee, Jana has helped to pass new rules ensuring Virginia’s newborn screening panel tests for as many diseases as recommended by the federal government. The number of conditions for which newborns are screened in Virginia has now grown from eight to 33, which includes her children’s condition. Jana now serves as the NORD Rare Action Network® State Ambassador for Virginia and was a key player in developing the mission, vision, and values of Virginia’s Rare Disease Advisory Council (RDAC), legislation which passed unanimously in January 2021, and for which she served an initial two-year term as the council’s Vice Chair.  

Jana and her family host a special golf fundraiser every year on her son’s birthday, a celebration that continually brings the family and community together. And while she has received numerous acknowledgements and held many titles, Jana sees her work as the fulfillment of a promise she made to her son on life support 23 years ago: that he could have a voice, make a difference, and leave a lasting legacy.  

When describing his work in the rare disease community over the past 20 years, Irfan Patel adheres to NORD’s motto, “Alone we are rare, together we are strong.®”  Having two of his four children diagnosed with methylmalonic acidemia (MMA)—a rare genetic disorder in which the body cannot break down proteins and fats properly, resulting in abnormally high levels of acid in the blood and tissue—sparked his unwavering dedication to making a positive difference for others facing similar challenges.  

Irfan’s children’s condition was not originally on Delaware’s newborn screening panel; it was discovered in his oldest child only after a major metabolic crisis at the age of nine months. This led to a deep interest in reforming newborn screening protocols.  

Irfan first became involved in NORD’s Rare Action Network®, where he now serves as State Ambassador of the Delaware chapter. In this role, Irfan has consistently worked with the state to pass resolutions acknowledging Rare Disease Day® and has received the Governor’s Outstanding Volunteer Award in Social Justice and Advocacy. Earlier this year, he was appointed by Governor John Carney to Delaware’s recently formed Rare Disease Advisory Council (RDAC).  

But for all of his credentials and accolades, it is the grassroots community connections that hold special importance for Irfan. Recalling how difficult information was to come by 20 years ago instilled in him the importance of “leading from the front” as a guide for other rare families, especially immigrant families who might face additional barriers to information and care, given his own family’s background immigrating from India. As such, he has organized countless events in partnership with non-profit organizations, schools, places of worship, and interfaith alliances to raise awareness of the rare disease community and their needs.  

Next, Irfan hopes to take his message to the TED Talks stage to continue building awareness, providing education, facilitating collaboration, and closing persistent gaps—such as advocating for medical food coverage in the 13 states that still do not have it, including Delaware. 

In 2017, while at the National Institutes of Health for a series of clinical trials, Irfan was by chance diagnosed with the extremely rare CMAMMA himself. In the spirit of a true rare disease champion, he proudly sees this as a special commonality with his two rare children, giving new meaning to the motto, “Alone we are rare, together we are strong.” 

A grandmother’s love knows no bounds. Just ask Darlene Shelton, a force of nature spurred to make lasting and important change for individuals with rare diseases through her nonprofit, Danny’s Dose Alliance, for the protection of her three grandchildren with Hemophilia—Danny, Lilyan, and Zoey—along with every other affected family and their loved ones in the United States. Founded in 2015, this organization works to prevent morbidity and mortality for people with rare diseases and chronic illnesses who require specialized treatment or the administration of patient-carried prescription medications in emergencies. 

A convergence of circumstances laid the foundation for Danny’s Dose. First, Darlene’s young grandson was diagnosed with hemophilia B. Then, a family friend with hemophilia got in a car accident. He carried his own clotting factor and knew he needed it to prevent possibly life-threatening internal bleeding, but the first responders were prohibited by law from administering it. Thankfully, his wife met him at the hospital in time and immediately administered it herself “behind closed doors.”  

Recognizing the danger and frustrated by what she learned, Darlene started making calls from her home base in Dexter, Missouri, beginning with some national nonprofits and Emergency Medical Services (EMS) organizations. She repeatedly heard, “that’s just the way it is” and “there’s nothing we can do about it”—which served as the fuel that ignited her passion. Fortunately, certain legislators in Missouri and the MO EMS Association listened and stepped up to help find a solution in their state, resulting in the first EMS Treatment Bill in 2017. 

For the past nine years, Darlene has worked tirelessly with grit, grace, and determination to make in-roads with the medical community, national EMS Associations, and state and federal lawmakers—not just making progress but forging true partnerships. Danny’s Dose focuses not just on changing legislation and EMS protocols around administering patient-carried medications, but also pushes for more specialized education for emergency providers and more education for rare disease families to be prepared for an emergency. 

Although significant progress has been made on many fronts, Darlene continues to push toward the ultimate goal of streamlined national treatment guidelines for all EMS services and comprehensive education for medical providers and families. For the love of her grandchildren and the others she has met and fought for along her advocacy journey, Darlene’s work has made tangible and measurable improvements to the care and safety of countless people living with rare diseases and specialized medical needs.

Look to Abigail Villarreal, a high school senior at Thomas Jefferson High School in San Antonio, Texas, as a shining example of rare disease youth advocacy and leadership.  

What started out as a large-scale personal interest school assignment during her sophomore year, sparked Abby’s passion for advocacy and engaging others to raise awareness and support for those like herself living with a rare disease in her community. 

Diagnosed with phenylketonuria (PKU) as an infant, Abby has lived her whole life with this rare inherited metabolic disorder. She knew her classmates didn’t understand why she had to be so careful about her diet and even experienced bullying at times. She wanted to help spread awareness that struggles like her own are not uncommon; many people, 1 in 10, have a rare disease. 

With this in mind, Abby got to work outlining a school event “Be Rare Spirit Day” to coincide with global Rare Disease Day®. She spent countless hours creating materials, including the zebra ribbons that have become an internationally recognizable symbol for people with rare diseases. Students and teachers were encouraged to wear global Rare Disease Day ® colors of green, pink, purple or blue, and to “Show their Stripes” on social media. “Be Rare Spirit Day” also included a workshop to educate younger students about rare diseases and a luncheon for teachers on how best to support them.  

Abby did not stop there. She also convinced large local organizations such as the Children’s Hospital of San Antonio to “Light Up for Rare,” garnered Rare Disease Day® proclamations from local municipalities and secured local TV news interviews.  

A dancer and former soccer player, Abby also served as the former Miss Reina Latina San Antonio Teen 2021 title holder and used that platform to raise awareness for rare diseases like PKU and teach others about the importance of newborn screening.  

As Abby wrapped up high school and prepared for college, she led her third and final “Be Rare Spirit Day.” Her heart swelled with pride when a younger student offered to carry on the tradition. She even identified a tertiary successor, ensuring her rare disease advocacy and youth movement carries on for years to come. 

Friedreich’s ataxia (FA) is a rare, progressive neurogenetic disease that results in uncoordinated muscle movement, poor balance, difficulty walking, changes in speech and swallowing, and a shortened lifespan. The condition also can cause cardiac disease that may lead to heart failure.  

It typically begins in childhood or during the teen years and progresses over time. Many of those affected ultimately become wheelchair-bound. While rare, FA is the most common of the hereditary ataxias in the United States, affecting an estimated one in 50,000 people.   

In February 2023, FDA approved Skyclarys® as the first treatment to improve neurological function and slow disease progression in people ages 16 or older who have FA. The approval, which was announced on Rare Disease Day 2023, was hailed as a major milestone for the FA community. The Friedreich’s Ataxia Research Alliance played a significant role in the research.  

The development of Skyclarys® was originally sponsored by Reata Pharmaceuticals, and this treatment now is sponsored and brought to the community by Biogen, which acquired Reata and received regulatory approval in September 2023.  

In addition to orphan designation, Skyclarys® also received fast track, priority review and rare pediatric disease designations.  

Biogen also had a second rare disease therapy approved in 2023 – Qalsody® — to treat patients with amyotrophic lateral sclerosis (ALS) associated with a mutation in the superoxide dismutase 1 (SOD1) gene (SOD1-ALS). 

NORD is presenting a 2024 Industry Innovation Award to Biogen in grateful recognition of the company’s commitment to bringing Skyclarys®, this important first treatment, to Friedreich’s ataxia patients and their families. 

In June 2023, FDA approved ROCTAVIAN®, the first gene therapy for adults with severe hemophilia A. This potentially serious bleeding disorder can cause life-threatening health issues as a result of uncontrolled bleeding.  

In announcing the approval, Peter Marks MD, PhD, director of FDA’s Center for Biologics Evaluation and Research, said it “represents an important advance in providing treatment options for patients with this bleeding disorder.” He also said that “treatment with gene therapy may reduce the need for ongoing routine therapy.” 

Hemophilia A occurs due to a gene variant that results in a deficiency of factor VIII, a protein that causes blood to clot. The frequency and severity of bleeding episodes depends upon how much of this protein is produced.  

Severe hemophilia A is characterized by especially low levels of factor VIII (FVIII) and represents about 60% of all cases. It may result in bleeding into vital body organs such as the kidneys or brain and can be life-threatening if not treated. Bleeding episodes over time can also lead to degenerative joint damage.  

ROCTAVIAN® is a one-time gene therapy administered as a single dose by intravenous infusion. It was approved with a companion diagnostic test, AAV5 DetectCDx, to help healthcare providers identify patients who may benefit from it.  

In addition to orphan designation, it was granted breakthrough therapy, priority review and regenerative medicine advanced therapy designations.   

With this 2024 Industry Innovation Award, NORD honors BioMarin for bringing this important treatment option to those living with severe hemophilia A.   

Alpha-mannosidosis is a rare, genetic lysosomal storage disorder. It is caused by genetic changes that result in a lack of the alpha-mannosidase enzyme in the body. This causes the body’s cells to be unable to break down certain groups of complex sugars and can affect many organs and symptoms. Worldwide, about one in 500,000 people are affected.  

This very rare condition represents a spectrum of disease, with mild, moderate and severe subtypes. The symptoms, progression and severity vary widely from one person to another, even between siblings who share the same gene variants.  

Symptoms can include intellectual disability, hearing loss, weakened immune system, distinctive facial features, skeletal abnormalities and muscle weakness, among others. Some individuals develop symptoms shortly after birth that may progress to potentially life-threatening complications in infancy or early childhood. Others develop more moderate symptoms later in childhood, and some may not be diagnosed until adulthood.  

In February 2023, FDA approved Lamzede®, the first enzyme replacement therapy to be approved in the US for the treatment of non-central nervous system manifestations of alpha-mannosidosis in adult and pediatric patients. This treatment is administered as a once-weekly injection. 

It was a significant year for Chiesi Global Rare Diseases as they also received FDA approval for Filsuvez® topical gel for the treatment of partial thickness wounds in patients six months and older with junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB) and Elfabrio® for the treatment of adult patients with Fabry disease. Filsuvez® is the first approved treatment for wounds associated with JEB, a rare, moderate-to-severe form of EB with blisters beginning in infancy.  

NORD is honoring Chiesi Global Rare Diseases with an Industry Innovation Award for developing Lamzede®, an important enzyme replacement therapy for a patient community that had no approved treatment.  

With a prevalence of 1 in a million, and approximately 900 confirmed cases worldwide, fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic condition. It is characterized by the abnormal development of bone in areas within the body where bone is not normally present. 

Specifically, FOP causes the body’s skeletal muscles and soft connective tissues to transform into bone, locking joints in place and making movement difficult or impossible. Episodic flare-ups usually begin during early childhood and progress throughout life. In most cases, FOP occurs as a result of a sporadic genetic change that affects a protein involved in bone formation.  

Over the lifetime of the affected individual, this abnormal bone development may occur spontaneously or after a soft tissue injury or a viral illness. As the disease progresses, those affected experience increasingly limited mobility and increased susceptibility to heart and respiratory issues. Eventually, FOP may result in complete immobilization. 

In August 2023, FDA approved Sohonos™ to reduce the volume of extra-skeletal bone formation in adults and children eight years and older for females and ten years and older for males. This is an oral medication taken once daily. 

In addition to orphan designation, Sohonos™ was granted priority review, fast track and breakthrough therapy designations. The drug sponsor, Ipsen Biopharmaceuticals, also received a rare disease pediatric review voucher. 

In 2023, Ipsen Biopharmaceuticals also received a second rare disease approval for Bylvay® to treat cholestatic pruritus in patients from 12 months of age with Alagille syndrome. 

NORD is honored to present an Industry Innovation Award to Ipsen Biopharmaceuticals for developing Sohonos™, the first therapy for an extremely challenging rare disease.

Activated P13K delta syndrome (APDS) is a rare inherited disorder that affects the way the immune system works. It was first described in 2013 and is one of the primary immunodeficiencies that result in frequent infections that can be difficult to treat.   

The most common symptoms are frequent upper respiratory tract infections, sinus infections, ear infections, bronchitis and pneumonia. Most people with APDS get their first infection in early childhood but symptoms can begin at any age. 

There are two types of APDS representing changes in two different genes. Both have similar symptoms. Some people with APDS have very mild symptoms while others are much more severely affected. Because APDS can look like other immunodeficiencies, genetic testing is necessary to make a specific diagnosis.  

In 2023, FDA approved Joenja® to treat adults and children 12 years and older affected by APDS. This was the first treatment to be approved for this patient community. The drug was first synthesized in 2017 by Novartis. Pharming Healthcare, Inc licensed it in 2019 and continued its development. 

In addition to orphan designation, Joenja® was granted rare pediatric disease and priority review designations. The drug is taken in tablet form, twice a day. 

NORD is presenting this Industry Innovation Award to Pharming Healthcare, Inc to honor the company’s development of this important first treatment for those affected by APDS. 

CHAPLE disease is an extremely rare hereditary disease that can result in potentially life-threatening gastrointestinal and cardiovascular symptoms. There are fewer than 100 patients diagnosed worldwide.  

Also known as CD55-deficient, protein-losing enteropathy, CHAPLE is an inherited immune disease that causes the complement system to become overactive. The complement system defends the body against injury and foreign invaders such as bacteria and viruses. CHAPLE is caused by changes in a gene that regulates the complement system.  

Symptoms can include abdominal pain, nausea, vomiting, diarrhea, loss of appetite, impaired growth and more. In some patients, blockage of blood vessels can occur and can become life-threatening.  

In August 2023, FDA approved Veopoz® as a treatment for adults and children one year of age or older with this condition. It was the first and only treatment indicated specifically for CHAPLE.  

Michael Lenardo MD, of the National Institutes of Health, one of the discoverers of the disease and an investigator in the clinical trial, has said that many of those affected are children who experience debilitating or even life-threatening symptoms as early as infancy. He called the approval of this drug “a milestone to celebrate, providing a new medicine that can help these long-suffering patients.” 

In addition to orphan designation, Veopoz® was awarded fast track and rare pediatric disease designations.  

By “following the science”, Regeneron also had two other rare disease approvals in 2023. These were Eylea® to treat preterm infants with retinopathy of prematurity (ROP) and Evkeeza® to treat persons as young as 5 years with homozygous familial hypercholesterolemia (HoFH). 

In presenting this Industry Innovation Award to Regeneron, NORD is honoring the company’s commitment to bringing much-needed treatments to those with even the rarest of diseases.   

Desmoid tumors are rare tumors that can lead to severe pain and disability. While they are non-cancerous, they can be locally aggressive and may invade nearby tissues and organs resulting in pain, mobility issues and decreased quality of life.  

If they are surgically removed, there is a high risk that they will return or that other health issues will occur. However, for many years there was no treatment option other than surgical removal.  

In November 2023, FDA approved OGSIVEO® tablets for adult patients with progressing desmoid tumors who require systemic treatment. It was the first drug to be approved for this indication. 

This approval capped a 15-year research process in which the patient organization for this community, the Desmoid Tumor Research Foundation (DTRF), the National Cancer Institute, supportive clinicians and researchers, and the drug sponsor, SpringWorks Therapeutics, all played a role. 

Following the approval, Jeanne Whiting, Executive Director Emeritus of DTRF, said “This is an extraordinary victory in the area of rare diseases, and demonstrates the power of collaboration among patients, industry and researchers.” 

In addition to orphan status, OGSIVEO® was granted fast track, priority review and breakthrough therapy designations.  

In recognition of this significant accomplishment, NORD presents an Industry Innovation Award to SpringWorks Therapeutics.  

In February 2023, FDA granted accelerated approval to FILSPARI® to reduce proteinuria in adults with primary IgA nephropathy (IgAN) who are at risk of rapid disease progression. It is the first and only non-immunosuppressive therapy for this rare kidney disease.  

In IgAN, a protein (IgA) meant to defend the body against foreign invaders accumulates in the kidneys and damages them. This impairs their filtering function. As a result, the kidneys begin to let substances such as blood and protein leak into the urine. 

This condition most often occurs in Caucasian and Asian males. It usually occurs when people are in their teens to late 30s but can develop at any age. Some cases resolve over time but, in a sub-set of patients, the condition may not resolve and can lead to end-stage renal disease after 20 to 25 years. In rare cases, the condition can progress much more rapidly leading to renal failure within a few years if not treated.  

FILSPARI® is a first-of-its-kind treatment and a once-daily oral medication. The approval was praised as an important new treatment option for this patient community by leaders of two patient organizations, the IgA Nephropathy Foundation and NephCure.  

NORD is honored to present this Industry Innovation Award to Travere Therapeutics in recognition of the company’s commitment to bringing this important, first-of-a-kind treatment option to patients at risk for rapid progression of a potentially life-threatening disease. 

Sickle cell disease (SCD) is a rare blood disease characterized by the presence of crescent-shaped red blood cells that are sticky and interact with other cells and the blood-clotting system to block the normal flow of nutrients and oxygen in the bloodstream.  

Symptoms include excruciating bone pain, chest pain, severe infections (primarily in children), anemia and jaundice. As people with SCD age, additional complications become more common. These can include pulmonary hypertension, leg sores, eye problems, damage to joints and kidney damage.  

SCD is caused by variants in both copies of the hemoglobin beta (HBB) gene. It affects 0.6 percent of the African American population in the United States (approximately 100,000 cases). It is also common in people of Hispanic descent, from India, Central America and the Arabian Peninsula but can occur in people of any background. SCD affects approximately one in every 300-500 of African American newborns.  

In December 2023, a cell-based gene therapy, CASGEVY®, was approved by FDA to treat patients 12 years of age or older with SCD who have had recurrent vaso-occlusive crises. While this was not the first treatment to be approved for SCD, it was noteworthy because it was the first genome editing therapy to be approved by FDA. CASGEVY® is a one-time treatment that uses the CRISPR Cas-9 technology to edit the patient’s DNA. 

In addition to orphan status, CASGEVY® was awarded priority review, fast track and regenerative medicine advanced therapy designations. The FDA press release announcing the approval said it signaled “an innovative advancement in the field of gene therapy.” 

For its commitment to bringing this innovative new treatment option to a community whose needs for many years were under-served, NORD presents this Industry Innovation Award to Vertex Pharmaceuticals.