Author: admin

2025-02-25T07:01:00

(BPT) – A rare disease is a disease, disorder, illness or condition that affects fewer than 200,000 Americans.¹ Since rare diseases impact a small number of people, they often remain relatively unknown among the broader population.

In honor of Rare Disease Day, on February 28, 2025, Biohaven, a biopharmaceutical company focused on treatments for diseases with significant unmet needs, is bringing attention to spinocerebellar ataxia (SCA), a rare, progressively debilitating neurodegenerative disease that affects approximately 15,000 people in the U.S. and 24,000 in Europe and the United Kingdom.²

NORD^®, the National Organization for Rare Disorders and official partner for Rare Disease Day in the U.S., is calling on the nation to “Show Your Stripes^®” to shed light on rare diseases and generate support for all people on a rare medical journey. Amy M., who has lived with SCA for the last eight years, is showing her stripes by sharing her story about living with a rare disease that has no cure or FDA-approved treatment options. According to Amy, living with SCA is like “living in a physical prison that deteriorates your ability to have others understand you.”

Amy, an accomplished lawyer, lived her life unaware of having the disease until she began noticing changes in her body that couldn’t be explained. She started losing her balance, falling a lot and struggled with everyday things like wearing high-heeled shoes and going up and down stairs. “It is jarring, to find what were once seemingly mundane experiences, like climbing stairs or putting shoes on, become some of my greatest physical hardships,” said Amy. “And while the physical challenges that come with SCA are numerous, for me, the mental burden of this disease is what I have the most difficulty coming to terms with. I don’t want to accept the fact I could soon be in a wheelchair, without the ability to write or speak clearly, my independence stolen by SCA. But because there are no treatment options available for me, my only choice is to come to terms with my disease.”

SCA is a devastating disease that impacts all aspects of a person’s life as well as their family. People with SCA experience significant morbidity, including progression to a wheelchair, impaired gait leading to falls, inability to communicate due to speech impairment, difficulty swallowing, and premature death. While signs and symptoms can appear anytime from childhood to late adulthood, SCA typically presents in early adulthood and progresses over a number of years.

SCA is just one of the 10,000 rare diseases that have minimal or no treatment options.¹ With 25-30 million Americans living with rare diseases,¹ it’s crucial to continue to invest in research that offers hope to people living with diseases with significant unmet need. Biohaven currently has a New Drug Application under review with the FDA for a new treatment candidate for SCA.

Join Amy this Rare Disease Day by visiting NORD^® and “showing your stripes” to show support for those living with rare diseases. To learn more about SCA and how Biohaven is reinforcing their commitment to help people like Amy through innovative research, visit Biohaven.com.

References

1. NORD^® Rare Disease Database. National Organization for Rare Disorders. Available at https://rarediseases.org/rare-diseases/. Accessed on February 4, 2025.
2. Biohaven Reports Positive Phase 1 Degrader Data, Achieving Deep Targeted IgG Reductions in the Lowest Subcutaneous Dose Tested; Announces NDA Submission for Troriluzole in SCA and Provides Other Key Program Updates. December 16, 2024.

2025-02-24T08:01:00

(BPT) – Each year on the last day of February, people living with rare diseases—along with caregivers, healthcare professionals, advocacy groups, and others—come together to drive meaningful change and push for equitable care on Rare Disease Day.

With nearly 300 million people worldwide affected by rare diseases, this global movement amplifies the voices of those living with diseases that often go unrecognized. The European Organization for Rare Diseases (EURORDIS) founded Rare Disease Day in 2008, choosing February 29—a rare calendar date—to symbolize the nature of these diseases. Since then, EURORDIS, in collaboration with over 65 global organizations, has worked tirelessly to raise awareness, foster community, and advocate for better resources.

For the estimated 77,000 to 115,000 people in the U.S. living with hypoparathyroidism (hypopara), Rare Disease Day is an opportunity to shine a light on this often-misunderstood disease and the need for improved awareness, diagnosis, and treatment—including an available FDA-approved treatment option that directly addresses the disease’s root cause.

What is Hypopara?

Hypopara is a rare endocrine disease caused by insufficient levels of parathyroid hormone (PTH)—a key hormone that regulates calcium and phosphate levels in the bone, kidney, and intestine. Without enough PTH, the body struggles to maintain normal calcium balance, leading to symptoms like muscle cramps, tingling, brain fog, fatigue, and even seizures.

Approximately 75% of chronic hypopara cases occur due to accidental damage to or removal of the parathyroid glands during neck surgery, such as a thyroidectomy, while other causes stem from genetic and/or autoimmune conditions, or secondary or unknown causes.

Despite knowledge of what causes hypopara, it remains both underdiagnosed and undertreated, largely due to a lack of awareness among healthcare providers—and, until recently, lack of reliably available PTH-based therapies.

Challenges of Diagnosis and Treatment

Diagnosing hypopara can be challenging because its symptoms often overlap with other common medical conditions. For example, postsurgical patients may not show symptoms immediately, and the disease may only be detected during routine checkups or when healthcare providers investigate concerns like fatigue or muscle aches. Since these symptoms are nonspecific, hypopara can often be overlooked.

Historically, treatment options have been limited. For years, patients have been prescribed conventional therapy, which consists of active vitamin D and calcium, to manage some symptoms. However, conventional therapy does not address the missing PTH and may result in a high pill burden for patients.

FDA-Approved Treatment

YORVIPATH^® is the first and only FDA-approved treatment for hypopara in adults in the U.S. YORVIPATH is a prescription medicine used to treat adults with low parathyroid hormone (PTH). This ready-to-use, once-daily injection provides continuous exposure to active PTH throughout the 24-hour dosing period.

The safety and effectiveness of YORVIPATH have not been established in individuals recently diagnosed with hypoparathyroidism following surgery or those with low calcium levels at the start of treatment. Additionally, its use is not recommended in children or young adults with developing bones. YORVIPATH may lead to high or low calcium levels in the blood or possible bone cancer. For more detailed safety information, please refer to the end of this article.

Unlike conventional therapy that relies on high doses of calcium and active vitamin D, YORVIPATH directly addresses the root cause of the disease. The goal of treatment with YORVIPATH is to maintain serum calcium levels in the normal range without the need for active vitamin D or therapeutic calcium doses. However, patients can continue taking calcium supplements as needed to meet their daily dietary requirements.

Community and Advocacy

To assist patients in starting and continuing treatment, the Ascendis Signature Access Program^® (A•S•A•P) offers patient support with treatment initiation, insurance issues, and ongoing adherence. This program provides services to eligible patients prescribed YORVIPATH for its approved indication.

For those living with hypopara, connecting with advocacy organizations and patient support groups can offer community as well as essential resources and education. Organizations like the HypoPARAthyroidism Association help build this community and are dedicated to empowering patients through education, advocacy, and support.

This Rare Disease Day, raising awareness about hypopara is crucial to improving early diagnosis, expanding treatment awareness, and enhancing support for those affected. By fostering greater understanding and advocacy, we can drive meaningful change and improve lives.

IMPORTANT SAFETY INFORMATION AND USE

What is the most important information I should know about YORVIPATH^®?

YORVIPATH may cause serious side effects, including:

• High levels of calcium in the blood (hypercalcemia). YORVIPATH can cause some people to have higher blood calcium levels than normal. Your healthcare provider should check your blood calcium before you start and during your treatment with YORVIPATH. Tell your healthcare provider right away if you have nausea, vomiting, dizziness, feeling thirsty, confusion, muscle weakness, or irregular heartbeat. Hypercalcemia is more likely to occur within the first 3 months of starting YORVIPATH, but it may occur at any time.

• Low levels of calcium in the blood (hypocalcemia). People who stop using, miss, or change a dose of YORVIPATH may have an increased risk of low blood calcium levels, but hypocalcemia may occur at any time. Tell your healthcare provider right away if you have tingling in your fingertips, toes, lips or tongue, muscle spasms or cramps, oral numbness, depression, have problems thinking or remembering, abnormal heart rhythms, or seizures.

• Possible bone cancer (osteosarcoma). Tell your healthcare provider right away if you have pain in any areas of your body that does not go away or any new or unusual lumps or swelling under your skin that is tender to touch. These are some of the signs and symptoms of osteosarcoma and your healthcare provider may need to do further tests.

Who should not take YORVIPATH?

Do not use YORVIPATH if you are allergic to palopegteriparatide or any of the other ingredients in YORVIPATH.

What should I tell my healthcare provider before taking YORVIPATH?

Before using YORVIPATH, tell your healthcare provider about all of your medical conditions, including if you:

• are at higher risk of a type of bone cancer called osteosarcoma. This is especially important:
  • if you have a bone disease that increases your risk of developing osteosarcoma (including if you have Paget’s disease).
  • if a blood test shows that you have unexplained increases in bone alkaline phosphatase.
  • if you have cancer of the bones or other cancer that has spread to your bones.
  • if you are having or have had radiation therapy to the skeleton.
  • if you are affected with a condition that runs in your family that can increase your chance of getting cancer in your bones.

• take medicines that contain digoxin, are used to treat osteoporosis, or can affect calcium levels in your blood.

• are pregnant or plan to become pregnant. It is not known if YORVIPATH will harm your unborn baby. Tell your healthcare provider if you become pregnant during treatment with YORVIPATH.

• are breastfeeding or plan to breastfeed. It is not known if YORVIPATH passes into your breast milk. Talk to your healthcare provider about the best way to feed your baby during treatment with YORVIPATH.

Tell your healthcare provider about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements. YORVIPATH and other medicines may affect each other causing side effects.

What are the possible side effects of YORVIPATH?

YORVIPATH may cause serious side effects:

• Allergic (hypersensitivity) reaction, including anaphylaxis. Stop taking YORVIPATH and tell your healthcare provider or get emergency medical help right away if you have swelling of your face, lips, mouth, or tongue, breathing problems, fainting, dizziness, feeling lightheaded (low blood pressure), fast heartbeat, itching, rash, or hives.

• Decrease in blood pressure when you change positions (orthostatic hypotension). Some people may feel dizzy, get a fast heartbeat, or feel light-headed right after injecting YORVIPATH. For the first few doses, give your injection of YORVIPATH in a place where you can sit or lie down right away if you get these symptoms. If your symptoms get worse or do not go away, contact your healthcare provider before you continue using YORVIPATH.

• Digoxin toxicity if you are using digoxin and YORVIPATH at the same time. Tell your healthcare provider if you experience irregular heart rhythm, heart palpitations, confusion, loss of appetite, nausea, vomiting, diarrhea, or vision problems.

The most common side effects of YORVIPATH include injection site reactions, vasodilatory signs or symptoms such as a drop in blood pressure or lightheadedness when standing up, headache, diarrhea, back pain, high calcium levels, and sore throat.

These are not all of the possible side effects of YORVIPATH. Call your doctor for medical advice about side effects. You are encouraged to report side effects to FDA?www.fda.gov/medwatch. You may also report side effects to Ascendis Pharma at 1-844-442-7236.

What is YORVIPATH used for?

YORVIPATH is a prescription medicine used to treat adults with low parathyroid hormone (PTH) (hypoparathyroidism).

• It is not known if YORVIPATH is safe and effective in people who have been recently diagnosed with hypoparathyroidism after surgery, or if it is started in people with low levels of calcium in the blood.

• It is not known if YORVIPATH is safe and effective in children.

• YORVIPATH should not be used in children and young adults whose bones are still growing.

Please click here for full Prescribing Information for YORVIPATH and Medication Guide.

For more information about YORVIPATH, please visit www.yorvipath.com or call +1 844-442-7236.

2025-02-21T08:31:00

(BPT) – Imagine you haven’t slept in 72 hours and every step you take feels like you’re walking through wet cement. Then imagine you experience this feeling every day. This is how excessive daytime sleepiness can feel for people living with narcolepsy, a rare neurological disorder that can affect all aspects of a person’s daily life. Approximately 170,000 people in the United States are thought to be living with narcolepsy.

All people living with narcolepsy experience excessive daytime sleepiness, which means they struggle to stay awake and alert during the day, or they constantly feel sleepy. This can impact their daily lives at work or at home in many ways. They may have trouble staying awake while being sedentary or inactive, such as during meetings or while reading. Some may also experience difficulty with memory, concentration, and attention due to excessive daytime sleepiness. Their sleepiness may affect interactions and relationships with family and friends. Excessive daytime sleepiness can be mistaken for symptoms of other disorders, making a narcolepsy diagnosis challenging.

Many people living with narcolepsy struggle with symptoms for years before getting the right diagnosis, often taking 8 to 15 years. For Lindsay and Matt, it was no different.

The road to a diagnosis

Lindsay was just 16 years old when she began experiencing excessive daytime sleepiness. “When I go back through my memory, some days are perfectly clear. Then there are other days, months, seasons, and even years that feel like looking through a diary with blank pages. That reflects how sleepy I was at that time,” Lindsay described. “I was going through life feeling like I was moving underneath a weighted blanket.”

For nearly two decades, Lindsay pursued an explanation for her excessive daytime sleepiness with different healthcare providers, but to no avail. It wasn’t until she was 35 years old that she found a sleep specialist and was ultimately diagnosed with narcolepsy.

Matt’s excessive daytime sleepiness became very disruptive when he was 12 years old, long before his diagnosis of narcolepsy. He tried to sneak in what he called “mini-sleeps,” or 15-minute naps, whenever possible to make it through the different activities in his day, often taking two such naps between waking up in the morning and arriving at school. “I would find myself waking up, taking a shower, eating breakfast, taking a nap on the couch. Going to school, while my mom drove, I would be taking a nap,” Matt recalled. His sleepiness led to feelings of depression, which impacted his life and may have delayed his eventual diagnosis of narcolepsy.

By the time he was in his mid-twenties, Matt had seen various healthcare providers but still had no answers. Then he found a sleep specialist. “I went into his office, and he gave me a very exhaustive questionnaire. It asked questions about clumsiness and about slumping over — things that I thought were actually normal,” he said. After hearing Matt’s history, how he was feeling, and evaluating his sleep study results, the sleep specialist diagnosed Matt with narcolepsy with cataplexy. Cataplexy is the sudden and brief loss of muscle strength often brought on by strong emotions or certain situations.

“When assessing someone for narcolepsy, healthcare providers often use questionnaires such as the Epworth Sleepiness Scale (commonly called ESS) along with a diagnostic test such as the MSLT (Multiple Sleep Latency Test) to aid in their diagnosis,” explained, Dr. Alcibiades Rodriguez, MD, a board-certified neurologist and sleep specialist at New York University Langone Medical Center. “While sleep tests are an important part of confirming a diagnosis, it is important for me to ask how sleepiness impacts someone’s daily life. Questions like, what are some things you would like to be doing that you can’t do because of your excessive daytime sleepiness?”

The impact of a narcolepsy diagnosis

Receiving an official diagnosis can bring a sense of relief since it provides validation and an official name for what people are experiencing, but it’s just the first step to living with narcolepsy. Narcolepsy is a lifelong disorder and is often portrayed inaccurately in the media. This can add to the burden and stigma people living with narcolepsy often feel because others often aren’t familiar with the disorder or only know what they’ve seen portrayed in the media.

Matt found comfort in his diagnosis and was open about his disorder with others, but he struggled to find information about what he was experiencing. When he was diagnosed in 2007 at age 25, there wasn’t a lot of support and resources available, so he did his own research through university websites and textbooks. Matt had trouble understanding his diagnosis because the excessive daytime sleepiness and cataplexy he’d experienced differed from the way narcolepsy was shown in the media. “I was trying to project my own experiences onto what I was seeing, and that wasn’t what the reality was,” he shared.

For Lindsay, receiving a narcolepsy diagnosis made her feel grief for who she once was. “When I first got diagnosed, I really did not want anybody to know,” Lindsay recounted. “I did not talk about it, which is very counter to who I am. The idea of people knowing that I had narcolepsy felt really scary to me.”

The importance of sharing lived experiences and community support

Connecting with the narcolepsy community helped give Lindsay a new perspective on living with her disorder. “Getting involved was an opportunity to not just be surrounded by other people living with narcolepsy, but to be surrounded by people with narcolepsy who were using their voices to make positive change,” Lindsay said. Now, Lindsay regularly writes and speaks publicly about her diagnosis and sleep health to help others on their journey.

Matt also found inspiration within the community. Recalling the lack of resources available to him after diagnosis, he wanted to share his story, his lived experience to help raise awareness for others. On social media and other online platforms, he was able to support others in the narcolepsy community and feel more supported himself.

“Getting the right diagnosis is just the first step in a person living with narcolepsy’s journey. Even though life after diagnosis can be challenging, the right resources, support system, and the narcolepsy community are there to help,” shared Dr. Rodriguez. “Organizations like Narcolepsy Network, Project Sleep, and Wake Up Narcolepsy host events, offer programs and have different ways for people living with narcolepsy to connect with each other, share experiences, and help to drive broader awareness,” he said. “Access to resources can help people with narcolepsy stay informed and feel supported in their journey.”

In addition to these organizations, Know Narcolepsy is another resource. Visit KnowNarcolepsy.com to learn more.

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US-NAR-2400154/Feb 2025