Disease

medicine

‘Heart-breaking’: 30,000 sign petition urging Pharmac to fund inflammatory bowel disease medicine

It is too late for Hayley Greer.

The 24-year-old from Lower Hutt had surgery to remove her colon in January, after medicine for her inflammatory bowel disease stopped working. She will live with an ostomy bag for the rest of her life.

She joined dozens of protestors on a march through Wellington’s streets on Wednesday afternoon to present a 30,000 signature petition to Parliament calling on Pharmac to fund ustekinumab, a medicine used to treat bowel disease.

More than 20,000 New Zealanders live with diseases such as Crohn’s or colitis but if the funded drugs don’t work, or for only a limited time, there are no other options but surgery.

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Hayley Greer, 24, says she may not have needed major surgery if ustekinumab was funded in New Zealand.

ROBERT KITCHIN/Stuff

Hayley Greer, 24, says she may not have needed major surgery if ustekinumab was funded in New Zealand.

“If it was funded it could’ve prevented me having to have my colon out. It could’ve prevented my whole surgery,” Greer said.

“That is really hard to process.”

Ustekinumab is funded in more than 35 countries overseas. Without the expensive treatment, doctors condemn patients to a life of unnecessary pain, Crohn’s and Colitis NZ chair Richard Stein said.

“When people don’t respond to medication we have nothing left except surgery. The disease also comes back,” he said.

Marian O’Connor, co-chair of the Inflammatory Bowel Disease nurses group said nurses found it “frustrating, heartbreaking and soul-destroying” to tell young patients they needed to have major surgery.

People are most commonly diagnosed with Crohn’s or colitis as teens or young adults.

“Sitting with a 17-year-old girl explaining that her bowel is going to be removed and that she will have to live the rest of her life with a stoma bag is heartbreaking,” she said.

Pharmac’s own committee advised that it fund ustekinumab in May. Its chief executive Sarah Fitt told protestors she had regular discussions with suppliers and hoped the medicine would be funded soon. The drugs were on a waiting list.

Chair Steve Maharey said they would “do their best” to get the medicine funded.

Jessica Port, 34, (right) from Porirua was the last person in the country to get ustekinumab on compassionate grounds, and wants others to have the same opportunity.

ROBERT KITCHIN/Stuff

Jessica Port, 34, (right) from Porirua was the last person in the country to get ustekinumab on compassionate grounds, and wants others to have the same opportunity.

“I want to reassure you these issues are in the top of our mind. We would like to solve them and will do our best to solve them,” he said.

“I know these are difficult moments. We would love to give you [a resolution]. We are going to try our best.”

But the words are of little comfort to Greer, who underwent life-altering surgery in January and has been in-and-out of hospital since then.

She was diagnosed in 2014, as a first-year university student. She had two years in remission before the disease came back. Towards the end

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medicine

How has medicine changed in the past 20 years? A look at dementia, cancer care and chronic disease

The 21st century began with the first draft of the human genome, and with it, the promise of immense new powers to treat, prevent and cure disease.

In high-income countries like Australia, rates of heart disease were falling, and life expectancy was rising.

Over the past two decades, lots has changed about the factors that affect our health, wellbeing and how long (and well) we live.

So what do we know now that we didn’t then, and how far have we come?

As part of Radio National’s Big 20 series, Dr Norman Swan speaks to three leaders in their field to find out what’s happened in dementia research, cancer care and chronic disease over the last 20 years.

Chronic disease has been getting worse

Dr Norman Swan talks to Professor Chris Murray, director of the Institute of Health Metrics and Evaluation at the University of Washington.

Dr Swan: Take us back to the year 2000. What was the pattern of disease?

Professor Chris Murray: In the year 2000, right before the big push globally on reducing health problems in low income settings, we were pretty much nearing the peak of the HIV epidemic and, particularly in sub-Saharan Africa, we still had a very large number of deaths under age five — 12 million or so a year.

We hadn’t yet had the big efforts to control malaria. And many middle-income countries were right in that transition from a profile of disease burden dominated by infectious diseases and starting that shift towards cancer, heart disease, chronic kidney disease.

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Hear the full interviews with Dr Norman Swan on the Health Report podcast.

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In the high-income world — Australia, Europe, North America — the [disease burden] looked pretty similar. It was already heavily dominated by heart disease and cancer, chronic kidney disease, but there was less obesity back then, there was less diabetes, and we were still back in the heyday of heart disease coming down pretty rapidly.

Dr Swan: What has happened in the two decades since?

Professor Murray: We’ve seen really dramatic progress bringing down child death rates.

In a place like Niger in West Africa, the improvements are just spectacular. You’ve probably halved child death rates in that period … bringing [it] down below the 5 million mark because of antiretrovirals for HIV.

There has been real progress on controlling malaria because of bed-net programs. So just lots of progress racked up, until COVID, on a number of fronts in the low-income world.

Then at the other end of the spectrum in the high-income world, we’ve seen heart disease progress slow, and in some places reverse.

We’ve seen this steady rise of obesity and bringing with it diabetes, high blood sugar, bringing up blood pressure levels in some countries, despite all the therapies that exist for them.

In the middle-income world we’ve seen progress but we’ve seen the rise of ambient air pollution in the last two decades. It’s becoming a bigger and

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medicine

Precision medicine key to preventing disease developing later in life, Singapore News & Top Stories

SINGAPORE – An individual’s genes can determine the amount of risk he has of developing life-threatening conditions such as heart disease and in turn allows for early intervention.

This is central to the precision medicine programme here, said Professor Tan Chorh Chuan, the chief health scientist from the Ministry of Health and executive director at the Healthcare Transformation Office.

Prof Tan told a webinar on Wednesday (Nov 25) that the programme looks at the genome sequences of participants to help determine the cumulative risks of different diseases based on their genes.

This can be particularly useful for some complaints like premature heart disease, added Prof Tan, who was joined on the webinar panel by Prudential chief executive Dennis Tan and Health Promotion Board (HPB) CEO Zee Yoong Kang.

The event, which covered a broad range of health topics from diabetes and vaccines to strategies on how to stay healthy, is part of The Straits Times Reset 2021 webinar series. It was sponsored by Prudential and moderated by ST senior health correspondent Salma Khalik.

Prof Tan told the webinar that a condition known as familial hypercholesterolemia is caused when a person has a gene that results in high cholesterol levels at a much younger age. If that gene is present, the individual will have up to 20 times higher risk of heart disease – and at an earlier age.

“And then if we identify somebody, we can also test the family. So these preventive strategies will be part of precision health,” he added.

The HPB is working to make use of the clinical, behavioural and digital data as well as genetic data – with patient consent – to identify those at higher risk to allow for early intervention.

Prudential’s Mr Tan said Singaporeans need not be worried about being part of the programme or be concerned if they find out their genome sequences. Having “bad” genes will not make it harder for them to secure insurance policies, he assured.

Privacy is really important, Mr Tan said, adding that “we (Prudential) are very, very careful about such things”.

He said individuals ultimately have to take charge of their own health and should find out more. He said: “Preventive healthcare is all about them being in the driver’s seat, and going through the whole process of early detection, health screening and all.

“So I think as insurers, we will definitely support them.”

Ms Khalik noted that if a person learns that he is at a high risk of getting a certain disease, it will give him the time and opportunity to act before the ailment takes hold.

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health

New vaccine for Alzheimer’s disease shows potential in mice

A preclinical study has tested a new vaccine for Alzheimer’s disease. The researchers found that the vaccine, which targets the beta-amyloid protein, was safe and effective in mice.

Alzheimer’s disease is a progressive neurological condition and the most common cause of dementia.

According to the latest estimates from the Alzheimer’s Association, 1 in 10 people over the age of 65 years in the U.S. have Alzheimer’s disease, and experts expect the number of people with the condition to increase as the population ages. By 2050, projections show that 13.8 million people aged 65 years and over will have Alzheimer’s disease in the U.S.

While groups around the world are working to find an effective treatment for the condition, an alternative approach is to develop a vaccine. Although they are more commonly associated with infectious diseases, vaccines can also prime the body to defend itself against other, noninfectious molecules.

In Alzheimer’s disease, scientists believe that two processes drive the progression of the disease: the buildup of plaques comprising beta-amyloid proteins between neurons in the brain and tangled knots of the tau protein within neurons.

Since the general understanding is that beta-amyloid initiates the disease process, scientists have tried to develop a vaccine against it. The hope is that the immune system recognizes and destroys the beta-amyloid before it can aggravate the cell damage that the tau protein causes.

Although scientists have developed several vaccines, translating the findings from murine models into humans while ensuring safety is notoriously challenging, and the authorities have not yet approved any vaccines for use.

Researchers need to overcome the fact that as people age, their immune system becomes less responsive. As a result, without help, they will have a lower response to a vaccine.

Scientists usually overcome this problem by adding adjuvants that kickstart and enhance the immune response. However, a potential problem is that the adjuvants overstimulate the immune system, leading to inflammation.

A new study that the University of South Florida Health (USF Health) led describes a novel therapeutic vaccine for Alzheimer’s disease, which uses the body’s own immune cells to target beta-amyloid. The study found that this approach avoided the overstimulation of the immune system that can occur due to chemical adjuvants.

The study showed effective antibody production and memory improvements in vaccinated mice, and the findings appear in the Journal of Alzheimer’s Disease.

The new vaccine uses dendritic cells, which communicate with other immune cells, such as B cells and T cells, to guide the immune response.

“This therapeutic vaccine uses the body’s own immune cells to target the toxic [beta-amyloid] molecules that accumulate harmfully in the brain,” explains the senior author of the paper, Dr. Chuanhai Cao.

The dendritic cells are loaded with a modified version of beta-amyloid so that the body can detect and destroy the real thing.

“Because we use dendritic cells to generate antibodies, this vaccine can coordinate both innate and acquired immunity to potentially overcome age-related impairments of the immune system,” adds Dr. Cao.

In the

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health

2-year-old boy with rare disease dresses up as his doctor for Halloween

Dr. William Tse said he was “honored” by the costume.

Many 2-year-old boys want to dress up as Superman or Spiderman for Halloween, but Jonah Bump decided to dress up as a different type of superhero – his doctor.

Jonah was diagnosed with a rare immune deficiency disorder, severe combined immunodeficiency disease, when he was very young. Because of this, Dr. William Tse, the director of pediatric stem cell transplantation at Norton Children’s Cancer Institute in Louisville, Kentucky, performed a stem cell transplant on Jonah when he was just 7 months old.

Because he did not have a functioning immune system, Jonah needed to be isolated in a room at the hospital. His mother, Laurie Bump, says for the most part Tse and hospital staff were the only people they were allowed to see.

“The doctors and nurses became like extended family to us,” Bump said. “Dr. Tse went out of his way to do things for me just out of kindness. Our family has a soft spot for Dr. Tse because of everything he’s done for us and the way he cares about Jonah and our family.”

Dr. Tse says Jonah was one of his very first patients when he started working at the hospital in Louisville two and a half years ago. After Jonah’s surgery, he continues to see the toddler every three to six months to check up on him.

“Every time I see him I’m amazed by well he’s doing,” Tse said. “I feel proud. I feel happy and grateful that together (with his family) we can help Jonah to become a healthy child.”

Bump says she recently bought her son a doctor kit to play with, and when Halloween came around, she thought it’d be the perfect idea to have her son dress up as someone who means so much to their family.

“It seemed like a good fit,” Bump said. “Everyone in our family has been Jonah’s patient and because of what Dr. Tse means to us we decided to combine the two.”

Bump dressed up Jonah exactly like Tse, including a white coat and Tse’s signature blue Oxford shirt he wears underneath the coat. They even replicated Tse’s hospital name tag to say “Tse Jr.”

When the costume was complete, she texted the picture to one of Tse’s transplant nurses and asked her to relay it to him. When Tse saw it, he said he was honored.

“He was like a mini-me,” Tse said. “I was touched. I was so surprised and I didn’t expect it. The costume looked like me down to the very last detail.”

Tse jokes that in 20 years he

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health

Researchers find new deadly inflammatory disease, NIH says

National Institutes of Health (NIH) researchers reported a newly discovered deadly inflammatory disorder last week.

“We had many patients with undiagnosed inflammatory conditions who were coming to the NIH Clinical Center, and we were just unable to diagnose them,” Dr. David Beck, a clinical fellow at NHGRI and lead author of the paper, said in a news release. “That’s when we had the idea of doing it the opposite way. Instead of starting with symptoms, start with a list of genes. Then, study the genomes of undiagnosed individuals and see where it takes us.”

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The team examined over 2,500 people with undiagnosed inflammatory diseases and assessed over 800 genes involved in cells’ regulatory processes, per the release.

In doing this, they found one mutated gene, UB1, causing the syndrome dubbed VEXAS for “vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome.”

Nearly half the patients under study died from the serious condition, researchers said. (iStock)

Nearly half the patients under study died from the serious condition, researchers said. (iStock)

“So far, 40% of VEXAS patients who the team studied have died, revealing the devastating consequences of the severe condition,” per the release. The disease involves blood clotting, repeated fevers, heart issues and problems with blood cells, called myeloid cells.

Findings were published in the New England Journal of Medicine.

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“Our objective was to see if any of the 2,560 patients shared variations in the same gene,” Dr. Daniel Kastner, scientific director of the Intramural Research Program at NHGRI and a senior author of the paper, said in a news release. “Instead of looking at clinical similarities, we were instead taking advantage of shared genomic similarities that could help us discover a completely new disease.”

Of the 2,560 patients, researchers said 1,000 had repeated fevers and widespread inflammation. Three men had the mutated gene in the X chromosome; men have one X chromosome and one Y chromosome, while women have two X chromosomes.

Researchers found “mosaicism” among the affected patients, which happens when some cells carry the gene in its mutated form, and other cells carry the gene in its normal form, per the release. Ultimately, 25 total men across other NIH databases showed to have the mutated gene with similar symptoms: blood clotting, repeated fevers and heart issues, among others.

“By using this genome-first approach, we have managed to find a thread that ties together patients carrying all of these seemingly unrelated, disparate diagnoses,” Kastner concluded.

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health

Rise in nighttime blood pressure increases heart disease risk, study finds

Nov. 2 (UPI) — People who have high blood pressure at night are at increased risk for heart disease, even if their blood pressure is within normal ranges during the day, according to a study published Monday by the journal Circulation.

A nighttime systolic blood pressure — the “top” number — that is 20 millimeters of mercury — or mm. Hg, the unit of measure for blood pressure — above daytime readings raises a person’s risk for heart disease by 18%, the data showed.

That same rise in nighttime blood pressure also increases a person’s risk for heart failure by 25%, the researchers said.

“Nighttime blood pressure is increasingly being recognized as a predictor of cardiovascular risk,” study co-author Dr. Kazuomi Kario said in a statement.

“This study provides much more in-depth information about the cardiovascular risk associated with high nighttime blood pressure,” said Kario, a professor of cardiovascular medicine at Jichi Medical University in Japan.

Nearly half of all adults in the United States — or 108 million people — have high blood pressure, the Centers for Disease Control and Prevention estimates.

Research suggests that up to 40% of people experience rises in systolic blood pressure at night, whether or not their blood pressure is considered normal or healthy — between 90 mm. Hg and 120 mm. Hg — during the day.

For this study, researchers measured daytime and nighttime systolic blood pressure in 6,359 adults from across Japan between 2009 and 2017, using an at-home, wearable, ambulatory monitor.

Blood pressure was recorded during daily activities and sleep for at least 24-hours at a time, and device data were periodically downloaded at a healthcare clinic, the researchers said.

Nearly half of the study participants were male, and more than half were aged 65 years and older, according to the researchers.

All of the study participants had at least one risk factor for heart disease — although none had been diagnosed with it — and 75% of them were taking blood pressure medications when the study began, the researchers said.

The study participants were instructed to rest or sleep during nighttime hours and maintain their usual daytime activities, and they recorded their daily activities and sleep and wake times in a diary.

Nearly every participant recorded 20 daytime and seven nighttime automated blood pressure measurements.

By the end of the study period, participants experienced a total of 306 cardiovascular events, including 119 strokes, 99 diagnoses of coronary artery disease and 88 diagnoses of heart failure.

Those with a disrupted circadian blood pressure rhythm — or higher blood pressure at night than during the day — had a 48% higher risk for heart disease and were nearly three times as likely to experience heart failure, the data showed.

Circadian rhythms are the body’s natural, internal process that regulates a person’s sleep-wake cycle and repeats with each rotation of the Earth, or roughly every 24 hours, according to the American Heart Association.

Blood pressure typically fluctuates with a pattern that follows the

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health

Veteran does 176,200 push-ups during blood cancer fight to honor others with disease

One veteran is truly showing what it means to be “Army Strong.”



Former Army Sgt. Nathan Tirey on the last day of his personal push-up challenge.


© Courtesy of Nathan Tirey
Former Army Sgt. Nathan Tirey on the last day of his personal push-up challenge.

When former Army Sgt. Nathan Tirey found out that he had blood cancer in 2019, he was determined to fight the illness alongside his fellow Americans battling the same disease.

Tirey decided to complete one push-up for each American diagnosed with blood cancer annually. This October, Tirey completed his 176,200th push-up.



a person standing posing for the camera: Former Army Sgt. Nathan Tirey was diagnosed with blood cancer in 2019 and decided to complete 176,200 push-ups while going through treatment.


© ABC News
Former Army Sgt. Nathan Tirey was diagnosed with blood cancer in 2019 and decided to complete 176,200 push-ups while going through treatment.

Tirey documented the personal challenge on his YouTube channel, Pushing Through Cancer, which he used to raise awareness about his mission and those affected by blood cancer.

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Even on the days he received treatment, Tirey would average around 484 push-ups a day.

“I’m in treatment right now, so I’m doing it while I’m getting treated,” Tirey shared on YouTube.

Tiery’s children, Nathan Tirey Jr. and Victoria Tirey, joined him on his last day of push-ups nearly a year after he was diagnosed.

After the final push, his wife, Megan Tirey, gave him a kiss. Nathan Tirey was overcome with gratitude for all of the support.



Former Army Sgt. Nathan Tirey on the last day of his personal push-up challenge.


© Courtesy of Nathan Tirey
Former Army Sgt. Nathan Tirey on the last day of his personal push-up challenge.

“Dealing with the treatment and everything this year… This helped me [with] mentallybeing able to withstand that,” Tirey said in a YouTube video.

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Tirey told “World News Tonight” on Wednesday that fighting through hard times is what brings Americans together.

“It’s always a grind to go through hard times and I want America to remember that we all have hard times. That’s something that bonds us together,” Tirey said. “We all go through hardships and hard times, but we can get through it if we just push through and put one foot in front of the other.”

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health

A Canadian research team conducts first global study of COVID-19 and Celiac disease

Canadian Celiac Association partners with McMaster University

TORONTO, Oct. 29, 2020 (GLOBE NEWSWIRE) — At the advent of the COVID-19 pandemic, a team of researchers from McMaster University—in partnership with the Canadian Celiac Association (CCA)—sought to determine if people with celiac disease were at an increased risk of contracting COVID-19. This is the first large-scale global study of its kind and was led by Dr. Maria Pinto Sanchez at McMaster University.

“Early in the pandemic, every patient in our clinic was asking if their risk of contracting COVID-19 was increased due to their celiac disease. Initially, with the help of student Jamie Zhen, we developed a survey intended to be used just in our clinic, but we saw the potential to bring/take it to a wider audience when my international colleagues expressed interest. After getting the approval of the McMaster ethics board, we brought it to the CCA to help us get the word out to celiacs across Canada,” says Dr. Pinto Sanchez.

While the research started in Canada, it quickly expanded to include 18,000 self-reported celiac disease sufferers from across the globe. The survey, which was live from March to June 2020, was conducted with participation from 10 countries (Canada, Argentina, US, Mexico, Argentina, Uruguay, Italy, Spain, New Zealand and Australia) and was also translated into Spanish and Italian.

“Despite numerous previous studies that have suggested celiac disease is associated with an increased risk of respiratory infections, the research revealed patients with celiac disease were no more at risk of contracting COVID-19 than non-celiacs,” says Dr. Pinto Sanchez. “What this means is celiacs need only take the same precautions as the general public: wearing of masks in public, physical distancing of at least 2 metres and adopt a thorough hand-washing protocol.”

The results have been published in the journal of Clinical Gastroenterology and Hepatology.

For more details or an interview with the CCA or Dr. Pinto Sanchez, please contact Melissa Secord.

About the Canadian Celiac Association

The Canadian Celiac Association / L’Association canadienne de la maladie coeliaque, a volunteer-based federally registered charitable organization, empowers people who are adversely affected by gluten. It was founded in 1972 and continues to be a source of science-based information, fostering research and encouraging mutual support among the gluten-free community. The association serves people with celiac disease, dermatitis herpetiformis and gluten disorders through its affiliated chapters across Canada.

Media Contact: Melissa Secord, Executive Director

E: [email protected]

M: 905-507-6208 ext. 226

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health

Taysha Gene Therapies Receives Rare Pediatric Disease Designation and Orphan Drug Designation for TSHA-104 to Treat SURF1-Associated Leigh Syndrome

Taysha anticipated to submit Investigational New Drug Application for TSHA-104 to FDA in 2021

Rare pediatric disease and orphan drug designations now obtained in multiple pipeline programs, including TSHA-101 for GM2 gangliosidosis, TSHA-102 for Rett syndrome and TSHA-118 for CLN1

Taysha Gene Therapies Inc. (Nasdaq: TSHA), a patient-centric gene therapy company focused on developing and commercializing AAV-based gene therapies for the treatment of monogenic diseases of the central nervous system in both rare and large patient populations, today announced that it has received rare pediatric disease designation and orphan drug designation from the U.S. Food and Drug Administration (FDA) for TSHA-104, an AAV9-based gene therapy in development for SURF1-associated Leigh syndrome. Taysha anticipates it will submit an Investigational New Drug (IND) application to the FDA for TSHA-104 in 2021.

“We have now obtained rare pediatric disease and orphan drug designations in multiple gene therapy programs, which we believe will allow us to work more effectively with the FDA as we advance our broad portfolio,” said RA Session II, President, CEO and Founder of Taysha. “The receipt of these designations highlights the dedication that our team has to advancing our gene therapy pipeline as efficiently and rapidly as possible.”

Leigh syndrome is a severe neurological disorder that usually presents in the first year of life. It is characterized by progressive loss of mental and movement abilities that can result in death within two to three years. Approximately 10-15% of people with Leigh syndrome have a SURF1 mutation.

“Being diagnosed with a mutation in the SURF1 gene is a truly devastating event for families,” said Kasey Woleben, Founder of Cure SURF1 Foundation. “Taysha’s commitment to developing a gene therapy for SURF1 deficiency is greatly welcomed by the patient community and has the potential to save the lives of children afflicted with this progressive disorder.”

Taysha has secured rare pediatric disease designation and orphan drug designation for multiple of its programs, including GM2 gangliosidosis, CLN1, Rett syndrome and now SURF1. In addition to these designations, the company also has fast track status for the CLN1 program.

“SURF1 deficiency is a monogenic mitochondrial disorder and is the most common cause of cytochrome c oxidase deficient Leigh syndrome,” said Steven Gray, Ph.D., Chief Scientific Advisor of Taysha and Associate Professor in the Department of Pediatrics at UT Southwestern. “Obtaining these key designations highlights our commitment to developing a gene therapy for the treatment of SURF1 deficiency.”

The FDA defines a rare pediatric disease as a serious or life-threatening disease in which the disease manifestations primarily affect individuals aged from birth to 18 years. Pediatric diseases recognized as “rare” affect under 200,000 people in the U.S. The Rare Pediatric Disease Priority Review Voucher Program is intended to address the challenges that drug companies face when developing treatments for these unique patient populations. Under this program, companies are eligible to receive a priority review voucher following approval of a product with rare pediatric disease designation if the marketing application submitted for the product satisfies certain conditions, including

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