FDA Approves A Drug For A Rare Disease That Causes Children To Age Quickly : Shots

Sam Berns and Audrey Gordon, executive director of The Progeria Research Foundation and Berns’s aunt, attend The New York Premiere Of HBO’s “Life According To Sam” on October 8, 2013 in New York City.

Thos Robinson/Getty Images for HBO


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Thos Robinson/Getty Images for HBO

Sam Berns and Audrey Gordon, executive director of The Progeria Research Foundation and Berns’s aunt, attend The New York Premiere Of HBO’s “Life According To Sam” on October 8, 2013 in New York City.

Thos Robinson/Getty Images for HBO

The Food and Drug Administration has approved a drug that extends the lives of children with an extremely rare genetic disorder that causes them to grow old before they grow up.

The disorder, progeria, ages cells rapidly and prematurely. As a result, affected children remain small and begin to look frail and old by the time they reach school age. Most die of heart disease in their early teens.

But the drug, Zokinvy, slows down the decline.

“Zokinvy is a treatment. It’s not a cure,” says Dr. Leslie Gordon, an assistant professor of pediatrics at Brown University and medical director of The Progeria Research Foundation. “But what we can say is that, so far, we know that it increases the average lifespan by about two-and-a-half years.”

Gordon and her family played a crucial role in making Zokinvy possible.

Their goal was to find a treatment for Gordon’s son, Sam Berns, who was diagnosed with progeria in 1998 and died in 2014.

“We started this for Sam, and Sam is always here, always,” Gordon says.

Sam Berns gave a TEDx talk about living with progeria.

YouTube

As a teenager, Sam became the public face of progeria. He spoke to NPR and other media about his condition, was the subject of an HBO documentary, and gave a TEDx talk about how to live a happy life that has been viewed more than 40 million times.

Sam was one of the first children with progeria to receive Zokinvy and Gordon says the drug seemed to extend her son’s life.

“I think Sam felt that way,” she says. “And looking at the data, and as parents, we felt that way too.”

Since Sam’s death, his family has continued to operate The Progeria Research Foundation and to search for a cure.

“We make a really great team,” says Audrey Gordon, who is Sam’s aunt and the foundation’s president. “Leslie [is] in charge of the science aspect, I’m in charge of the fundraising and her husband, Scott, is the chairman of the board.”

The approach reflects a philosophy embraced by Sam, who was a big sports fan, Audrey Gordon says.

“Whenever someone asked, who’s your favorite player on your beloved Patriots or your Boston Bruins, he always refused because he felt like it wasn’t any one person who made the team,” she says “It was the team as a whole.”

Team Sam published the first evidence that Zokinvy worked in 2012. But getting FDA approval required a whole new

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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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Race Against Time for Boy Battling Rare, Alzheimer’s-like Illness | Health News

By Dennis Thompson HealthDay Reporter

(HealthDay)

MONDAY, Nov. 2, 2020 (HealthDay News) — Connor Dobbyn is an energetic and loving 12-year-old, but he’s fading away every second.

Connor has Sanfilippo syndrome, a genetic brain disorder in children that experts compare to Alzheimer’s disease.

The boy already has lost some of what he’s learned in his short time on Earth, and every day he loses a little more.

“We’re on borrowed time. They don’t live through their teens,” said his mom, Marisa DiChiacchio, who lives with Connor in West Chester, Pa. “We have six years left, at most.”

Here’s the good news: Researchers think they’ve found a cure for Connor’s type of Sanfilippo, a therapy that replaces the bad gene in his body with a healthy working version.

But they need millions of dollars in funding to test this potential cure. Connor’s parents have set up a GoFundMe page with a goal of $3 million for a clinical trial that could save their son’s life.

“The research is done. It’s like right there, but they need the money to fund the clinical trial,” DiChiacchio explained.

Kids with Sanfilippo syndrome suffer from the build-up of a long-chain sugar molecule called heparan sulfate, which is normally used by the body to build cartilage, connective tissues, nerve tissues and skin, according to the Nemours Foundation.

These kids have a defect in one of the genes that make enzymes needed to break down heparan sulfate. Without those enzymes, heparan sulfate “builds up everywhere in the body and the brain,” explained Cara O’Neill, chief science officer and co-founder of the Cure Sanfilippo Foundation.

As the substance clogs the brain and body, kids begin experiencing the sort of mental and physical decline associated with dementia in seniors. Kids lose knowledge and skills they’ve gained, develop seizures, experience hearing and vision loss, find it difficult to walk and move, and even struggle to chew and swallow food, O’Neill said.

“These kids become nonverbal. They lose their ability to walk and talk. They’re in wheelchairs and in strollers. Almost all of them develop seizures and different movement disorders,” DiChiacchio said. “There’s literally no cure at this point. These kids are dying.”

Sanfilippo syndrome is relatively rare, occurring in about 1 out of every 70,000 children, O’Neill said.

“We think it’s underdiagnosed because it’s usually masked as autism,” said Glenn O’Neill, president and co-founder of the Cure Sanfilippo Foundation. “Kids exhibit the typical symptoms of autism early in life while parents are trying to figure out what’s going on. But then things actually begin actually going backwards, in the wrong direction.”

That’s what happened with Connor. He’d been struggling with developmental delays since he was 1 year old, and at age 5 he received a diagnosis of autism, DiChiacchio said.

But during a psychological evaluation in the third grade, educators were stunned to find a drastic decline in Connor’s IQ, his mom said.

“It was like a bomb went off,” DiChiacchio said. “His average IQ in kindergarten was 100, and

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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

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Colorado resident, 20, with ‘mild’ coronavirus case later develops rare condition: officials

A 20-year-old Colorado resident who battled the novel coronavirus later developed a rare but serious condition known as multisystem inflammatory syndrome (MIS-C), according to local health officials in the state. 

The resident, of Boulder County, suffered only mild symptoms of COVID-19 and “appeared to have fully recovered,” said county officials in a news release. But three weeks later, the resident fell ill once more — this time with “severe abdominal pain, watery diarrhea, and fever,” all of which are signs of MIS-C. 

Earlier this month, the Centers for Disease Control and Prevention (CDC) identified the condition among adults, drawing on reports of 27 adult patients to describe a new, similar condition known as multisystem inflammatory syndrome in adults (MIS-A). (iStock)

Earlier this month, the Centers for Disease Control and Prevention (CDC) identified the condition among adults, drawing on reports of 27 adult patients to describe a new, similar condition known as multisystem inflammatory syndrome in adults (MIS-A). (iStock)

Since the pandemic began, there have been various reports of multisystem inflammatory syndrome, but most cases have occurred in children, which is known as MIS-C.

The syndrome is an inflammatory condition that is similar to Kawasaki disease, which causes swelling in arteries throughout the body. Many children with MIS-C — which causes inflammation in the heart, lungs, kidneys, brain, skin, eyes, or gastrointestinal organs —  have either been infected with the novel coronavirus or had been exposed to someone with a COVID-19 infection, health officials have sad. MIS-C can also cause persistent fever, rashes, vomiting and diarrhea, among other symptoms such as a red tongue and eyes.

LOUISIANA CHILD’S POSSIBLE CORONAVIRUS-LINKED MIS-C DEATH THE FIRST IN STATE

However, earlier this month, the Centers for Disease Control and Prevention (CDC) identified the condition among adults, drawing on reports of 27 adult patients to describe a new, similar condition known as multisystem inflammatory syndrome in adults (MIS-A).

“Findings indicate that adult patients of all ages with current or previous SARS-CoV-2 infection can develop a hyperinflammatory syndrome resembling MIS-C,” the authors wrote at the time, adding that measures to limit COVID-19 spread may help prevent MIS-A.

SERIOUS CORONAVIRUS-RELATED INFLAMMATORY CONDITION AMONG CHILDREN NOW REPORTED IN ADULTS: CDC

The Colorado patient required hospitalization and intensive care before they improved and were eventually discharged from the hospital. However, “while most young adults experience mild symptoms from COVID-19,” officials warned, “this case is an example of how the disease can progress and how little is known about the long-term impacts of the illness.”

RARE CORONAVIRUS-LINKED SYNDROME AFFECTS 11 CHILDREN IN WASHINGTON STATE: OFFICIALS

“I hope sharing the information about this patient’s experience will help others to better understand how serious COVID-19 can be, even for young people,” said Dr. Heather Pujet, an infectious disease doctor at Boulder Community Health, in a statement. “The patient became extremely ill very quickly with multi-organ system involvement; they fortunately recovered after a period of severe illness. However, this should serve as a warning for the younger people in the community to please not disregard their own personal risks with COVID-19.”

“Much remains unknown about how this condition develops, but it’s related to the body’s attempts to fight an invader,” added Dr. Sam Dominguez, a pediatric infectious disease specialist at Children’s

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