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Category Archives: Genetic Therapy

‘I decided to fight like a mother’: How one parent is battling to cure a disease so rare it has no name – CNBC

The only thing Amber Freed ever wanted was to be a mom.

Like a lot of people, she and her husband Mark had a hard time conceiving. But after two years of IVF treatments, the Denver couple got a double dose of good news: Amber was pregnant with twins.

Maxwell and Riley were born on March 27, 2017.

"They instantly changed my life and made me so happy," Amber said.

But while the twins came into the world together, they didn't develop at the same pace as they grew. When they were about four months old, Amber and Mark noticed the difference: Maxwell wasn't reaching for toys or his bottle like his sister did he didn't use his hands at all.

After six months of genetic testing, Maxwell was diagnosed with a disease so rare it doesn't even have a name. Instead, it's known by its genetic location: SLC6A1. At the time of Maxwell's diagnosis, there were only 50 known cases in the world.

"I just remember thinking that that wasn't the name of a disease. It was the name of a flight number," said Amber. "I could not understand what my perfect, beautiful little baby boy had, and neither could the doctors."

What they did know was that Maxwell's rare neurological condition would likely cause severe movement and speech disorders and intellectual disability. Between the ages of three and four, Maxwell is expected to develop a debilitating form of epilepsy and start to regress.

Mark and Amber Freed with their twins Riley and Maxwell

Amber Freed

Amber refused to just sit back and watch that happen. She quit her job as a financial analyst at Janus Henderson the day Maxwell was diagnosed, and dedicated herself to finding a cure.

"It was in that moment that there was no future for my most prized possession in the world, that I was not going to accept that answer for little Maxwell," she said. "And I decided to fight like a mother."

She asked the doctors what they would do if Maxwell were their child. They told her to "call scientists."

Working 80 hours a day, Amber became an expert in the biology of the disease and reached out to 140 scientists over the next three months. She founded a non-profit and in 10 months, between that and a GoFundMe campaign, has raised $1 million to fund the initial research into a cure.

Amber was told gene replacement therapy was Maxwell's best hope.

The Food and Drug Administration has already approved gene therapy for some other diseases, including a rare form of vision loss and for some leukemia patients. It involves introducing a new gene through a virus that doesn't make the patient sick. It targets the defective gene, replacing it with a good copy, altering the patient's DNA and - it's hoped- dramatically improving the disease with a single treatment.

At some point, Amber decided Dr. Steven Gray at the University of Texas Southwestern Medical Center in Dallas was the best person to help her son. But Gray was busy and hard to pin down. So Amber showed up at a conference where she knew he'd be speaking, and sat down next to him. After a four-hour dinner that night, they had a game plan.

Gray's team has advanced their research on SLC6A1 to the point where they're ready to start clinical trials.

But a phase one trial requires money. A lot of money. Amber needs another $3 million to-$6 million. And connections in the drug industry.

So she's joining the thousands of health industry investors and executives flying to San Francisco for the JPMorgan Healthcare Conference. You'll never find a place with a denser concentration of the people who fund drug development. She's hoping for donations or maybe to find a biotech company that would want to invest as a business opportunity.

But the Freed family is racing against the clock. Amber and Mark's little boy, who they call "Mr. Snuggles" because he loves hugging his sister and giving open mouth kisses, could start having debilitating seizures within the next year.

And even if she can get a clinical trial started, there's never a guarantee any patient, including Maxwell, will be admitted.

"The University of Texas Southwestern was very straightforward upfront that you may not be doing this for Maxwell," Amber explained. "There's a chance this may not be done in time for him, that you're doing it for every child that comes after him. And I lived with that fear and uncertainty for a very long time. And I understand and the way I make peace with it is thinking that there's no greater legacy in the world and doing the best you can to really impact a multitude of little lives."

She says her dream is that SLC6A1 will someday be part of a newborn screening panel, and that babies with the defect will be able to be treated and cured before they ever leave the hospital.

"They will never become symptomatic of this disease," she hopes. "There will never be another Maxwell Freed."

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'I decided to fight like a mother': How one parent is battling to cure a disease so rare it has no name - CNBC

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Generation Bio Announces $110 Million Series C Financing to Advance Lead Programs for Hemophilia A and PKU | DNA RNA and Cells | News Channels -…

DetailsCategory: DNA RNA and CellsPublished on Sunday, 12 January 2020 11:43Hits: 328

Proceeds will advance IND-enabling studies for the lead programs and application of the companys breakthrough non-viral platform to additional liver indications and new tissues

CAMBRIDGE, MA, USA I January 10, 2020 I Generation Bio, a company leading a new generation of gene therapy, announced the closing of a $110 million Series C financing. Proceeds will be used to advance the companys two lead liver-targeted programs for hemophilia A and phenylketonuria (PKU) into IND-enabling studies and clinical development.

The financing was led by T. Rowe Price funds and accounts, with participation from Farallon, Wellington Management Company and existing investors Atlas Venture, Fidelity, Invus, Casdin, Deerfield, Foresite Capital and an entity associated with SVB Leerink. Cowen served as exclusive placement agent for the offering.

Generation Bios non-viral platform moves beyond the limitations of existing gene therapy by enabling re-dosable long-lasting gene therapies for severe diseases on a global scale. The platform combines three unique technologies: a novel cell-targeted lipid nanoparticle delivery system (ctLNP), a proprietary closed-ended DNA construct (ceDNA) and a high-capacity capsid-free biologics manufacturing process. In addition to the liver, Generation Bio is developing gene therapies for patients with skeletal muscle and eye diseases.

Our vision is to develop re-dosable long-lasting gene therapies manufactured at a scale that leaves no patient or family behind, said Geoff McDonough, M.D., president and chief executive officer of Generation Bio. Since our founding, we have had the support of high-quality investors who share our excitement about our potential to lead a new generation of gene therapy as we advance our lead programs toward the clinic.

Generation Bios non-viral platform is designed to extend the reach of gene therapy through its potential to enable:

About Generation Bio

Generation Bio is a biotechnology company leading a new generation of re-dosable long-lasting gene therapy on a scale to potentially benefit more families living with a broader range of diseases around the world. The companys powerful non-viral platform combines three unique technologies: a novel cell-targeted lipid nanoparticle delivery system (ctLNP), a proprietary closed-ended DNA construct (ceDNA) and a high-capacity capsid-free biologics manufacturing process. In addition to its lead liver-targeted programs in hemophilia A and phenylketonuria (PKU), Generation Bio is developing gene therapies for patients with diseases of skeletal muscle and the eye. Generation Bio was founded by Atlas Venture and is headquartered in Cambridge, Mass.

For more information, please visit or follow us at @generationbio.

SOURCE: Generation Bio

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Generation Bio Announces $110 Million Series C Financing to Advance Lead Programs for Hemophilia A and PKU | DNA RNA and Cells | News Channels -...

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Hemophilia Cure: New Gene Therapy Offers Hope to Patients – Gilmore Health News

British researchers have just developed a revolutionary gene therapy for people with hemophilia A. According to their initial tests, it has been successfully tested on 13 men suffering from this genetic disorder.

Blood Bag

Hemophilia, which affects about 20000 people in the US and 700,000 worldwide, is a rare disease that prevents blood from clotting, which carries a risk of bleeding. Carried in the X chromosome and mainly affecting men, it can be particularly painful and can even cause death if the bleeding is not treated in time.

Read Also: Doctors Investigate CRISPR Gene-Editing for Treatment of Sickle Cell Disease

Caused by the lack or absence of factor VIII, a clotting factor generally present in our plasma that allows the blood to clot, hemophilia A is the most common form: 80% of patients suffering from this genetic disease are affected with the A variant. Because their blood cannot clot properly, patients are exposed to the risk of excessive bleeding at the slightest cut or injury, but also to the risk of spontaneous internal bleeding. Therefore, they are given at least three intravenous injections per week to control and prevent bleeding.

But new research in gene therapy may allow patients to eliminate these regular injections, which affect their quality of life. In a paper published in the New England Journal of Medicine, researchers from Queen Mary University in London, United Kingdom, announced that a single treatment resulted in 13 patients having normal or near-normal levels of blood clotting protein, factor VIII, even after one year.

Although this preliminary work had already been published in 2017, this time the authors announced that, three years after receiving treatment, all patients in the study still benefited from a substantial reduction in bleeding rates. The 13 patients No longer needed regular infusions of factor VIII to prevent bleeding.

Read Also: University of Connecticut Reverses Prader-Willi Syndrome in Lab by Restoring Silent Genes

Our 2017 paper showed that gene therapy could significantly boost factor VIII levels in men with hemophilia A. Our new data are critical in helping the scientific and medical communities understand this pioneering technology, explained Pasi. This latest study confirms both safety and the long-term beneficial impact of the treatment. A long-term treatment that effectively ends the life-long regime of regular injections can transform care and massively improve the quality of life of hundreds of thousands of people born with this challenging genetic condition.

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Hemophilia Cure: New Gene Therapy Offers Hope to Patients - Gilmore Health News

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Personalized Medicine Is About to Go Mainstream With Big Implications for Health Care – BRINK

A doctor speaks with a patient. Individualized drug therapies will disrupt many of the automated processes that have been tested and validated under quality control requirements.

Photo by Adam Berry/Getty Images

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The idea that we all could lead healthier, longer lives with the advent of personalized health care is a testament to the ingenuity and evolution of medicine.

That being said, cost, regulations and ethical issues are some of the main challenges still to overcome.

According to a recent white paper by PreScouter, Personalized Medicine: Moving From Average to Personal, personalized medicine will not only change the way patients are diagnosed and treated, but it will also disrupt current drug manufacturing protocols.

Large-batch production may become a thing of the past, and thats not necessarily a bad thing. Single-use technologies that produce small batches of drugs are safe and effective and dont have the financial burden of fixed capital investments and constant equipment upkeep.

On the other hand, individualized drug therapies will disrupt many of the automated processes that have been tested and validated under quality control requirements.

This could mean a shift in manufacturing to manual labor, which would require new production facilities and altered supply-chain logistics. Many current personalized treatments involve manufacturing products using a patients own cells. For example, chimeric antigen receptor (CAR) T-cell therapy necessitates the extraction of a patients T-cells, genetic reprogramming of those T-cells so they can fight cancer cells and reinfusion back into the patient.

This type of therapy is a far cry from the simple manufacturing of a drug in-house and exporting it to facilities that directly market to patients. Instead, it is a complex arrangement of appropriate shipping conditions, quality control and safety requirements. And this is all for a single patient. How personalized medicine will ultimately affect manufacturing and distribution is unclear, but the industry will need to adapt to fulfill individualized production needs.

Personalized medicines effect on health care costs is also not clear. It seems likely that specialized treatments made for individuals or small groups of people would increase costs because everyone would require individualized drug production.

On the flip side, genomic sequencing, which creates a roadmap for precision treatment decisions, is not as costly as it was 15 years ago and informed drug targeting could reduce the overall cost of health care by addressing the underlying causes immediately. Perhaps it will be most interesting to observe how insurance companies react to this treatment paradigm shift.

Source: Personalized Medicine: Moving From Average to Personal, PreScouter

Historically, health insurance companies have taken a conservative approach to coverage of genetic testing, which at this point is the primary foundation for identifying individual treatment strategies.

To circumvent this problem, U.S. lawmakers on both sides of the aisle are drafting legislation like the Advancing Access to Precision Medicine Act, which would allow states to apply for exceptions to the federal medical assistance percentage rate to cover whole genome sequencing clinical services for children whose diseases may have an underlying genetic component.

Genetic and genomic sequencing companies are also doing their part in making personalized medicine more palatable to insurance companies by offering to pick up part of the tab.

Under a contract between Harvard Pilgrim Health Care and Illumina, Harvard Pilgrim will cover to a predetermined limit prenatal genetic testing for women under the age of 35 with average-risk pregnancies, while Illumina, a next-generation genetic testing company, will cover the remaining cost. Partnerships like this may show the utility of genetic testing while potentially reducing the financial burden of lifelong health care for improperly diagnosed and treated conditions.

The number of approved personalized medicines has increased dramatically since 2005.

This consists of both conventional modalities as well as novel approaches; for example, in 2017, the U.S. Food and Drug Administration (FDA) approved the use of CAR T-cell therapy to treat B-cell lymphoma. Despite this rise in approval, some challenges to regulation have arisen.

Personalized Medicine at the FDA: Then and Now

Source: Personalized Medicine: Moving From Average to Personal, PreScouter

Personalized medicine is possible thanks to the thousands of people who have essentially donated their medical information.

Much of the data now stored in biobanks and used to make informed treatment decisions were gathered when personalized medicine was naught but a thought. Potential ethical issues of using this data, where informed consent was given at a time when precision medicine was inconceivable, have been resolved. The language of consent forms was broad and therefore ruled inclusive for modern research questions.

In an age of data compiling and sharing across the academic, industry and health care settings, the most important considerations are patient confidentiality, protection and ownership of information, and proper disposal of materials.

While interdisciplinary collaboration is great for innovation and discovery, it can also confuse the proper channels for information and sample handling. To get a handle on this, patients now have the power to control their information. Dynamic consent requires communication between the patient and the user of the patients information when the user plans to apply the data to a new project. The patient can deny or allow consent at any point and will always be informed of the manner in which their information is to be used.

But dynamic consent is neither widespread nor a requirement across all biobanks. Overall, there is a lack of consistency in consent requirements and perhaps a need for more strict and pervasive health data protection legislation.

As is the case with most scientific advancements, the regulatory, social and economic facets must play catch-up with the technology.

Clear and transparent processes and communication will be necessary to ensure that personalized medicine is practiced efficiently and effectively. With the power to address unmet medical needs at the individual level, universal personalized medicine is the goal.

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At 16, Shes a Pioneer in the Fight to Cure Sickle Cell Disease – The New York Times

In the months after the gene therapy infusion at Boston Childrens, her symptoms disappeared. But doctors had given her blood transfusions while she regrew her own red blood cells, so it was not clear if the absence of symptoms was because of the gene therapy or the transfusions.

As she recovered, Helen returned to her passion: dancing. One day, she came back from her school dance group and told her mother, My legs hurt. It feels funny. Ms. Cintron smiled. Thats soreness, she explained. Helen laughed. She had only known pain from sickle cell.

Helen was scheduled for her six-month checkup on Dec. 16. By then, all the transfused cells were gone, leaving only blood made by stem cells in her own marrow. The doctors would finally tell her whether the therapy was working.

The day before, she and her parents visited the New England Aquarium in Boston. She was able to stay outside on a cold, blustery day, watching one seal bully the others, barking and fighting. When Helen mentioned that her hands were cold, Ms. Cintrons stomach clenched in fear. But it was just a normal thing to feel on a winter day.

The next morning, Dr. Esrick delivered the news. Helens total hemoglobin level was so high it was nearly normal a level she had never before achieved even with blood transfusions. She had no signs of sickle cell disease.

Now you are like me, her father told her. I jump in the pool, I run. Now you can do it, too!

Her family, accustomed to constant vigilance, is only now getting used to normal life.

On Dec. 23, Helen and her mother flew to the familys new home in Arizona.

Helen recently described her transformed outlook on Facebook.

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At 16, Shes a Pioneer in the Fight to Cure Sickle Cell Disease - The New York Times

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Ultragenyx shares jump on ‘better than expected’ gene therapy data – FierceBiotech

Ultragenyx Pharmaceutical saw its shares jump around 27% in trading Friday after announcing positive top-line data out of its gene therapy trial.

Its a small number, just three patients that form part of a third cohort for the phase 1/2 study, as well as another small test but a longer-term look from the second cohort.

In cohort three testing the biotechs drug DTX301, an adeno-associated virus gene therapy for the treatment of ornithine transcarbamylase (OTC) deficiency, there were two confirmed female responders as well a third potential male responder who requires longer-term follow-up to confirm response status.

The Art of Recognizing Clinical Supply Risk Factors and Applying Proactive Measures to Avoid Study Delays and Disruptions

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Meanwhile, in cohort two, one female patient saw a new response after a year. The biotech added that the two previously disclosed responders in cohort one and two also remain clinically and metabolically stable at 104 and 78 weeks, respectively. Across all nine patients dosed in the study, up to six patients have demonstrated a response, it said in a statement.

RELATED: BIO: In conversation with Emil Kakkis, Ultragenyx CEO

OTC deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme OTC. Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood,

According to the National Organization for Rare Disorders, the severity and age of onset of OTC deficiency vary from person to person, even within the same family. A severe form of the disorder affects some infants, typically males, shortly after birth (neonatal period). A milder form of the disorder affects some children later in infancy. Both males and females may develop symptoms of OTC deficiency during childhood. Most carrier females are healthy, but may be prone to severe headaches following protein intake.

Analysts at Jefferies said the data looked better than expected and could be a positive spark to help turn the stock heading into 2020 events. It certainly did in the immediate term, with the biotechs shares up by 27% in mid-morning trading Friday.

We are encouraged to see a more uniform response at the higher doses including three female responders. To date, three patients in the study have discontinued alternate pathway medication and liberalized their diets while remaining clinically and metabolically stable, said Eric Crombez, M.D., chief medical officer of the Ultragenyx Gene Therapy development unit.

We are moving to prophylactic steroid use in the next cohort as we believe this could further enhance the level and consistency of expression that we have demonstrated so far.

Ultragenyx shares jump on 'better than expected' gene therapy data - FierceBiotech

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