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Category Archives: Genetic Therapy

Regenxbios investigational gene therapy shows promise in Hunter syndrome – PMLiVE

Regenxbio has shared positive results from a pivotal study of its investigational gene therapy in boys aged up to five years with mucopolysaccharidosis type 2 (MPS 2), a rare genetic disease estimated to affect one in every 100,000 to 170,000 births.

The company said the results will support a regulatory submission to the US Food and Drug Administration (FDA) this year under the accelerated approval pathway.

Also known as Hunter syndrome, MPS 2 occurs when a childs body does not properly digest certain sugar molecules. When these molecules accumulate over time, they can cause cell, tissue and organ dysfunction, including in the central nervous system (CNS).

There is currently no treatment to address fatal neuronopathic CNS disease in MPS 2.

Results from the pivotal section of the phase 1/2/3 CAMPSIITE trial, presented at this years WORLDSymposium, showed that MPS 2 patients treated with Regenxbios one-time gene therapy, RGX-121, achieved decreased levels of D2S6, a key biomarker of brain disease activity, below maximum attenuated disease levels 16 weeks after administration.

Patients receiving RGX-121 demonstrated an 86% median reduction in D2S6, which Regenxbio said is approaching normal levels.

The results were consistent with data from the dose-finding phase of the study, the company said, in which the majority of patients are "exceeding expectations" in neurodevelopmental function compared to natural history data up to four years.

The new long-term follow-up of those treated with RGX-121 in the dose-finding phase also showed there was a high rate of patients who were allowed to discontinue or remain nave to standard-of-care intravenous enzyme replacement therapy.

Kenneth Mills, president and chief executive officer of Regenxbio, said: "The data from this pivotal trial supports that RGX-121 changes the course of disease by restoring the gene missing in boys with Hunter syndrome and has the potential to significantly improve vital brain function for patients living with this debilitating disease.

"We are excited about these results and working quickly to complete activities to file the biologics license application this year.

Mills added that the company has already shared results from CAMPSIITE with FDA leadership, who have confirmed that, based on the totality of the evidence, they are open to accelerated approval if supported by the review of full data.

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Dravet syndrome gene therapy trials cleared in US and Australia – Dravet Syndrome News

Encoded Therapeutics has received clearance from U.S. and Australian regulatory agencies to launch Phase 1/2 clinical trials testing ETX101, itsDravet syndrome gene therapy candidate, in infants and young children with the seizure disorder.

In the U.S., the company plans to begin ENDEAVOR (NCT05419492), which will be enrolling about 22 youngsters, in the first half of the year. Eligible patients will be ages 6 months to 35 months, or nearly 3 years old, and will be recruited at study sites in California and Texas.

Concurrently, the WAYFINDER trial (NCT06112275) will be conducted in Australia. This study will be enrolling an estimated 4 children, ages 3 to 7 years old, at a single site in Melbourne.

The launch of both trials follows the clearance of regulatory submissions in their respective countries, which sought to test the safety and early efficacy of the experimental gene therapy. An Investigational New Drug (IND) application was filed with the U.S. Food and Drug Administration (FDA), while a Clinical Trial Approval (CTA) scheme was submitted to the Australia Therapeutic Goods Administration.

ETX101 represents a groundbreaking advancement in the therapeutic landscape for Dravet syndrome, with potential not only for seizure management but also for addressing the broader spectrum of non-seizure manifestations, Sal Rico, MD, PhD, Encodeds chief medical officer, said in a company press release.

Dravet syndrome is a type of epilepsy characterized by episodes of frequent and prolonged seizures, usually starting in the first year of life. These seizures are difficult to control with any of the many existing medications for epilepsy. Due to the frequency of seizures, the disease also may lead to cognitive and developmental issues.

In most patients, the disease is caused by mutations in the SCN1A gene, resulting in the production of a nonfunctional sodium channel at the surface of nerve cells, particularly in GABA-producing neurons a type of inhibitory nerve cell.

The deficient activity of sodium channels in these neurons is thought to reduce inhibitory signals in the brain, resulting in excessive neuronal activity that contributes to the development of seizures.

Although there are several therapies that can help control seizures, there are no disease-modifying treatments that have been approved as yet for the condition.

Dravet syndrome is a devastating disorder that necessitates a paradigm shift from conventional symptomatic management towards precise and targeted interventions at the genetic level, said Joseph Sullivan, MD, of the University of California, San Francisco (UCSF) and a principal investigator on the ENDEAVOR study. One of the U.S. study sites is at UCSF; the other site is at Cook Childrens Medical Center in Fort Worth.

ETX101 is a potential one-time, disease-modifying gene therapy targeting the underlying cause of Dravet syndrome. It is designed to restore the levels of the sodium channels in GABAergic neurons, by using a modified and harmless version of an adeno-associated virus (AAV) to deliver an engineered transcription factor to upregulate, or increase, the activity of the SCN1A gene. A transcription factor is a protein that regulates the activity of certain genes.

By targeting the underlying cause of Dravet syndrome, ETX101 has the potential to address the full scope of its symptoms.

Im hopeful that gene therapy will not just alleviate symptoms but address the root cause of Dravet syndrome, marking a potentially transformative approach in our quest to address the ongoing medical burden of families living with Dravet syndrome.

Preclinical studies in a Dravet mouse model syndrome showed that a single administration of ETX101 increased sodium channel levels in GABAergic neurons, and reduced the frequency of seizures in mice. The treatment also lowered the risk of sudden unexpected death in epilepsy.

Im hopeful that gene therapy will not just alleviate symptoms but address the root cause of Dravet syndrome, marking a potentially transformative approach in our quest to address the ongoing medical burden of families living with Dravet syndrome, said Sullivan, a professor of pediatric epilepsy, neurology and pediatrics at the UCSF Pediatric Epilepsy Center of Excellence.

The two new clinical trials are part of Encodeds global clinical development program, POLARIS, which aims to assess the safety and efficacy of ETX101 in infants and young children.

The program also will evaluate the initial effects of the therapy on seizure burden, and potential long-term improvements in neurodevelopment, according to Encoded.

ENDEAVOR and WAYFINDER are the first step in bringing a potentially one-time, disease-modifying gene therapy to the Dravet community, Rico said.

Kartik Ramamoorthi, PhD, the companys co-founder and CEO, said the launch of the two trials strategically positions Encoded to achieve pivotal program milestones in 2024.

We look forward to sharing additional company updates in the coming months, Ramamoorthi said.

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Dravet syndrome gene therapy trials cleared in US and Australia - Dravet Syndrome News

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CRISPR gene therapy Casgevy secures approval in Europe – Pharmaceutical Technology

Vertex Pharmaceuticals and CRISPR Therapeutics have scored another regulatory approval for Casgevy (exagamglogene autotemcel) after the European Commission granted conditional marketing authorisation to the gene therapy.

The CRISPR treatment is the first gene therapy approved in Europe for sickle cell disease and transfusion-dependent beta-thalassemia (TDT).

The European Commissions decision follows the positive opinion adopted by the European Medicine Agency (EMA) in December 2023. A condition marketing authorisation is valid for one year and can get renewed annually as more clinical data gets reported.

The UK Medicines and Healthcare products Regulatory Agency (MHRA) was the first authority to approve Casgevy in November 2023. The US Food and Drug Administration (FDA) followed suit with an initial approval for sickle cell disease in December 2023, and a TDT approval in January 2024.

In all three regions, the therapy is approved for the treatment of patients aged 12 and older with recurrent vaso-occlusive crises. TDT patients who can undergo haemopoietic stem cell transplantation but do not have a human leukocyte antigen-matched related donor are also eligible for the therapy. Vertex states that the latest approval makes available the treatment option to more than 8,000 patients.

Casgevys price has been under the spotlight since gaining regulatory approvals. Vertex and CRISPR have set a price of $2.2m for the one-time treatment. The companies have not made public the price in Europe, where access will be determined based on negotiations with national authorities.

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However, Vertex stated early access for TDT patients in France has been organised ahead of national reimbursement. A total of 25 authorised treatment centres are slated to open in Europe, with three already operational.

While Vertex and CRISPR have the gene therapy market in sickle cell disease and TDT to themselves in Europe, the biotechs are competing with bluebird bio in the US. On the same day the FDA signed off on Casgevy in sickle cell disease, the agency also approved bluebird bios cell-based gene therapy Lyfgenia (lovotibeglogene autotemcel). The company already had its gene therapy Zynteglo approved to treat TDT in August 2022. Lyfgenia is priced at $3.1m while Zynteglo is priced at $2.8m.

Vertexs CEO Reshma Kewalramani said: Now our goal shifts to translating these approvals into real-world patient benefit and ensuring access and reimbursement across the globe.

Cell & Gene Therapy coverage on Pharmaceutical Technology is supported by Cytiva.

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CRISPR gene therapy Casgevy secures approval in Europe - Pharmaceutical Technology

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A gene therapy for chronic pain – Drug Discovery News

Julia Alterman, PhD

Assistant Professor University of Massachusetts Chan Medical School

Small interfering RNAs (siRNAs) are a new class of oligonucleotide therapeutics that degrade disease-causing mRNA. However, restrictions imposed by the blood-brain barrier and short circulation times limit the therapeutic potential of siRNAs for brain disorders. In this webinar, Julia Alterman will discuss an innovative approach to achieve potent and long-term siRNA activity in the brain using a novel chemical scaffold that enables widespread siRNA brain delivery and gene silencing.

Topics to be covered

Wednesday, October 11th, 2023 | 2:00 PM - 3:00 PM Eastern Time This webinar will be available to view live and on demand.

Speaker

Julia Alterman, PhD

Assistant Professor University of Massachusetts Chan Medical School

RNA editing catalyzed by adenosine deaminases acting on RNA (ADARs) occurs naturally at thousands of sites across the human transcriptome. This process profoundly affects gene expression and influences a wide range of human diseases from cancer to neurological disorders. In this webinar, Michael Breen will discuss the role of ADAR-mediated RNA editing in neurodevelopmental disorders and how his team develops site-directed RNA editing therapeutics.

Topics to be covered

Wednesday, April 5th, 2023 | 2:30 PM - 3:30 PM Eastern Time This webinar will be available to view live and on demand.

Speaker

Michael Breen, PhD

Assistant Professor Icahn School of Medicine at Mount Sinai

RNA editing catalyzed by adenosine deaminases acting on RNA (ADARs) occurs naturally at thousands of sites across the human transcriptome. This process profoundly affects gene expression and influences a wide range of human diseases from cancer to neurological disorders. In this webinar, Michael Breen will discuss the role of ADAR-mediated RNA editing in neurodevelopmental disorders and how his team develops site-directed RNA editing therapeutics.

Topics to be covered

Wednesday, April 5th, 2023 | 2:30 PM - 3:30 PM Eastern Time This webinar will be available to view live and on demand.

Speaker

Michael Breen, PhD

Assistant Professor Icahn School of Medicine at Mount Sinai

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A gene therapy for chronic pain - Drug Discovery News

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CHOP treats deaf children with Eli Lilly gene therapy, but deaf community objects – The Philadelphia Inquirer

An 11-year-old deaf boy is now able to hear in one ear after undergoing a gene therapy treatment at Childrens Hospital of Philadelphia, one of the first such cases in the world. A second boy, aged 3, is scheduled to receive the treatment at CHOP on Friday.

Yet the news has drawn dismay from some who can best appreciate whats at stake: other deaf people.

For many deaf people, deafness is not something that needs to be fixed. Unlike other medical conditions that have been treated with gene therapy, deafness is not a disease and it doesnt deprive someone of a long, rich life. Similar concerns were raised years ago with the invention of cochlear implants, electronic devices that merely approximate the sense of hearing.

But physicians say gene therapy is likely to yield even better results, providing normal or near-normal hearing ability to thousands of people born with rare types of deafness. More than a decade after the first successful gene therapy was tested at CHOP, the technology has come of age, enabling doctors to treat conditions from blindness to hemophilia. The new treatment for deafness required still more innovation by the Philadelphia hospital: developing a delicate procedure to reach a precise location in the inner ear.

Sara Novi, a novelist who lives in Montgomery County, was among many deaf people objecting on social media that they never asked for the innovation. She thinks society would do better to spend more on sign-language education and other underfunded support services, rather than a cutting-edge therapy that is likely to cost more than $1 million per patient.

Human diversity should be cherished, not winnowed out for the convenience of the majority, she said by email. Is it ethically sound to experiment on a child for a non-lifesaving treatment from which the benefit is questionable, and who cannot legally consent?

The procedure on 11-year-old Aissam Dam was performed with the full consent of his hearing parents. His father brought him to Philadelphia from Spain for the treatment in October. Within weeks, he was able to hear sound for the first time, going from profoundly deaf in the treated ear to having a mild to moderate hearing loss.

Physicians say he is likely too old to learn to speak, a complex skill that requires the flexible, plastic brain of early childhood. Still, he can hear his parents voices, car engines, and other novelties. The 3-year-old scheduled for treatment on Friday, along with younger study participants to come later, is likely to do much better with spoken language.

From a technical standpoint, theres no question that the treatments represent a big step forward, requiring innovation both in science and surgery.

Participants in the studies were born with rare genetic mutations that prevented cells in their inner ears from making a type of protein needed for normal hearing. Yet their ears were otherwise intact, like a microphone that doesnt work simply because of a faulty connection, said CHOP surgeon John A. Germiller, who specializes in treating the ear, nose and throat.

The microphone is working. The wires working, he said. But theres a break in the electrical connection.

Thats why it made sense to try gene therapy, which involves replacing or altering mutated genes. For this type of deafness, it would require injecting participants such as Aissam with a normal, unmutated copy of the genetic recipe for that missing protein.

But this particular recipe (a gene called OTOF) was too big to load onto gene therapy vectors the inactivated viruses that are used to deliver the genetic instructions inside recipients cells. (Think of the instruction manual for an alarm clock vs. one for a computer.)

So scientists had to break the recipe in two. Half of it was loaded onto some of the viral vectors, the remaining half onto others. The two halves of the recipe could then be injected together into the persons ear cells, where they would reassemble into one complete set of instructions so the missing protein could be made.

The version administered at CHOP was manufactured by Akouos Inc., a subsidiary of Eli Lilly.

But the injection was no easy task. The therapy had to be delivered to tiny hair cells inside the cochlea, the snail-shaped apparatus located behind the eardrum.

Thats where Germiller came in. A decade earlier, he had pioneered a delicate technique to perform a different procedure inside the cochlea. Akouos officials asked the CHOP surgeon whether he could modify his method slightly to administer the gene therapy, and he said yes.

For the October procedure, Germiller used one hand to insert an endoscope into Aissams ear, enabling him to watch what he was doing on a big computer screen. In the other hand, the physician held a slender tool called an elevator, which he used to gently peel back one edge of the boys eardrum.

Next came a third tool, an ultra-thin needle with the end bent at a slight angle. He inserted it past the eardrum and through a tiny membrane on the outer wall of the cochlea, then depressed a small pump to inject two droplets of the therapeutic solution.

Germiller demonstrated recently in a training lab at CHOP, reenacting the steps on a child-sized mannequin while watching the computer screen above.

We see exactly where were going, he said.

Several weeks later, after swelling from the procedure subsided, audiologists piped a series of beeps into Aissams ear at a range of volumes, asking him to raise his hand to indicate whether he could hear. Germiller said the boys hearing ability varies from frequency to frequency, but it is roughly equivalent to that of a person with normal hearing who wears foam earplugs.

Speaking to the New York Times by sign-language interpreter, Aissam said he welcomed the novel sensations.

Theres no sound I dont like, he said.

Among the deaf people with concerns about the gene therapy is one who also happens to be a scientist.

Sara Blick-Nitko, a post-doctoral scholar at the University of Rochester School of Medicine and Dentistry, said gene therapy makes sense if it could help an older person who lost hearing as an adult. But for someone who is born deaf, the treatment smacks of eugenics, erasing a genetic trait without regard for its associated rich culture and language.

Being deaf is not a disease, she said. It truly enriches your life, when you have access to your native language and the resources to be successful.

With cochlear implants, the deaf communitys concern is not so much the devices themselves, but the way they are used. They are often implanted in deaf children who are born to hearing parents, many of whom mistakenly think that the devices provide normal or near-normal hearing. As a result, such children, who often struggle to learn to speak, also are less likely to be taught a full-fledged language that anyone can learn from infancy: sign language.

Germiller, the CHOP surgeon, is well aware of these concerns. But he says that for certain rare forms of deafness, gene therapy is likely to work even better than cochlear implants, potentially providing the recipient with normal, natural-sounding hearing.

William J. Parkes, an ear, nose, and throat specialist at Nemours Childrens Health who is not involved with any of the studies, agreed.

This is the next major breakthrough, he said.

Perhaps but only when it works, countered Jennifer Reesman, a Maryland-based neuropsychologist who counsels deaf and hard-of-hearing children and their families.

In another one of the gene therapy studies, a joint effort by researchers from Harvard and China, five deaf children gained the partial ability to hear after treatment, while a sixth did not.

Without knowing how well the therapy will work in any one case, it is essential that all deaf children learn sign language from infancy, when the brain is best at picking up languages, Reesman said. If their parents also want them to speak, thats great, too, just like raising a child to speak English and Spanish.

How do we ensure that were providing solid access to language so a child can be successful no matter what their outcome is regarding access to sound? she said.

For some in the deaf community, decisions to get gene therapy or cochlear implants are best left to the individual once they reach adulthood.

Yet therein lies a medical catch-22: The people who stand to gain the most from gene therapy are infants, so the decisions generally will be made by their parents. And because most parents of deaf children can hear, it can be hard for them to appreciate the value of the deaf community.

Novi, the Montgomery County novelist who is deaf, calls it a case where science has outpaced a discussion of the ethical nuances involved.

Doctors will argue that there is convenience to be gained, but I dont think easy always equals best, she said. Lots of marginalized folks experience barriers in our society, but that doesnt mean we should manipulate their genes to make it easier for them.

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Sangamo Shoots Up As Regulatory Path Clears For Fabry Gene Therapy – Scrip

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Sangamo Shoots Up As Regulatory Path Clears For Fabry Gene Therapy - Scrip

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