5 Breakthroughs Shaping Gene Therapy in Q4

9-10 Minutes

Around the globe, a staggering 320 million people grapple with the challenges of rare geneti...

By Emily Davies

Senior Content Writer

Around the globe, a staggering 320 million people grapple with the challenges of rare genetic diseases, with around 4,000 medical conditions predicted to be a result of gene disorders.

In the vast Life Sciences landscape, it was only a matter of time until the possibilities encoded within our very DNA would become a focal point for scientific exploration, and one technological frontier that has captured the spotlight like never before is gene therapy.

The research area is still relatively new in the grand scientific scheme of things, but the last couple of decades have seen an intensified focus on unravelling the possibilities embedded within our genetic code. What’s helped is that the development of DNA editing and engineering tools has deepened our fundamental understanding of our biology.

Arguably, the most significant step forward to transformative breakthroughs in gene therapy was marked by the advent of Nobel Prize-winning CRISPR technology in 2012. Since then, DNA editing has seen a seismic shift due to the technology’s simplicity, accuracy, and efficiency.

In fact, just looking at the last couple of months, gene therapy has become a hotbed of activity, drawing attention from not only researchers but from unlikely Life Sciences companies who are extending their R&D activities and capabilities to include the therapy area.

From rewriting the genetic playbook to combatting diseases that have long eluded conventional treatments, the race to harness the power of gene editing technology is accelerating at an extraordinary pace. In this article, we’ll investigate five of the most groundbreaking stories that have recently unfolded in this research area. 


First, let’s revisit what exactly gene therapy entails… 

In each and every one of us, our genes carry DNA material that’s needed to make proteins that are essentially the building blocks of the human body. They contain regulatory instructions so our bodies know when to use those particular genes.

Yet sometimes, there can be a glitch in the system – either one inherited from our parents or one that arises over time after our genes become damaged through mutation, which, unfortunately, can lead to disease.

Traditional treatment methods tend to manage diseases, usually requiring a lifetime of injections, infusions, monitoring, adjustments, and ongoing doctor’s appointments. To combat the burden of ongoing treatments and daily disease management, gene therapy aims to prevent and cure genetic disorders by targeting the root cause.

To discover precisely how gene therapy works and what illnesses it can treat, head over to our previous article: Is Gene Therapy The Future of Medicine?


So, what are the most exciting updates in gene therapy today?


1.    The UK became the first country in the world to greenlight a CRISPR gene editing therapy

The pioneering CRISPR technology, a Nobel Prize-winning precision gene editing tool, has been turning heads in the world of R&D for the past decade. Now, in the short 11 years since its initial discovery, CRISPR has achieved a significant milestone – it has been granted its very first approval!

Just last week (November 16th, 2023), headlines flooded Life Sciences media as the UK became the first-ever country to approve a CRISPR gene editing therapy for humans. Casgevy, having triumphed in two global clinical trials focused on tackling sickle cell disease and beta thalassaemia, secured approval from the Medicines and Healthcare Products Regulatory Agency (MHRA).

But let’s rewind for a second to understand the conditions Casgevy is targeting. Sickle cell disease is caused by a defective gene that triggers the creation of abnormal haemoglobin, the oxygen-carrying component in red blood cells. As a result, the cells become malformed, unleashing episodes of extreme pain. Now, enter beta thalassaemia, a close relative to sickle cell disease. In this condition, the defective gene leads to deficient levels of haemoglobin in red blood cells, further complicating the delicate balance within the body.

Up until now, the only permanent treatment option available for sickle cell and beta thalassaemia patients is a risky bone marrow transplant. See, patients first need to find a closely matched donor, but even then, while only available to a small fraction of people living with the conditions, there’s a risk that their body might reject the transplant.

So, how does Casgevy work? 

The revolutionary new treatment, developed by Vertex Pharmaceuticals and CRISPR Therapeutics, works by editing the faulty gene inside a patient’s bone marrow stem cells, allowing the body to produce functioning haemoglobin.

Essentially, stem cells are removed from the patient, then in a lab, CRISPR technology is used to silence the faulty gene. Those edited cells are then infused back into the patient, restoring healthy haemoglobin production and relieving symptoms of sickle cell disease and beta thalassaemia.

And the results from the clinical trials are nothing short of remarkable! In a global triumph, 28 out of 29 sickle cell patients were free of severe pain, and 39 out of 42 beta thalassaemia patients no longer needed blood transfusions for at least a year.

The two visionary manufacturers behind the therapy, Vertex and CRISPR, report that around 2,000 Brits aged 12 years and above dealing with repeated episodes of extreme pain are expected to be eligible for Casgevy’s treatment. Both companies also expect their innovative gene therapy to receive further approval in the US as early as next month, so keep your eyes peeled stateside!


2.    Ultragenyx is forming a new company focused on tackling Alzheimer’s through gene therapy

Rare disease-focused biopharma Ultragenyx is building out a new company, Amlogenyx, to focus on research it claims could lead to a new way of treating Alzheimer’s – a disease that affects around 1 in 9 people aged 65 and older, with at least 55 million people living with it worldwide.

So, how did Ultragenyx’s gene therapy journey begin?

It came after researchers stumbled upon an enzyme known as protective protein/cathepsin A, or PPCA, and found that it has the unique ability to break up a form of amyloid beta – the protein widely believed to be responsible for Alzheimer’s debilitating effects.

In the quest to combat Alzheimer’s, Life Scientists have long focused on clearing amyloid plaques in the brain. However, despite decades of dedicated research and significant financial investments (we’re talking billions of dollars), there’s still no cure for the disease.

In fact, up until now, the FDA has approved just two drugs that are designed to slow down Alzheimer’s progression by targeting amyloid plaques. The first was Biogen’s Aduhelm (who later pulled the plug on their real-world study and withdrew its application for approval in Europe); the second was Eisai’s and Biogen’s drug Leqembi, which was freshly approved in July this year.

Since these monoclonal antibody drugs are modest in their effects, Amlogenyx’s gene therapy holds promise to be a more robust and more potent treatment for patients. The plan is to use a viral vector to deliver the PPCA enzyme, which will precisely cut the amyloid at a specific point known as the C terminus. 

As of right now, clinical development is in its earliest stages. Still, just last month (October 2023), Ultragenyx told investors that the therapy’s initial studies on mice have yielded promising results, with PPCA reducing the amyloid plaque by more than 60% in just three months.

With Alzheimer’s having devastating effects on so many around us, we look forward to following Amlogenyx’s efforts in the next stages of clinical development.


3.    Intellia Therapeutics is heading into Phase III gene editing trials to tackle transthyretin amyloidosis (ATTR)

Just last month, the FDA gave Intellia Therapeutics the thumbs up to kick off their Phase III clinical trial for a gene editing therapy they’re developing for a rare, progressive, and potentially deadly disease, transthyretin amyloidosis, or ATTR.

ATTR is caused by the build-up of abnormal proteins, known as amyloids, in the body’s organs and peripheral nerves. These protein deposits can cause organs to not function properly and lead to heart and nerve damage, resulting in loss of sensations and muscle weakness. While rare, many researchers believe the disease is underdiagnosed due to a lack of awareness and the fact that its symptoms are similar to those in more common conditions.

Intellia’s Phase III trial is the first of its kind in the US. It uses a CRISPR-based therapy that works in vivo, essentially editing genes inside the body rather than in cells extracted from patients that are then modified in a lab.

Known as NTLA-2001, Intellia’s newest treatment is designed to be a one-and-done solution for ATTR patients. The therapy utilises CRISPR/Cas9, which kills the troublemaking gene, shutting down the production line for amyloids that lead to toxic build-up and result in progressive heart and nerve damage.

So far, early trials have had encouraging results, with a significant drop, ranging between 86-93%, in levels of the misshapen proteins responsible for the challenges posed by ATTR. The participants undergoing the treatment also experienced minimal side effects.

This is massive news for ATTR patients because up until now, there have been very few effective treatments for the disease. Granted, several medicines have been brought to market to treat nerve damage caused by the condition, but each drug comes with its own set of challenges, whether that’s a lifetime of injections, infusions or a hefty price tag.

If Intellia’s solution continues to perform well in these late-stage clinical trials, it could be the one-time fix ATTR patients have been waiting for. Fingers crossed!


4.    Excision Biotherapeutics pulled back the curtain on their gene editing therapy for HIV patients

At the end of last month (October 2023), San Francisco-based biotech Excision Biotherapeutics announced that the first three HIV-positive adults received their exciting gene editing treatment in a small clinical trial. The good news is that it all went off without a hitch!

Excision’s therapy, EBT-101, is here to change the game for HIV patients. While current antiretroviral treatments suppress HIV and prevent it from progressing into AIDS, they fall short of fully eliminating the virus, which can hide in the body’s viral reservoirs. EBT-101, however, has the potential to address this shortcoming.

So, how does it work?

The treatment uses CRISPR/Cas9 technology, delivering EBT-101 into the body via an adeno-associated virus. A DNA-cutting enzyme and two strips of RNA act like a GPS in the body, guiding the editing process to specific sites on the HIV genome. Once cut, the virus should be unable to replicate itself.

Off to a promising start, the early-stage trials have already shown no severe side effects or toxicity that could potentially limit the treatment. Better yet, EBT-101 was still detectable in all three patients’ blood four weeks after infusion.

As we look toward the next phase of clinical trials, the dosage of EBT-101 is set to increase, with nine patients enrolling to receive the therapy. We’re holding out hope that Excision could change treatment options for HIV patients all over the globe!


5.    Verve Therapeutics unveiled a gene editing technology that could reduce ‘bad’ cholesterol

In a recent trial, Verve Therapeutics discovered that a single infusion of their gene-editing medicine, VERVE-101, could reduce patients’ LDL (or ‘bad’) cholesterol levels.

LDL cholesterol is considered the ‘bad’ cholesterol because it contributes to fatty build-up in the arteries, which increases the risk of heart attacks, strokes and peripheral artery disease (PAD).

For this clinical trial, Verve tested its treatment on individuals coping with hereditary conditions that leave them susceptible to developing clogged arteries and heart attacks.

So, how exactly does VERVE-101 work its magic?

It relies on CRISPR editing techniques to tweak liver gene cells. To do so, the treatment is able to switch off a cholesterol-raising gene called PCSK9, which is found in the liver. As a result, LDL cholesterol levels are lowered.

So far, clinical trial results have unveiled some impressive outcomes, with patient groups that received higher infusion rates of the treatment seeing PCSK9 be lowered by an enormous 84%. In addition, patients who received higher treatment doses had a reduction of LDL cholesterol-related proteins that lasted 2.5 years.

To put these clinical results into perspective, current treatments for high cholesterol involve things like prescription statins and PCSK9 inhibitors. While these can help keep cholesterol levels at bay, they also rely on strict adherence and can result in potential side effects like muscle pain and memory loss.

Of course, more research into this gene-editing technology is needed, but considering 59% of the population suffers from high cholesterol, the potential for this treatment is undeniable.



It’s evident that the last 12 months have marked a transformative period, where the promises of gene editing technology are translating into tangible breakthroughs. From rewriting the genetic code to potentially providing one-and-done solutions for complex diseases, these clinical development stories underscore the boundless potential of gene therapy in reshaping the Life Sciences landscape and transforming patient outcomes all over the globe. 

Want to get involved in the genetic innovation that’s transforming global health? Or are you looking to expand your team to boost your R&D efforts? We might just be the missing piece! Contact us today to discover how we can support your next strides in gene therapy.

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