March 25, 2021

Frequently Asked Questions

Who is Axovia Therapeutics?

Axovia is creating the first gene therapies developing potentially curative therapies for patients with ciliopathies such as the rare Bardet-Biedl syndrome (BBS). A life-threatening neurometabolic condition, BBS affects patients worldwide. It causes progressive vision loss, severe obesity, learning disability and kidney disease. Currently, there is no effective treatment available for BBS patients.

What’s is Axovia’s mission?

To develop disease-transformative therapies that target key aspects of ciliopathies, addressing the devastating impact of the disease head-on for patients, their families and caregivers.

When was Axovia founded?

Axovia was founded in January 2020.

Where is the company headquartered?

Axovia Therapeutics is headquartered in Central London, UK.

What is Axovia’s story? Who founded the company and why?

Axovia Therapeutics was founded by Phil Beales and Victor Hernandez, clinician and ciliopathy pioneers at the University College London (UCL). The team has been working for over two decades with Bardet-Biedl syndrome patients to understand the causes of this devastating disease. As there are no cures for BBS, the duo is designing the first potentially transformative therapies with the aim to prevent blindness, metabolic diseases such as diabetes and obesity, as well as learning difficulties and autism.

How does the company fit in the gene therapy space?

There are no other companies working to deliver potentially curative gene therapies for BBS.

How did CEO Phil Beales get involved in ciliopathies?

Phil Beales met his first patient with BBS in the early ’90s in East London. Not knowing what caused the disease but realizing it was inherited, he was determined to find the etiology by identifying the first gene for BBS and then working out the mechanism of disease. He has since identified the genetic basis of many other ciliopathies.

What is the impact of this disorder?

By focusing on the genetics of BBS first, the Beales team with collaborators discovered that dysfunction of cellular cilia lay at the heart of the condition. BBS is the archetypal ciliopathy that has led the way to understanding the cause of many more conditions involving the eye, kidney, brain, bone and endocrine systems now known collectively as the ciliopathies.

We now know there are at least 22 genes associated with BBS, of which the most commonly mutated is BBS1, the first gene therapy focus.

What are Axovia’s areas of focus?

Axovia has received its Series Abased on our founders’ IP, scientific track record, know-how and clinical expertise within the field of ciliopathies. Axovia plans to develop gene replacement therapies to treat ciliopathies that together affect up to 1 in 700 individuals spread across at least 35+ diseases. These manifest a broad range of clinical problems including visual loss, neurological deficits, hormonal deficiencies to metabolic disease and kidney failure.

Will gene therapy stop patients with BBS losing sight?

This is the ultimate goal for our first planned treatment for BBS1.

Will gene therapy help older people who have already lost a lot of their vision?

It is believed that gene therapy can only preserve existing vision but not restore already lost photoreceptor cells. We are still in the early exploratory stages of BBS1 gene therapy development and hope we can treat a broad range of patients.

Will gene therapy treat other aspects of BBS?  Will this be in all age groups?

We expect to treat obesity whilst we are working on developing a treatment for the kidney and other organs in the future beginning with the youngest patients first .

What about autism and intellectual disability?  Will gene therapy help with those too?

Our hope is that our treatments can be beneficial in these areas too.

Please describe your gene therapy approach. How does your AAV technology work?

Patients with many genetic diseases have a faulty or missing gene. Gene therapy involves introducing healthy copies of the dysfunctional or missing gene back into the body to restore the production of a protein and the natural function of the cells.

Through a gene therapy treatment, a vehicle or vector is used to deliver that gene into the target cells. In our case, that vector is an adeno-associated virus (AAV). AAV is a very effective vector because it is nonpathogenic (does not cause disease) but is very efficient at gaining access to the target cell. Since the AAV vector is non-integrating to the patient’s DNA, we are able to deliver a working copy of the gene without altering the patients’ genome. This helps restore production of an important protein and, in turn, the function of the organ in the patient’s body.

When you do expect to start your first in-human study?

We expect to submit initial IND for BBS1 in the second half of 2022. We are constantly evaluating opportunities to expedite product development timelines to get products to patients who need them as quickly and safely as possible.

Do you have any data results you can share?

Our studies are in the planning and early execution phase. We are expecting data from our preclinical  studies later this year. However, we do have promising data from supportive academic studies. The potential shown by the academic data gives us a high degree of confidence in the success of our IND-enabling pre-clinical studies and future in-human studies.

Will you be disclosing pre-clinical data publicly?

We plan to disclose pre-clinical study data when it is available.