Success in Gene Therapy

Positive case study on gene therapy:

 

Infant with rare, incurable disease is first to successfully receive personalized gene therapy treatment

  • An infant was diagnosed with a very rare condition and scientists were able to create a personalised gene editing therapy. The condition is called  carbamoyl phosphate synthetase 1 (CPS1) deficiency

  • The technology used could lead to a large range of personalised treatments in other parts of the body

  • They used the gene editing platform CRISPR, the way they used this platform is by correcting a gene mutation in the baby's liver cell that led to the genetic condition

  • This was the first patient where CRISPR gene editing was used to create a personalised therapy

  • More about the condition:

  • This condition is when protein metabolises in the liver the body is not able to fully break down the by-products which leads to a build-up of ammonia in the body that becomes toxic

  • High levels of ammonia in the body could lead to a coma or brain swelling and could also potentially be fatal

  • The personalised therapy was delivered to the baby at almost 6 months old and experts believed the therapy to be effective almost immediately

  • The child was given low levels to start with to ensure it was safe 

What conditions are currently treated using gene therapy:

The number of conditions that gene therapy can treat is limited because there is no one single way to carry out gene therapy, each gene therapy treatment is tailored to the specific disorders which is why there is only a set amount of conditions that gene therapy can treat. Gene therapy is also a very complex process which is why, as well as being specific to the condition, creating new gene therapies can take a very long time. There are also many challenges that each condition may present when creating a new gene therapy, for example a genetic disorder that is caused by multiple defective genes is harder to treat that a disorder with only one faulty gene

 

A LIST OF GENE THERAPIES THAT HAVE BEEN APPROVED FOR CLINICAL USE IN THE EUROPEAN UNION:

Blood cancers

Blood stem cell transplants are used in the treatment of leukaemia, lymphoma, myeloma, myelodysplastic syndrome, and myeloproliferative disorders.

Immune-mediated disorders

Severe Combined Immunodeficiency (SCID)

Anaemia

Sickle cell disease

Beta-thalassaemia

haemoglobinopathies (diseases affecting haemoglobin, the oxygen-carrying molecule in blood)

Melanoma

Cerebral adrenoleukodystrophy

Metachromatic leukodystrophy

Multiple sclerosis

Spinal muscular atrophy

Crohn’s disease

Retinal dystrophy

 

Most Recent Developments In gene therapy

The latest advances in cell and gene therapy

 

N.B CGT'S stands for cell and gene therapies

 

  • 76 CGT's have been have been launched since the first CGT was approved by global regulatory bodies in 2004

  • Most of these CGT'S were used to treat certain cancers but more recently it has expanded in to a broader range

  • For example in 2023 new CGT's were released to treat type 1 diabetes and Duchenne muscular dystrophy

  • The market for CGT's is estimated to reach over 40 billion dollars by 2027

  • Global regulatory bodies include companies such as the FDA ( the US food and drug administration) and the MHRA (the Medicines and Healthcare Products Regulatory Agency)

  • We can see that in 2023 there was an increase in the amount of CGT's that became approved by these global regulatory bodies

  • Furthermore, the MHRA has become the first regulatory body to approve treatments that involve the gene editing tool CRISPR ( clustered regularly interspaced short palindromic repeats) to treat sickle cell disease

Current Gene Therapy Trials

 

Information about the trial:

  • Cystic fibrosis is caused by one faulty gene, the CFTR gene which causes a build-up of mucus especially in the lungs.

  • Previously people with cystic fibrosis had to have the mucus build up physically removed or use antibiotics.

  • Researchers first found the cause for cystic fibrosis in 1989 ( that it was due to a faulty CFTR gene) and from then on it was always wondered whether gene therapy could be used to treat this condition.

  • There have been two ways that have been developed and testing for treating cystic fibrosis with gene therapy the first being the use of a viral vector. This is where the CFTR gene enters the body through a deactivated virus, this is effective as natural properties allow them to enter the lungs. However, the discovered set back of this method is that repeated use may cause a triggered immune response as the body may recognise and destroy the viral vector.

  • The second tested method is the use of a non-viral vector method to deliver the healthy CFTR gene into the body. The way this is done is where the CFTR gene is packaged inside a liposome (which is a fatty coating) and is then this can also enter the lungs and not trigger the same immune response as the viral vector.

  • Evidence that non-viral vectors work: In a small study of people with cystic fibrosis it is shown that when the non-viral vector was delivered the correct CFTR gene worked well for several weeks after it was delivered to the patient.