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What conditions can currently be treated using gene and cell therapy?

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Gene and cell therapies can offer hope for treatment to people living with rare or difficult-to-treat conditions. What conditions currently have authorised therapies in Europe?

Types of conditions currently treated using gene and cell therapies

The following conditions can currently be treated by licensed gene and cell therapies within Europe. You can find more information about a condition, existing treatment, and current research in our condition-specific fact-sheets.  We are continually developing and adding new factsheets.

Blood cancers

Blood cancers arise from an overproduction of certain cells in the blood system. The nature of the cancer depends on the type of cell being produced in excess.

Blood stem cell transplants are used in the treatment of leukaemia, lymphoma, myeloma, myelodysplastic syndrome, and myeloproliferative disorders. The patient’s stem cells which are producing faulty cell types, are removed via chemotherapy. (This also removes the healthy, non-cancerous cells; patients are vulnerable to infection and other health complications at this stage of therapy.) They are then replaced either with healthy donor cells, or with their own cells which have been altered in a lab., which are producing some faulty cell types, and replace them with healthy donor cells. This is often colloquially referred to as a bone marrow transplant, bone marrow stem cell transplant, or haematopoietic stem cell transplant. You can read our factsheet about blood stem cell transplants here.

A hybrid gene and cell therapy called Chimaeric Antigen Receptor T-Cell therapy (CAR-T therapy) is used to treat certain kinds of aggressive blood cancers. This is a personalised treatment in which the patient’s own immune cells are collected, ‘genetically reprogrammed’ in the lab to target their cancer, and reintroduced to the body. In children and young people, CAR-T therapy is used to treat certain leukaemia (B-cell acute lymphoblastic leukaemia), and in adults it is used to treat certain lymphomas (diffuse large B-cell lymphoma, primary mediastinal B-cell lymphoma) and multiple myeloma. As this is a highly complex procedure, it is typically attempted only after more routine treatments have not been effective. You can read our factsheet about CAR-T therapy here
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Immune-mediated disorders

Severe Combined Immunodeficiency (SCID)

Severe Combined Immunodeficiency (SCID) is a group of genetic disorders in which an individual’s immune system is severely compromised, and cannot mount a suitable defence against infection.

SCID can be treated by blood stem cell transplants to replace the faulty immune cells with healthy donor cells. You can read more about blood stem cell transplants here.

When a suitable donor cannot be found for blood stem cell transplant, gene therapy, or combined cell and gene therapy, may be appropriate to try to correct the disease-causing mutation. You can read more about gene therapy here.

Other immunodeficiencies

Congenital immunodeficiencies often result from malfunctioning immune cells called T-cells. These cells are responsible for targeting and destroying foreign, ‘non-self’ cells. Such immunodeficiencies can be seen in conditions such as DiGeorge Syndrome (a congenital condition which can also cause learning difficulty, heart problems, or hormone problems, though the severity of symptoms varies greatly between individuals), or ataxia-telangiectasia (a genetic neurodegenerative disorder).

T-cell deficiencies can be treated by blood stem cell transplants to replace the faulty immune cells with healthy donor cells. You can read more about blood stem cell transplants here.

Acquired loss of immune function

In individuals born with a functioning immune system, immune functioning may be compromised later in life. This may be due to by illness (such as HIV/AIDS), by medical interventions (such as radiation therapy for cancers), or due to environmental factors (such as radiation poisoning).

This acquired loss of immune function can be treated by blood stem cell transplants to replace the faulty immune cells with healthy donor cells. You can read more about blood stem cell transplants here.

Non-immune-mediated blood disorders

Anaemia

Anaemias are a set of disorders characterised by a decrease in the number of red blood cells, which are responsible for transporting oxygen around the body. Anaemia may be acquired or congenital. It is often caused by a mutation leading to either an under-production of red blood cells, or the production of faulty red blood cells. Examples include aplastic anaemia, pure red cell anaemia, and paroxysmal nocturnal haemoglobinuria. It can also be caused by lifestyle factors, such as diet.

When anaemia is caused by a genetic mutation, it can be treated by blood stem cell transplants to replace the faulty blood-producing cells with healthy donor cells. You can read more about blood stem cell transplants here

Sickle cell disease

Sickle cell disease (SCD) is a group of genetic diseases. The most serious type is called sickle cell anaemia. People with SCD produce abnormally-shaped red blood cells. These abnormally-shaped cells do not live as long as healthy red cells. The can 'clump' and block blood vessels, depriving tissues of oxygen. SCD is a lifelong condition requiring ongoing management, with initial symptoms usually appearing in early childhood. Many countries in Europe routinely screen newborns for SCD as part of the newborn blood spot test ('heel prick test').

People living with SCD experience episodes of severe pain called sickle cell crises (SCC), which can last for up to a week and may require hospitalisation. SCD can also cause anaemia, which can lead to fatigue and shortness of breath, and in severe cases may require an emergency blood transfusion. People with SCD are also more susceptible to serious infections. SCD can also cause other health issues, such as delayed growth or onset of puberty, lung problems, and stroke.

Sickle cell disease is usually managed with medication. It can be treated by blood stem cell transplant to replace the faulty blood-producing cells with healthy donor cells. You can read more about blood stem cell transplants here.

Beta-thalassaemia

Beta-thalassaemias (also caled β-thalassaemias) are a group of blood disorders which result from the abnormal formation of haemoglobin. This is the molecule in red blood cells which transports oxygen. This can result in anaemia, fragile bones, and delayed growth.

There are three main forms of beta-thalassaemia. Beta-thalassaemia major is the most severe form. Symptoms such as severe anaemia, delayed growth, and abnormal skeletal development typically appear within the first two years of life. Beta-thalassaemia intermedia present symptoms later in life. The most common and serious symptom is mild to moderate anaemia. Beta-thalassaemia minor presents as mild anaemia, or may even be asymptomatic.

People with severe beta-thalassaemia may require regular blood transfusions. These transfusions, or the conditions itself, can result in an excess of iron in the blood, leading to heart, liver and hormonal complications. These complications can be serious and even fatal, and severe beta-thalassaemia must be managed by a multi-disciplinary healthcare team.

Beta-thalassaemia is usually managed with blood transfusions and medication. It can be treated by cell therapy (blood stem cell transplant) or by hybrid gene-cell therapy. You can read more about blood stem cell transplants here.

Other blood disorders

Other genetic or acquired blood disorders, such as haemoglobinopathies (diseases affecting haemoglobin, the oxygen-carrying molecule in blood), cytopenia (a decrease in the number of mature blood cells),or haemophagocytic lymphohistiocytosis (a condition where certain white blood cells attack other kinds of blood cells), may be treated by blood stem cell transplant to replace the faulty blood-producing cells with healthy donor cells. You can read more about blood stem cell transplants here.

Cancers

Melanoma

Melanomas are a common type of skin cancer. They are thought to be caused by exposure to ultraviolet (UV) light from the sun, particularly exposure to unusually intense sunlight (for example, going on holidays to a sunnier region, or spending more time than usual outside in the summer).

Melanomas are typically removed by surgery. If surgery is not appropriate, later-stage melanomas are treated with drugs called BRAF inhibitors. These drugs work by targeting a protein which supports uncontrolled division of cancerous cells.

If a melanoma grows downwards into deeper skin tissues, there is a risk it can spread to other parts of the body and grow cancerous tissue there (metastasise). Depending on the region the cancer has spread to, this may be treated by a gene therapy (Imlygic, authorised by the EMA for use in Europe in 2015) which attacks cancerous cells while stimulating the body’s immune system to recognise and destroy cancerous cells.

Neurological disorders

Cerebral adrenoleukodystrophy

Cerebral adrenoleukodystrophy (CALD) is a genetic condition in which the body is unable to break down fatty substances called very-long-chain fatty acids (VLCFAs). As a result, these VLCFAs accumulate in the brain, nervous system and adrenal gland. This build-up is thought to cause inflammation. This inflammation damages the insulating outer layer of nerve cells (the myelin sheath), causing it to break down.

The neurological symptoms of CALD include learning difficulties, vision loss and deafness, and seizures. People with CALD may also experience difficulties with swallowing, and with coordinating their movements and balance. The damage to the adrenal gland means that some people with CALD produce low of certain steroid hormones (cortisol and aldosterone). These individuals may be at risk of an adrenal crisis, caused by a sudden drop in cortisol levels. These crises can cause dizziness, nausea, and loss of consciousness, and can be fatal if untreated.

CALD has traditionally been treated with medication and physical therapy to prevent the progression of symptoms. Blood stem cell transplants may also be conducted when a suitable donor can be found. You can read our factsheet about blood stem cell transplants here. When a suitable donor cannot be found, patients may be offered a hybrid gene-cell therapy (Skysona, authorised by the EMA for use in Europe in 2021) where the patient’s own cells are collected, modified in the lab to break down the build-up of VLCFAs, and re-infused into their body.

Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) is a genetic condition in which fatty molecules called sulfatides cannot be broken down. These sulfatides build up in cells, and particularly in the brain, spinal cord and peripheral nerves. This build-up is toxic, and damages the body’s ability to produce an insulating layer (myelin sheath) for nerve cells in the brain, spine, and throughout the body.

There are three forms of MLD: late infantile, which manifests before two years of age and is the most common form; juvenile form, which develops between the ages of three and 16; and the adult form, which appears after the age of sixteen and is the least common form. The initial signs and symptoms, and the rate of progress, vary with the age at which the condition first appears.

People with MLD can develop sensory issues, such as blindness, impaired hearing, or loss of the ability to detect sensations such as touch, pain, or heat. They often develop mobility issues, such as difficulty walking or coordinating movement, or experience stiffness and rigidity or paralysis, as well as difficulty speaking or swallowing. Cognitive and psychological issues include loss of memory skills, reduced comprehension and emotional instability or personality changes. Seizures and psychosis are also common in MLD.

Treatment options for MLD depend on the stage at which it is recognised and diagnosed. In most cases, treatment is supportive, with a multidisciplinary team helping to manage symptoms. In asymptomatic or minimally-symptomatic cases, a blood stem cell transplant may be performed to slow down the progression of symptoms. You can read our factsheet about blood stem cell transplants here. When a suitable donor cannot be found, patients may be offered a hybrid gene-cell therapy (Libmeldy, authorised by the EMA for use in Europe in 2020) where the patient’s own blood stem cells are collected, modified in the lab to break down sulfatides and re-infused into their body.

Multiple sclerosis

Multiple sclerosis is a neurodegenerative disorder in which an individual’s immune system targets the insulating layer of nerve cells in the brain and spinal cord. This results in impaired signalling the nervous system, and may cause physical and cognitive symptoms. You can read our fact sheet about multiple sclerosis here.

Multiple sclerosis can be treated with a blood stem cell transplant to replace the faulty immune cells, similar to other immune-mediated disorders. This stops the immune system damaging the central nervous system, although it does not reverse this damage. This is currently the only clinically validated treatment available in Europe. You can read our factsheet about blood stem cell transplants here.

Spinal muscular atrophy

Spinal muscular atrophy is a genetic neuromuscular disorder. It causes the death of motor neurons (the nerve cells which carry signals from the central nervous system to muscles, causing movement) and progressive muscle wasting. There are five subtypes of SMA (SMA 0-5), based on when symptoms first appear, and which symptoms are present. Infants with SMA Type 0/1 usually do not reach the age of four if a suitable treatment cannot be found, while individuals with SMA Type 4 (adult-onset SMA) have a normal life expectancy.

The symptoms most commonly seen in severe SMA include overall muscle weakness and ‘floppiness’, difficulty feeding and swallowing, and respiratory issues. Infants may have difficulty reaching developmental milestones such as rolling, sitting, or standing; in some cases, a baby or child will lose a skill they had already mastered, such as sitting unassisted.

Traditional treatment has SMA has focused managing symptoms and discomfort through physiotherapy and occupational therapy. Spinal fusion may be performed to relieve pressure on the lungs, and ventilation may be used to assist with breathing. In Europe, children under twenty-four months may be eligible for a gene therapy (Zolgensma, authorised by the EMA for use in Europe in 2020) which provides a functional copy of the mutated gene causing the condition, and restoring nerve function.

Some private clinics offer blood stem cell transplants as a treatment for SMA; however, there is no scientific or clinical evidence indicating that this is an effective approach.

Immune-related conditions

Crohn’s disease

Crohn’s disease is a chronic condition characterised by inflammation of a region of the digestive system. Symptoms include stomach cramps and pain, diarrhoea or bloody stools, and rapid weight loss (or, in childhood presentations, failure to thrive). Some patients with Crohn’s diseases may develop anal fistulas – abnormal passages between the gut and the skin of the anus. ‘Complex’ fistulas are those which have several openings or passages, extending deep within the body, or which have other complications such as abscesses or aggregations of pus.

Crohn’s disease is typically managed with anti-inflammatory medication, or by surgery to remove a small section of the gut. When these interventions are not successful, patients may receive cell therapy, in the form of donated cells, to reduce inflammation and promote growth of new tissue.

Sensory Conditions

Retinal dystrophy

Retinal dystrophy is the name given to a group of genetic conditions which cause damage to the retina – the light-sensing membrane at the back of the eye. Light-sensing cells are damaged, meaning that visual information is not sent to the brain. These conditions often progress over time, leading to a progressive loss of vision.

Gene therapy can be used to treat two specific retinal dystrophies – retinitis pigmentosa and Leber’s congenital amaurosis. This gene therapy (Luxturna, authorised by the EMA for use in Europe in 2015) can only be used when there are a suitable number of healthy cells remaining in the retina, and when the mutation causing the disorder is in a specific gene (RPE65).

You can read our factsheet about conditions affecting the eye here.

Other conditions

Gene- and cell-based therapies also have applications in regenerative medicine. These therapies can be used to address acquired damage, such as damage caused by long-term illness, natural ‘wear and tear’, or injury. While much research is being conducted into the use of regenerative therapies to halt or reverse the effects of such damage, only two applications are currently approved for use within the European Union.

Corneal repair. Combined gene and cell therapy (Holoclar, authorised by the EMA for use in Europe in 2015) can be used to treat severe damage to the cornea, such as a chemical burn. The cells which replenish the cornea (limbal stem cells) are collected from a patient, then genetically altered in the lab to repair the damaged tissue. These genetically modified cells are grown in large numbers and then re-implanted into the damaged eye. You can read about this therapy here.

Cartilage repair. Cell therapy (Spherox, authorised by the EMA for use in Europe in 2017) can be used to treat damage to the cartilage of the knee joint. Chondrocytes – the cells which produce the building components of cartilage – are collected from the patient’s knee cartilage. In the lab, these chondrocytes are grown into spherical clusters (spheroids). These spheroids are inserted into defects in the knee joint, adhering to the cartilage and promoting the growth of new, healthy cartilage. This therapy only works for defects under a certain size.

Current and potential uses image header

Complete list of therapies authorised in Europe

Here you will find a complete list of gene and cell therapies authorised for clinical use in Europe, and the condition they are licensed to treat. Please be aware that some therapies may not yet be available through your national healthcare provider.

This list is reviewed for accuracy on a regular basis, and was last reviewed on 27.05.2022.

Why is there not yet a therapy for my condition?

Understanding the causes of a disorder is the first step towards developing a therapy. Identifying the genetic or cellular cause of a disorder can take years of research. This can take even longer if the condition is rare.

The development of new therapies is a lengthy process. In typically takes seven years for a clinical trial to be completed – and this is after the basic science and pre-clinical work has already been conducted. Again, this process is longer is a condition is rare; larger studies numbers allow for a better understanding of the safety, efficacy and side-effects of a therapy, and if fewer people are living with a condition it can take longer to find enough volunteer participants.

Certain types of disorders are easier to treat for physiological reasons. Developing a therapy may take longer depending on the region of the body affected, as researchers must also investigate an appropriate delivery mechanism.

You can find information about ongoing research in gene and cell therapy in our condition-specific factsheets.

Therapy Type

No. Products – EMA Approved

Advanced Therapy Name(s), Manufacturer(s)

Population

Cell Therapy

2

  • Alofisel, Takeda
  • Spherox, CO.DON.AG
  • Adults
  • Adults

Tissue Therapy

1

  • Holoclar, Holostem
  • All Ages

Gene Therapy

4

  • Imlygic, Amgen
  • Luxturna, Novartis
  • Zolgensma, Novartis
  • Skysona, Bluebird Bio
  • Adults
  • All Ages
  • Children
  • Children

Cell-Gene Therapy *CART-T

4

  • Kymriah, Novartis
  • Yescarta, Kite
  • Tecartus, Kite Pharma / Gilead
  • Abecma, Bristol Myers Squibb
  • <25 Yr.
  • Adults
  • Adults
  • Adults

Cell-Gene Therapy *HSCT

3

  • Strimvelis, Orchard / GSK
  • Zynteglo, Bluebird Bio
  • Libmeldy, Orchard Therapeutics
  • Children
  • >12 Yrs.
  • Children

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