September 25th is World Ataxia Awareness Day

Ataxia refers to a group of disorders that result in a lack of coordination and muscle control. Ataxias are degenerative conditions of the nervous system. These symptoms are caused by damage to the cerebellum, the part of the brain that is responsible for coordinating movement. 

Ataxias can be divided in hereditary and acquired conditions or the term ataxia is also a symptom of other medical conditions such as head injury, stroke, MS.

Types of hereditary ataxias include:  

• Friedreich ataxia

• Canvas

• Spinocerebellar ataxias

• Episodic ataxias

• Cerebellar ataxia

People affected by ataxia may experience problems with using their fingers and hands, arms, legs, walking, speaking or moving their eyes. Age of symptom-onset can vary widely, from childhood to late-adulthood depending on the type of ataxia.  Some types of ataxias can impact life span.  

Friedreich’s ataxia

·       Friedreich’s ataxia (FA) is a recessive form of ataxia. Recessive means that it affects males and females equally, but both parents must be carriers of the ataxia gene, and each must pass on the ataxia gene to the child for the child to develop the condition.  

·       It is caused by an abnormality of a single gene called the frataxin (FXN) gene.

·       Early symptoms of FA, such as progressive loss of coordination, muscle weakness and fatigue, typically appear in childhood.  

·       Enlargement of the heart, irregular heartbeat or other symptoms of heart trouble (cardiomyopathy) occur in many individuals with FA.

·       Diabetes mellitus is not uncommon.

·       On 12 February 2024 the European Commission approved SKYCLARYS (omaveloxolone) for the treatment of FA in adults and adolescents aged 16 years and older.

·       Following this approval, Biogen are now working with the local governments and reimbursement authorities in each EU country to ensure that eligible European patients can have access to this treatment.

FA research news

Lexeo Therapeutics - LX2006 for the treatment of FA cardiomyopathy 

Lexeo Therapeutics is a pharmaceutical company working on a gene therapy called LX2006 for the treatment of FA Cardiomyopathy.  

People with FA lack a protein called frataxin, which is important for energy production in cells. LX2006 aims to deliver the FXN gene (responsible for making frataxin), to heart cells and the mitochondria cell (responsible for producing energy).

In June 2023, Lexeo completed the first group of their SUNRISE-FA phase 1/2 clinical trial for LX2006 in patients with FA-related heart issues. The therapy was well tolerated, and there were no unexpected problems reported.

On 15 July  2024, Lexeo shared promising early results from their phase 1/2 trial of LX2006. The results showed significant improvements in several key heart health indicators related to heart muscle thickening, a common issue in FA-related heart disease. In previous research, Lexeo found that adults with FA tend to have an enlarged left ventricle in their hearts.

The early data came from 8 participants who had been followed for at least 6 months after receiving LX2006. These participants showed reduced thickening of the heart’s ventricular wall, lower levels of heart disease markers, and, in 3 participants, increased levels of the frataxin protein (which is usually low in people with FA) 12 months after treatment. As of 15 July, 2024, 13 participants have received LX2006 in the two trials. Lexeo plans to share more detailed results towards the end of 2024.