Focus: TX01
Gaucher Disease
Gaucher disease is a rare genetic disorder that affects multiple organs and presents a wide range of clinical symptoms. To understand the challenges posed by the pathology, it is important to put in perspective both its clinical signs and the biological mechanisms underlying it.
Origin
Gaucher disease is a rare lysosomal disorder linked to mutations in the GBA1 gene, and affecting several organs. It is characterized by an enlargement of the liver and/or spleen, hematological abnormalities, such as low red blood cell counts (anemia) and low platelet (thrombocytopenia), as well as bone damage (osteoporosis).
Understanding the Disease
In some forms, the central nervous system may also be affected. The disease results from a mutation in GBA1 genes, resulting in a deficiency in glucocerebrosidase, the absence of which leads to lipid substrates accumulatuion as lysosomes – particularly glucosylceramide (Gb1) and its derivative glucosylsphingosine (Lyso-Gb1) . This accumulation progressively disruptsmultiple tissues and organ function. Thanks to treatments introduced since the 1990s, patients with type 1 Gaucher disease now have a normal life expectancy and can reach advanced age.
Key Figures About Gaucher Disease
30-40K
patients living with Gaucher disease woldwide
15-20K
are diagnosed
12%
of patients are aged 60 years old and above
x3
The 60+ population is growing three times faster than the overall population
TX01 is the new formulation of an already approved treatment for rare neurological disorders,
such as Niemann-Pick type C and Gaucher diseases. It is designed to improve administration and dosing – particularly for vulnerable patient populations.