In a recent news release, rare disease-focused biopharmaceutical company CANbridge Pharmaceuticals Inc. (“CANbridge”) shared that the National Medical Products Administration (NMPA) of China accepted an Investigational New Drug (IND) application for CAN103. Altogether, this enzyme replacement therapy, developed in conjunction with WuXi Biologics (“WuXi”), is meant to treat patients with Gaucher disease types 1 and 3.
What exactly is CAN103? As described above, it is a recombinant human enzyme replacement therapy (ERT) that is currently in preclinical development. ERT is a medical treatment which uses intravenous infusions to replace underlying enzyme deficiencies or absences. For example, other types of ERTs developed for Gaucher disease include Elelyso and Cerezyme.
The CAN103 IND acceptance is also a huge step forward for Chinese patients with Gaucher disease. Nearly 20 years ago, an initial Gaucher disease treatment became available in China. However, to this day, an estimated 90+% of patients find the medicine inaccessible. As a result, there is an immense unmet need that needs to be fulfilled. The IND approval also gives CANbridge the ability to continue on in drug development and eventually conduct clinical trials.
Although rare, Gaucher disease is one of the most common lysosomal storage disorders. GBA gene mutations cause the beta-glucocerebrosidase enzyme to be deficient or totally absent. Normally, this enzymes helps to break down a lipid called glucocerebroside into either ceramide or glucose. However, deficient enzyme levels cause glucocerebroside to build up within cells, causing progressive tissue and organ damage. Because Gaucher disease is inherited in an autosomal recessive manner, patients must receive one defective gene from each parent. Gaucher disease is more common in those of Ashkenazi Jewish descent.
Altogether, there are multiple subtypes of Gaucher disease. In the perinatal lethal form, patients experience heart valve calcification and other complications, some which occur before birth. Symptoms include neurological problems, dry or scaly skin, and excessive swelling.
Next, patients with Gaucher disease type 1 have the most common subtype. In fact, an estimated 90-95% of all patients with Gaucher disease have type 1. Symptoms include:
- Spleen and liver enlargement
- Anemia (low red blood cell count)
- Easy bruising and bleeding
- Shortness of breath
- Bone pain or fracturing
- Lung disease
In patients with Gaucher disease types 2 and 3, the central nervous system (CNS) is often affected. While patients with types 1 and 3 often have a better prognosis, type 2 Gaucher disease is often fatal by age 4, if not earlier. Symptoms, which can develop by 3 months old, include:
- Poor swallowing
- Liver and spleen enlargement
- Eye muscle paralysis
- Strabismus (crossed eyes)
- Frequent respiratory infections
- Thrombocytopenia (low platelet count)
- Involuntary muscle contractions
- Brain damage
Finally, patients with Gaucher disease type 3 also have a potentially life-threatening condition. However, this form progresses slower than type 3. Symptoms include many of those listed above, as well as:
- Impaired coordination
- Bone weakness
- Myoclonic epilepsy
- Brain damage
Learn more about Gaucher disease.