dm+d

Unassigned

New Medicines

Fabry's disease

Information

Licence extension / variation
Sanofi Genzyme
Sanofi Genzyme

Development and Regulatory status

None
Phase II Clinical Trials
Phase II Clinical Trials

Category

A glucosylceramide synthase inhibitor that works by blocking the formation of glucosylceramide (GL-1), a key component in the production of GL-3.
Fabry disease, which affects around 10,000 people around the world, is characterised by excessive accumulation of a fatty substance - glucosylceramide, also known as GL-3 or Gb3 - throughout the body, potentially leading to life threatening renal, cardiac and cerebrovascular events [1].
Fabry's disease
Oral

Late-onset GM2 gangliosidoses, Tay-Sachs / Sandhoff diseases

Information

Licence extension / variation
Sanofi Genzyme
Sanofi Genzyme

Development and Regulatory status

Phase III Clinical Trials
Phase III Clinical Trials
Phase III Clinical Trials

Category

A glucosylceramide synthase inhibitor that works by blocking the formation of glucosylceramide (GL-1), a key component in the production of GL-3; prevents production and accumulation of glycosphingolipids
A variant of Tay-Sachs and Sandhoff diseases, in which deficiency of hexosaminidase enzymes cause excessive accumulation of gangliosides in the brain and nerve cells [1]. Both these diseases are rare in the general population (incidence about 1 in 300,000 newborns) but more common in certain ethnic groups. Epidemiology of the late-onset forms is uncertain as it may be confused with other conditions [4].
Late-onset GM2 gangliosidoses, Tay-Sachs / Sandhoff diseases
Oral

Type 1 and III Gaucher's disease in adults and children aged ≥12 years, in combination with Cerezyme

Information

Licence extension / variation
Sanofi Genzyme
Sanofi Genzyme

Development and Regulatory status

Phase III Clinical Trials
Phase III Clinical Trials
Phase III Clinical Trials
Yes

Category

A glucosylceramide synthase inhibitor that works by blocking the formation of glucosylceramide (GL-1), a key component in the production of GL-3; prevents production and accumulation of glycosphingolipids.
Gaucher disease is a rare, inherited metabolic disorder with an overall frequency of around 1 in 40,000 to 1 in 50,000 live births (all variants) [1,2].
Type 1 and III Gaucher's disease in adults and children aged ≥12 years, in combination with Cerezyme
Oral

Autosomal dominant polycystic kidney disease (ADPKD)

Information

New molecular entity
Sanofi Genzyme
Sanofi Genzyme

Development and Regulatory status

Discontinued
Discontinued
Discontinued
Jun 21Sanofi halts venglustat clinical programme in ADPKD as research indicates that modulating the GSL pathway is insufficient to restore kidney function in adults affected by this disease [7]

Category

Glucosylceramide synthase inhibitor
Autosomal dominant polycystic kidney disease affects as many as 1 in 1,000 individuals. It accounts for about 10% of people on dialysis [1].
Autosomal dominant polycystic kidney disease (ADPKD)
Oral