Over 10,000 rare diseases have been identified globally, a large majority of which are genetic in origin. But despite the scope of rare diseases, treatment can still be difficult to come by. 95% of rare diseases have no available or targeted therapies. India is no different, shares an article in The New India Express. Over 500 rare diseases have been identified—but there is little in the way of therapeutic intervention.

However, this may soon change. The same article reports that Sanofi Specialty Care recently received approval to bring two rare disease therapies to the country: Xenpozyme, which treats acid sphingomyelinase deficiency (ASMD), and Nexviazyme, which treats Pompe disease. 

Regulatory approvals are still needed to market the drugs within India and get them into the hands of those who need them. However, they should be available for use by the end of this year or early 2024. 

Sanofi Specialty Care hopes to reduce some of the burdens associated—such as finances and access to care—by allowing patients in need to receive the treatments for free through the Rare Humanitarian Program and India Charitable Access Program.

About Acid Sphingomyelinase Deficiency (ASMD)

Also known as Niemann-Pick disease types A and B, acid spingomyelinase deficiency (ASMD) is a rare, progressive, and potentially life-threatening genetic disorder. Normally, your SMPD1 gene encodes for the production of acid sphingomyelinase. This enzyme breaks down a fatty substance called sphingomyelin. When the gene becomes mutated, however, the body cannot produce enough acid sphingomyelinase. Sphingomyelin begins building up in cells to a toxic level, causing damage. 

ASMD presents somewhat like a spectrum. One end of the spectrum is characterized by symptoms that appear in infancy and may cause death by early childhood; the other end is milder, with many people living into adulthood. While those affected may experience some of the following symptoms, it is important to note that not every child will present the same way. This is also not an exhaustive list of symptoms:

• Failure to thrive
• Thrombocytopenia (low platelet counts)
• Enlarged spleen and liver 
• Abdominal ascites (fluid accumulation) 
• Jaundice (yellowing of the skin, eyes, and mucous membranes) 
• Irritability
• Episodes of prolonged bleeding
• Hypotonia (low muscle tone)
• Recurrent respiratory infections
• Gastrointestinal reflux
• Loss of reflexes
• Feeding difficulties
• Cherry red spots in the eye
• Neurological deterioration 
• Respiratory failure

Xenpozyme was the first FDA-approved treatment for children and adults with ASMD. Doctors may also recommend other therapies to help manage symptoms.