According to a recent news release from biopharmaceutical company Ultragenyx Pharmaceutical Inc. (“Ultragenyx”), the company’s therapy Mepsevii (vestronidase alfa) was approved in Spain for reimbursement. The entire reimbursement process takes approximately 180 days or less. Now, the reimbursement approval will help make the drug more readily available for both pediatric and adult patients with mucopolysaccharidosis VII (MPS VII).

Mepsevii

According to the Mepsevii website, the therapy is:

a recombinant human lysosomal beta glucuronidase.

Since patients with MPS VII have deficient beta glucuronidase levels, Mepsevii works to rebalance and replace this enzyme. Altogether, Mepsevii works to treat non-neurological symptoms in patients with MPS VII. Patients taking Mepvesii should carefully monitor sodium intake, as the therapy is high in sodium. While the therapy is relatively safe and well-tolerated, some severe or life-threatening reactions, such as anaphylaxis, may occur. Additional and more common side effects include:

• Hives
• Skin rash
• Infusion site reactions
• Allergic reactions
• Diarrhea
• Itching

As stated above, the treatment was approved for reimbursement in Spain. This means two things. First, it means that the product is now valid throughout Spain. Additionally, according to IDR Medical, reimbursement approval means that the drug’s pricing depends on:

• Drug alternatives
• How innovative this therapy is
• Disease severity and duration
• Drug utility
• Rationalization of public drug expenditures

Mucopolysaccharidosis VII (MPS VII)

Also known as Sly syndrome, mucopolysaccharidosis VII (MPS VII) is a rare and progressive lysosomal storage disease and inborn error of metabolism. The National Organization of Rare Disorders (NORD) explains that GUSB gene mutations cause MPS VII. Normally, this gene codes for the production of beta-glucuronidase, an enzyme which helps break down glycosaminoglycans (large sugar molecules). When these molecules build up in cells, it causes a variety of health issues throughout the body. MPS VII is inherited in an autosomal recessive pattern, meaning patients must inherit one defective gene from each parent.

In severe MPS VII diagnoses, patients may die before or shortly following birth. These cases are typically characterized by:

• Jaundice (yellowing of the skin and eyes)
• Hydrops fetalis (abnormal fluid accumulation throughout the body)

In milder cases, symptoms often manifest in early childhood. For these patients, life expectancy can be up to 19 or 20 years. Symptoms include:

• Intellectual and developmental delays
• Corneal clouding
• Short stature with an excessively large head
• Multiple bone deformities, such as:
  • A prominent breast bone
  • Flared ribs
  • Joint contractures
  • Club feet
• “Coarse” facial appearance
• Mild scoliosis
• Abnormal spleen and liver enlargement
• Abdominal swelling
• Inguinal or umbilical hernia
• Excessive hairiness
• Enlarged tongue (macroglossia)
• Heart murmur
• Upper respiratory and ear infections
• Hearing loss

Learn more about MPS VII from the National MPS Society.