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MPS VI

What is MPS VI?

MPS VI (mucopolysaccharidosis VI), also known as Maroteaux-Lamy Syndrome, is an inherited lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B), an enzyme normally required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAGs). If the enzyme is not present in sufficient quantities, the normal breakdown of GAGs is incomplete or blocked. The cell is unable to excrete the GAG residues, which then accumulate in the lysosomes of the cell. This accumulation disrupts the cell’s normal functioning and gives rise to the physical manifestations of the disease.

Approximately 1 in 215,000 births are affected with MPS VI, according to the National MPS Society. It is inherited in an autosomal recessive manner, affects males and females equally, and in most cases, both parents of an affected child are asymptomatic carriers of the disease. MPS VI is a clinically heterogeneous disease with a wide variation in the rate of disease progression, the severity of symptoms, and the organ systems affected. MPS VI does not typically affect intelligence level.
    

Signs and Symptoms

While patients with a rapidly progressing clinical presentation of MPS VI are usually diagnosed by one to five years of age, those with the more slowly progressing disease may be challenging to identify or may have been misdiagnosed with another condition. The disease progresses over time, and depending on the degree of enzyme deficiency, patients experience severe disabilities and possibly early death—factors underscoring the importance of early diagnosis.

The following are some of the features and symptoms associated with MPS VI:

  • Short stature
  • Macrocephaly (large head)
  • Progressively coarse facial features
  • Communicating hydrocephalus
  • Spinal cord compression
  • Carpal tunnel syndrome
  • Corneal clouding
  • Impaired vision
  • Recurrent otitis media
  • Impaired hearing
  • Recurrent sinopulmonary infections
  • Upper airway obstruction
  • Sleep apnea
  • Reduced pulmonary function
  • Cardiac abnormalities and valvular disease
  • Hepatosplenomegaly
  • Umbilical and inguinal hernias
  • Reduced joint range of motion
  • Dysostosis mutiplex (bone deformities)
  • Malaise and reduced endurance

Treatment Options for MPS VI

Historically, treatment of MPS VI has been limited primarily to palliative care that addresses the multi-systemic symptoms of the disease. Today, however, there is an approved therapeutic option specifically for the treatment of MPS VI—enzyme replacement therapy with Naglazyme® (galsulfase).

Additional Resources

For additional information about MPS VI, please visit the following websites and others listed in the Patient/Physician Resource Library:

Naglazyme is indicated for patients with mucopolysaccharidosis VI (MPS VI). Naglazyme has been shown to improve walking and stair-climbing capacity.

Important Safety Information

Severe and life-threatening allergic reactions can occur during NAGLAZYME (galsulfase) infusions and up to 24 hours after infusion. Typical signs of an allergic reaction include shock, difficulty breathing, wheezing, swelling of the throat, and low blood pressure. If a severe allergic reaction occurs during infusion, the infusion should be stopped immediately and you should receive medical attention. Contact your doctor or get medical help right away if you develop any severe symptoms after infusion.

In clinical trials, most patients developed antibodies to NAGLAZYME treatment. There was no clear relationship between antibody formation and the safety or effectiveness of NAGLAZYME.
Serious and severe infusion reactions are associated with NAGLAZYME, including hives, chest pain, rash, abdominal pain, difficulty breathing, swelling, fever, and eye irritation. You should receive medication such as antihistamines before NAGLAZYME infusions to reduce the risk of infusion reactions. If an infusion reaction occurs, the infusion should be slowed or stopped and you may be given additional medication.

The most common side effects of NAGLAZYME seen in clinical trials were rash, pain, hives, fever, itching, chills, headache, nausea, vomiting, abdominal pain and difficulty breathing. The most common side effects requiring medical attention are infusion-related effects.

These are not all of the possible side effects with NAGLAZYME. Talk to your doctor if you have any symptoms that bother you or that do not go away.

NAGLAZYME is a prescription medicine. Before treatment with NAGLAZYME, it is important to discuss your medical history with your doctor. Tell your doctor if you are taking any medication and if you are allergic to any medicines. Your doctor will decide if NAGLAZYME is right for you.

If you have questions or would like more information about NAGLAZYME, contact your doctor.
Spinal cord damage may occur due to the natural MPS VI disease process. Signs of spinal cord injury include back pain, loss of bladder and bowel control, numbness, and paralysis. Contact your doctor immediately if you develop any of these symptoms.

To report SUSPECTED ADVERSE REACTIONS contact BioMarin Pharmaceutical Inc. at 1-866-906-6100, or FDA at 1-800-FDA-1088 or go to www.fda.gov/medwatch.

Please see full Prescribing Information

The most common adverse events in patients treated with Naglazyme were headache, fever, joint pain, vomiting, upper respiratory infections, abdominal pain, diarrhea, ear pain, cough, and ear infections. Severe reactions included swollen blood vessels, low blood pressure, difficulty breathing, respiratory distress, stopping breathing, and hives.

The most common symptoms of infusion reactions included fever, chills/shakes, headache, rash, and mild to moderate hives. Nausea, vomiting, elevated blood pressure, chest pain, abdominal pain, malaise, and joint pain were also reported.

No patients discontinued Naglazyme treatment because of reactions. Nearly all patients developed antibodies as a result of the treatment, but the level of immune response did not correlate with the severity of the adverse reaction.

Because antihistamine use may increase the risk of stopping breathing, airways should be checked to ensure they are not blocked or obstructed. Treatment may be delayed if you have a fever or respiratory illness.

To report SUSPECTED ADVERSE REACTIONS, contact BioMarin Pharmaceutical Inc. at 1-866-906-6100, or FDA at 1-800-FDA-1088 or www.fda.gov/medwatch.

Naglazyme is available by prescription only. To learn more, please visit www.naglazyme.com for full prescribing information.

If you have any questions about this information, please talk with your doctor.

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BioMarin

Diseases

Lysosomal Storage Disorders (MPS I, MPS IVA, MPS VI) PKU, LEMS

Products

Vimizim®
Kuvan®
Naglazyme®
Aldurazyme®
Firdapse®

Patient/Physician Support Contact Information

BioMarin RareConnections
Tel: 866.906.6100
Fax: 888.863.3361
E-mail: support@biomarin-rareconnections.com

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