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What is MPS VI? |
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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 1,100 patients in developed countries
have MPS VI. 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. Unlike MPS
I, MPS VI does not typically affect intelligence level. |
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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 misdiagnosed. Over time the disease
progresses, and depending on the degree of enzyme
deficiency, patients experience severe disabilities
and possibly early death—factors underscoring
the importance of early diagnosis.
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some of the features and symptoms associated
with MPS VI: |
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Short stature |
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Macrocephaly (large head) |
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Progressively coarse facial features |
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Communicating hydrocephalus |
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Spinal cord compression |
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Carpal tunnel syndrome |
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Corneal clouding |
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Impaired vision |
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Recurrent otitis media |
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Impaired hearing |
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Recurrent sinopulmonary infections |
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Upper airway obstruction |
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Sleep apnea |
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Reduced pulmonary function |
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Cardiac abnormalities and valvular disease |
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Hepatosplenomegaly |
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Umbilical and inguinal hernias |
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Reduced joint range of motion |
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Dysostosis mutiplex (bone deformities) |
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Malaise and reduced endurance |
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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 a newly approved therapeutic option specifically for the treatment of MPS VI--enzyme replacement therapy with Naglazyme® (galsulfase).* Naglazyme is designed to replace the human enzyme, arylsulfatase B, that individuals with MPS VI are lacking. Naglazyme is approved in the United States for the treatment of MPS VI; a marketing application is currently pending in the European Union. For a small number of MPS VI patients, bone marrow transplantation (BMT) may be a treatment option; however, its application is frequently limited by the risks associated with the procedure and the difficulty in finding an appropriate donor.
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For additional information about MPS VI, please
visit the following websites and others listed in
the Patient/Physician Resource Library:
www.MPSVI.com
www.MPSsociety.org The National MPS Society (U.S.)
www.MPSsociety.co.uk Society for Mucopolysaccharide Diseases (U.K.)
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Important Safety Information |
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*Naglazyme is indicated for patients with MPS VI. Naglazyme has been
shown to improve walking and stair-climbing capacity.
The most common adverse events observed in clinical trials in Naglazyme-treated patients were headache, fever, arthralgia, vomiting, upper respiratory infections, abdominal pain, diarrhea, ear pain, cough, and otitis media. Severe reactions included angioneurotic edema, hypotension, dyspnea, bronchospasm, respiratory distress, apnea, and urticaria. The most common symptoms of infusion reactions included fever, chills/rigors, headache, rash, and mild to moderate urticaria. Nausea, vomiting, elevated blood pressure, retrosternal pain, abdominal pain, malaise, and joint pain were also reported. No patients discontinued Naglazyme infusions for adverse events and all patients that completed the double-blind portion of the trial continue to receive weekly infusions of Naglazyme. Nearly all patients developed antibodies as a result of treatment, but the level of the immune response did not correlate with the severity of adverse events or impact the improvements experienced in endurance. Because antihistamine use may increase the risk of apneic episodes, evaluation of airway patency should be considered prior to the initiation of treatment. Consideration to delay Naglazyme infusion should be given when treating patients who present with an acute febrile or respiratory illness.
Note: These listings are provided
by BioMarin as additional information for patients,
their families and their healthcare providers. The
web pages and their content are maintained by the
organizations listed above. With the exception of
its own website, BioMarin does not endorse any particular
organization or the content contained on their website. |
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