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Ultragenyx Advances Clinical Development of UX003 for the Treatment of Mucopolysaccharidosis Type 7 (MPS 7)

To help us find MPS 7 patients, please complete a survey:

Physician Survey

Diagnostic Lab Survey

Genetic Counselors Survey

For more information on Phase 1/2 clinical trial, please visit:

Clinicaltrials.gov

Signs and Symptoms

The symptoms of MPS 7 include abnormal coarsened facies, hepatosplenomegaly (enlarged spleen and liver), pulmonary disease, cardiovascular complications, joint stiffness, short stature, and progressive skeletal dysplasia known as dysostosis multiplex.  In more severe patients, there may be developmental delay as well.

The clinical course and disease progression of MPS 7 comprises a wide spectrum.  The severe form of MPS 7 can uniquely present at birth with hydrops fetalis (severe generalized edema).  This is a very severe neonatal condition in which the child retains an enormous amount of fluid throughout the body.  Infants with hydrops fetalis rarely survive beyond a few weeks to a few months of age (Neufeld 2001).  At the attenuated end of the spectrum, MPS 7 patients can present as adults with a less severe physical or skeletal disease.

Beyond the infant age, symptoms include increased urinary GAGs and dysostosis multiplex, but with variable onset and severity of other clinical features similar to several other MPS diseases.  Other signs and symptoms include:

● hernias
● difficulty breathing as a result of airway obstruction and restriction leading to sleep apnea and frequent nasopharyngeal and respiratory infections including pneumonia
● heart disease (some degree of murmur or valvular leakage)
● hearing loss
● cataracts
● corneal clouding

Signs and symptoms may vary with each person with a broad range of severity.