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Condition

Mucopolysaccharidosis Type 3A

Condition 101

What is the definition of Mucopolysaccharidosis Type 3A?

Mucopolysaccharidosis type IIIA (MPS IIIA) is a severe, progressive disorder that affects the central nervous system. In people with MPS IIIA, the body cannot break down a large sugar molecule called heparin sulfate. Signs and symptoms usually begin in early childhood and include sev ...

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What are the alternative names for Mucopolysaccharidosis Type 3A?

  • Mucopoly-saccharidosis type 3A
  • Sanfilippo syndrome A
  • Heparan sulfate sulfatase deficiency
  • MPS IIIA
  • MPS 3A
  • Heparan sulfamidase deficiency
  • MPS3A
  • MPSIIIA
  • Mucopolysaccharidosis type 3A
  • Sanfilippo syndrome type A

What are the current treatments for Mucopolysaccharidosis Type 3A?

Unfortunately, there is currently no cure or standard treatment for people with mucopolysaccharidosis type IIIA (MPS IIIA). Affected people and their families should consult with a medical genetics team for information about the diagnosis, counseling, up-to-date treatment options, and referrals to support groups and organizations. Treatment requires ongoing care with trained pediatric specialists in various medical fields. A consultation with a developmental pediatrician is especially helpful in addressing behavioral concerns and to assist parents and caregivers in establishing a sleep routine.

Currently, drug therapy is not part of the standard of care for MPS IIIA. Medications are used to relieve symptoms (such as anticonvulsants for seizures) and improve quality of life. Sedatives and melatonin have been used to improve the quality of sleep along with establishing a bedtime routine. Specific therapies such as bone marrow transplantation and enzyme replacement therapy (ERT) are currently not options for patients with MPS IIIA. Hematopoietic stem cell transplantation has shown mixed results and an unclear neurocognitive benefit. Recombinant enzymes for the deficiencies in MPS III are available, but trials in ERT have not been favorable in improving prognosis because the enzymes are not able to enter the central nervous system. Changes to the diet do not prevent disease progression, but limiting milk, sugar, and dairy products has helped some people who have excessive mucus.

Clinical Trials

Clinical Trial
Biological
  • Status: Active, not recruiting
  • Study Type: Biological
  • Participants: 20
  • Start Date: December 23, 2019
Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III
Clinical Trial
Drug
  • Status: Active, not recruiting
  • Study Type: Drug
  • Participants: 9
  • Start Date: January 23, 2019
An Open, Single-arm, Multicenter Extension Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients