Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A) Overview

Save information for later
Sign Up

Learn About Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A)

View Main Condition: Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome)

What is the definition of Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A)?
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 severe neurological symptoms such as progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIA is caused by genetic changes in the SGSH gene and is inherited in an autosomal recessive manner.
Who are the top Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A) Local Doctors?
Elite in Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A)
Brian W. Bigger
Elite in Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A)
Brian W. Bigger
Edinburgh, SCT, GB 

Brian Bigger practices in Edinburgh, United Kingdom. Mr. Bigger is rated as an Elite expert by MediFind in the treatment of Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A). His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B), and Bone Marrow Transplant.

Elite in Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A)
Frits A. Wijburg
Elite in Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A)
Frits A. Wijburg
Amsterdam, NH, NL 

Frits Wijburg practices in Amsterdam, Netherlands. Wijburg is rated as an Elite expert by MediFind in the treatment of Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A). Their top areas of expertise are Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), Mucopolysaccharidoses (MPS), Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, and Bone Marrow Transplant.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A)
Simon A. Jones
Elite in Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A)
Simon A. Jones
Manchester University NHS FT, 
Manchester, ENG, GB 

Simon Jones practices in Manchester, United Kingdom. Mr. Jones is rated as an Elite expert by MediFind in the treatment of Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A). His top areas of expertise are Cholesteryl Ester Storage Disease, Mucopolysaccharidoses (MPS), Wolman Disease, Lysosomal Acid Lipase Deficiency, and Bone Marrow Transplant.

View All Doctors
What are the latest Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A) Clinical Trials?
A Phase 1, Open-label, Ascending Dose Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Recombinant Human Heparan N-Sulfatase (rhHNS, GC1130A) Via Intracerebroventricular Access Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA)
A Phase 1, Open-label, Ascending Dose Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Recombinant Human Heparan N-Sulfatase (rhHNS, GC1130A) Via Intracerebroventricular Access Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA)
Enrollment Status: Recruiting
Publish Date: August 28, 2025
Intervention Type: Drug
Study Phase: Phase 1

Summary: The purpose of this study is to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of recombinant human heparan N-sulfatase (rhHNS, GC1130A) administered via intracerebroventricular access device in patients with Sanfilippo Syndrome Type A (MPS IIIA).

Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center