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?
Dr. William B. Garner
Pediatrics
Dr. William B. Garner
Pediatrics
1501 Madison Ave # A, 
Austin, TX 
 (281.0 mi)
512-635-1505
Languages Spoken:
English, Spanish

William Garner is a Pediatrics provider in Austin, Texas. Dr. Garner and is rated as an Advanced provider by MediFind in the treatment of Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A). His top areas of expertise are Folliculitis, Boils, Carbuncle, and Urinary Tract Infection in Children.

Dr. Poyee P. Tung
Cardiology
Dr. Poyee P. Tung
Cardiology

UT Physicians

8810 Hwy 6, Suite 100, 
Missouri City, TX 
 (275.1 mi)
713-486-1200
Languages Spoken:
English, Cantonese
See accepted insurances
Accepting New Patients

Poyee Tung is a Cardiologist in Missouri City, Texas. Dr. Tung and is rated as an Experienced provider by MediFind in the treatment of Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A). Her top areas of expertise are Familial Dysautonomia, Mitral Valve Regurgitation, Aortic Regurgitation, and Necrosis. Dr. Tung is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn More
Dr. Nicola Brunetti-Pierri
Pediatrics | Medical Genetics
Dr. Nicola Brunetti-Pierri
Pediatrics | Medical Genetics
2 Greenway Plz, Suite 900, 
Houston, TX 
 (289.7 mi)
713-798-1750
Languages Spoken:
English

Nicola Brunetti-Pierri is a Pediatrics specialist and a Medical Genetics provider in Houston, Texas. Dr. Brunetti-Pierri and is rated as an Experienced provider by MediFind in the treatment of Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A). His top areas of expertise are Pyruvate Decarboxylase Deficiency, Crigler-Najjar Syndrome, Rotor Syndrome, and Argininosuccinic Aciduria.

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: December 20, 2024
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 pediatric patients with Sanfilippo Syndrome Type A (MPS IIIA).

Match to trials
Find the right clinical trials for you in under a minute
Get started
A Phase 1/2, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)
A Phase 1/2, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)
Enrollment Status: Recruiting
Publish Date: August 22, 2024
Intervention Type: Drug
Study Phase: Phase 1/Phase 2

Summary: This is a multicenter, open-label, Phase 1/2 study to assess the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and exploratory clinical efficacy of DNL126 in participants with Sanfilippo syndrome Type A (MPS IIIA). The core study period is 25 weeks (approximately 6 months) and is followed by a 72-week (approximately 18 month) open-label extension (OLE). Participants with MPS I...

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