Mucopolysaccharide storage disease type IIIA (Sanfilippo A)
About
MPS type III (Sanfilippo syndrome) is mainly manifested in the nervous system, where heparan sulfate accumulates in the nervous system leading to progressive mental degradation. Type A is the most common and severe type. Core dilemmas: ① Enzyme replacement therapy cannot cross the blood-brain barrier;② There is currently no effective treatment to prevent nervous system progression;③ Gene therapy is in early clinical trials.
Features & Symptoms
- SGSH gene mutation
- Heparan sulfate sulfatase deficiency
- Mainly manifested by the nervous system
- Severe mental degeneration
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| Gene therapy (AAV-SGSH) | AAV vectors that deliver normal SGSH genes and are directly injected into the brain are currently in clinical trials. | Phase I/II | $1M - $3M/次（一次性） |
| Enzyme replacement therapy (intrathecal) | Intrathecally administered enzyme replacement therapy in an attempt to improve neurological symptoms is currently in clinical trials. | Phase I/II | $500K - $1M/年 |
| supportive care | Symptomatic and supportive treatment for behavioral symptoms, sleep disorders, epilepsy, etc. | 临床应用 | $50K - $150K/年 |
Prognosis
Died 10-20 years after the onset of the disease, and there is currently no effective treatment
Additional Notes
Notes: Early diagnosis: Developmental regression should be vigilant against MPS III, and behavioral abnormalities and sleep disorders are often the first symptoms; behavioral management: behavioral intervention and drug treatment are needed for hyperactivity, aggressive behavior and sleep disorders; gene therapy clinical trials: There are currently many AAV vector gene therapy clinical trials are being recruited and are potential disease-modifying therapies; epilepsy management: Some patients may develop epilepsy and require standardized anti-epileptic treatment; palliative care: Palliative care is the main focus for terminally advanced patients, focusing on nutritional support and infection prevention.; Exclusive service commitment: The platform will allocate a dedicated medical team to each patient to assist in dismantling and properly deploying the following precautions throughout the process. When cross-state and cross-border diagnosis and treatment projects or drugs are involved, the platform will make overall arrangements for the entire docking; for disabled and semi-disabled patient groups, the platform will provide rush-free alternative solutions (including remote consultation, door-to-door sampling, direct drug delivery in the cold chain, etc.), to ensure that patients can get the same high-quality diagnosis and treatment resources without having to travel in person.; Study Phase: Phase I/II. Prognosis: Death 10-20 years after the onset of the disease. There is currently no effective treatment.
Frequently Asked Questions
What is Mucopolysaccharide storage disease type IIIA (Sanfilippo A)?
MPS type III (Sanfilippo syndrome) is mainly manifested in the nervous system, where heparan sulfate accumulates in the nervous system leading to progressive mental degradation. Type A is the most common and severe type. Core dilemmas: ① Enzyme replacement therapy cannot cross the blood-brain barrier;② There is currently no effective treatment to prevent nervous system progression;③ Gene therapy is in early clinical trials.
What are the symptoms of Mucopolysaccharide storage disease type IIIA (Sanfilippo A)?
SGSH gene mutation,Heparan sulfate sulfatase deficiency,Mainly manifested by the nervous system,Severe mental degeneration
How is Mucopolysaccharide storage disease type IIIA (Sanfilippo A) treated?
Gene therapy (AAV-SGSH): AAV vectors that deliver normal SGSH genes and are directly injected into the brain are currently in clinical trials.; Enzyme replacement therapy (intrathecal): Intrathecally administered enzyme replacement therapy in an attempt to improve neurological symptoms is currently in clinical trials.; supportive care: Symptomatic and supportive treatment for behavioral symptoms, sleep disorders, epilepsy, etc.
What is the prognosis for Mucopolysaccharide storage disease type IIIA (Sanfilippo A)?
Died 10-20 years after the onset of the disease, and there is currently no effective treatment