Mucopolysaccharide storage disease type II (Hunter syndrome)
About
MPS type II is caused by a mutation in the IDS gene that causes iduronate-2-sulfatase deficiency and is X-linked recessive inheritance. The severe type has mental retardation and the mild type has normal mental intelligence. Core dilemmas: ① Enzyme replacement therapy cannot cross the blood-brain barrier and is ineffective on severe types of nervous system;② There is currently no treatment that effectively prevents nervous system progression;③ERT can improve non-nervous system symptoms.
Features & Symptoms
- IDS gene mutation
- Iduronate-2-sulfatase deficiency
- X-linked recessive hereditary
- Severe type with mental retardation
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| Idursulfase | Recombinant iduronate-2-sulfatase, given intravenously once a week, improves non-neurological symptoms. | FDA批准 | $400K - $800K/年 |
| Idursulfase-α | A new generation of recombinant enzymes has higher enzyme activity. | FDA批准 | $450K - $900K/年 |
| IT enzyme substitution (intrathecal administration) | Intrathecally administered enzyme replacement therapy in an attempt to improve neurological symptoms is currently in clinical trials. | Phase II/III | $500K - $1M/年 |
Prognosis
Severe untreated patients die at the age of 10-15, and ERT can extend life expectancy
Additional Notes
Notes: Neurological assessment: About two-thirds of patients with Hunter syndrome have nervous system involvement (cognitive degradation) and require regular assessment of cognitive function;ERT management: weekly intravenous infusion of Idursulfase can improve physical symptoms but cannot cross the blood-brain barrier; Multidisciplinary management: requires collaboration from orthopedics (skeletal malformation), cardiology (valvular disease), and respiratory medicine (airway stricture); Hernia surgery: Inguinal hernia is common and requires elective surgery after cardiovascular assessment; Behavioral management: Behavioral problems and sleep disorders are common and require behavioral intervention and medication. 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: FDA approval. Prognosis: Severe untreated patients die at the age of 10-15. ERT can extend life expectancy.
Frequently Asked Questions
What is Mucopolysaccharide storage disease type II (Hunter syndrome)?
MPS type II is caused by a mutation in the IDS gene that causes iduronate-2-sulfatase deficiency and is X-linked recessive inheritance. The severe type has mental retardation and the mild type has normal mental intelligence. Core dilemmas: ① Enzyme replacement therapy cannot cross the blood-brain barrier and is ineffective on severe types of nervous system;② There is currently no treatment that effectively prevents nervous system progression;③ERT can improve non-nervous system symptoms.
What are the symptoms of Mucopolysaccharide storage disease type II (Hunter syndrome)?
IDS gene mutation,Iduronate-2-sulfatase deficiency,X-linked recessive hereditary,Severe type with mental retardation
How is Mucopolysaccharide storage disease type II (Hunter syndrome) treated?
Idursulfase: Recombinant iduronate-2-sulfatase, given intravenously once a week, improves non-neurological symptoms.; Idursulfase-α: A new generation of recombinant enzymes has higher enzyme activity.; IT enzyme substitution (intrathecal administration): Intrathecally administered enzyme replacement therapy in an attempt to improve neurological symptoms is currently in clinical trials.
What is the prognosis for Mucopolysaccharide storage disease type II (Hunter syndrome)?
Severe untreated patients die at the age of 10-15, and ERT can extend life expectancy