Mucopolysaccharide storage disease type I (Hurler syndrome)
About
MPS type I is caused by mutations in the IDUA gene that lead to a deficiency of α-L-iduronidase, and glycosaminoglycans accumulate in a variety of tissues. Hurler syndrome is the most severe type. Core dilemmas: ① Enzyme replacement therapy cannot cross the blood-brain barrier and is ineffective on the nervous system;② Allogeneic transplantation is the only method that can prevent the progress of the nervous system;③ ERT still needs to continue after transplantation to improve bone and heart diseases.
Features & Symptoms
- IDUA gene mutation
- α-L-iduronidase deficiency
- Severe skeletal deformity
- Mental retardation, heart disease
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| allogeneic hematopoietic stem cell transplantation | Transplants before the age of 2 prevent neurological progress and are currently the only treatment that can improve cognitive development. | 临床应用 | $300K - $800K/次 |
| Laronidase | Recombinant alpha-L-iduronidase, given as an intravenous infusion once a week, improves non-neurological symptoms. | FDA批准 | $300K - $600K/年 |
| gene therapy | AAV vectors that deliver normal IDUA genes are currently in clinical trials. | Phase I/II | $1M - $2.5M/次（一次性） |
Prognosis
Untreated patients died before the age of 10, and the median survival time after transplantation was about 20 years
Additional Notes
Notes: Transplant timing: HSCT should be performed before the age of 2 to preserve cognitive function, and transplantation above the age of 2 has limited cognitive improvement;ERT management: ERT is still needed to improve bone and cardiac lesions after transplantation; Cardiac monitoring: Regular cardiac ultrasound and electrocardiogram examinations are needed to evaluate valve lesions and cardiomyopathy; Spinal management: Spinal dysplasia and cervical instability are common, and special attention is needed to cervical protection during anesthesia; Hearing monitoring: Conductivity and sensorineural deafness are common, requiring regular hearing examinations.; 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: Untreated patients died before the age of 10, and the median survival time after transplantation was about 20 years.
Frequently Asked Questions
What is Mucopolysaccharide storage disease type I (Hurler syndrome)?
MPS type I is caused by mutations in the IDUA gene that lead to a deficiency of α-L-iduronidase, and glycosaminoglycans accumulate in a variety of tissues. Hurler syndrome is the most severe type. Core dilemmas: ① Enzyme replacement therapy cannot cross the blood-brain barrier and is ineffective on the nervous system;② Allogeneic transplantation is the only method that can prevent the progress of the nervous system;③ ERT still needs to continue after transplantation to improve bone and heart diseases.
What are the symptoms of Mucopolysaccharide storage disease type I (Hurler syndrome)?
IDUA gene mutation,α-L-iduronidase deficiency,Severe skeletal deformity,Mental retardation, heart disease
How is Mucopolysaccharide storage disease type I (Hurler syndrome) treated?
allogeneic hematopoietic stem cell transplantation: Transplants before the age of 2 prevent neurological progress and are currently the only treatment that can improve cognitive development.; Laronidase: Recombinant alpha-L-iduronidase, given as an intravenous infusion once a week, improves non-neurological symptoms.; gene therapy: AAV vectors that deliver normal IDUA genes are currently in clinical trials.
What is the prognosis for Mucopolysaccharide storage disease type I (Hurler syndrome)?
Untreated patients died before the age of 10, and the median survival time after transplantation was about 20 years