Mucopolysaccharidosis
Mucopolysaccharidosis is a group of inherited metabolic disorders due to the deficiency or malfunction of enzymes responsible for breaking down glycosaminoglycans (GAGs). Our company takes pride in being a leading provider of comprehensive and specialized services in the field of rare diseases. We offer unparalleled advantages to researchers and scientists working in this domain through our unique one-stop services.
Overview of Mucopolysaccharidosis
Mucopolysaccharidosis leads to the accumulation of GAGs in various organ systems, impacting skeletal structure, connective tissues, central nervous system, heart, and respiratory functions. The severity and manifestation of symptoms are contingent upon the specific type and subtype of mucopolysaccharidosis, with seven recognized types and 13 subtypes existing. Mucopolysaccharidosis is primarily inherited in an autosomal recessive manner, and type 1 mucopolysaccharidosis is the most common form and affects between 0.69 and 1.66 newborns per 100,000.
Fig.1 Facial deformities of adult mucopolysaccharidosis. (Michaud, M., et al., 2020)Pathogenesis of Mucopolysaccharidosis
Mucopolysaccharidosis primarily results from genetic mutations that impede the proper production or functioning of lysosomal enzymes crucial for catalyzing GAG breakdown. In individuals affected by mucopolysaccharidosis, the defective enzymes engender the buildup of GAGs within lysosomes, gradually compromising tissue and organ integrity. Recognizable by dysmorphic facial features like a flattened visage, sunken nasal bridge, thick lips, and an enlarged mouth, individuals with mucopolysaccharidosis showcase characteristic physical traits reflective of the disorder's impact.
Fig.2 The inflammatory hypothesis in mucopolysaccharidosis. (Costi, S., et al., 2022)Diagnostics Development of Mucopolysaccharidosis
Biochemical Tests
Laboratory tests used for diagnosis include measuring the activity of specific lysosomal enzymes in blood or urine, which can indicate the presence of mucopolysaccharidosis.
Gene Detection
Genetic testing is likewise pivotal in pinpointing specific mutations associated with distinct mucopolysaccharidosis types, aiding in tailored management and therapeutic strategies.
Therapeutics Development of Mucopolysaccharidosis
| Types | Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Enzyme Replacement Therapy (ERT) | Aldurazyme® | Help break down accumulated GAGs | GAGs | Approved |
| Elaprase® | Help break down accumulated GAGs | GAGs | Approved | |
| Cell Therapy | Hematopoietic Stem Cell Transplantation (HSCT) | These stem cells can produce functional enzymes and help reduce GAG accumulation | / | Clinical trials |
| Gene Therapy | AAV8G9-opt-IDUA | Adeno-associated virus IDUA gene addition strategy to target the corneal stroma | IDUA | Preclinical research |
| Substrate Deprivation Therapy | Rhodamine B | Inhibit the GAG synthesis | GAGs | Preclinical research |
| Genistein | A chemical inhibitor of GAG synthesis | GAGs | Preclinical research |
Our Services
Our multidisciplinary team of experts with in-depth knowledge and extensive experience in rare diseases. Through our company's animal models and therapeutic development platform, we offer these integrated services to accelerate scientific advancements in the understanding, diagnosis, and therapy of mucopolysaccharidosis.
Therapy Development Platforms
Animal Models of Mucopolysaccharidosis
Animal models play a crucial role in understanding the pathogenesis of diseases like mucopolysaccharidosis and developing potential therapies. Our company provides various animal models for you to test potential therapies, and evaluate the efficacy of different therapy approaches.
Genetic engineering has been instrumental in creating animal models of mucopolysaccharidosis by introducing specific genetic mutations that mimic the human condition.
| Type of Mucopolysaccharidosis | Optional Models |
|---|---|
| Mucopolysaccharidosis I | Iduatm1Clk model; Iduaem1Osp model, etc. |
| Mucopolysaccharidosis II | Idstm1Muen model; Idsem1Ryma model, etc. |
| Mucopolysaccharidosis III | Sgshmps3a model; Naglutm1Efn model, etc. |
| Mucopolysaccharidosis IV | Galnstm1Toma model; Galnstm2(GALNS)Toma model, etc. |
| Mucopolysaccharidosis VI | Arsbm1J model; Arsbem1Smoc model, etc. |
| Mucopolysaccharidosis VII | Gusbmps model; Gusbtm4Sly model; Tg(GUSB)4Sly model, etc. |
| Mucopolysaccharidosis IX | Hyal1tm1Stn model; Hyal1em2Smoc model, etc. |
Why Choose Us
In our commitment to excellence and innovation, we offer services such as pharmacokinetic studies and drug safety evaluations to support research initiatives and drive progress in the field.
If you are seeking reliable support and cutting-edge resources for your research endeavors, we invite you to engage with our team and explore the possibilities for collaboration. Contact us today to learn more about our services and how we can empower your research goals.
References
- Michaud, M et al. "Mucopolysaccharidosis: A review." La Revue de medecine interne 41.3 (2020): 180-188.
- Costi, Stefania et al. "Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know." Diagnostics (Basel, Switzerland) 13.1 (2022): 75.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.