Morquio B Syndrome (MPSIVB)
Morquio B Syndrome, also known as Mucopolysaccharidosis type IVB (MPSIVB), is a rare LSD with autosomal recessive inheritance.
MPSIVB is an autosomal recessive disorder caused by a mutation in GLB1 gene like GM1 Gangliosidosis but resulted from the accumulation of keratan sulfate.
Unlike GM1 Gangliosidosis mainly affecting the CNS, MPSIVB has a wide spectrum of symptoms throughout the whole body, especially on the skeletal system as keratan sulfate accumulates in bones and organs.
Rare Genetic Disease
LSD
mutation in GLB1 gene
1:250,000
live birth prevalence
Skeletal Dysplasia
No Treatment
IV-ERT
First-in-Class
Clinical diagnosis is possible for the patients with MPSIVB through physical examination due to its external features, and a high concentration of keratan sulfate is observed in the urine.
Patients with MPSIVB have normal intelligence but show characteristic skeletal dysplasia at the early stage. Patients and their families live rest of their lives in pain due to various complications such as vision and hearing impairments, enlarged organ, dislocation, and respiratory failure.
Even though the patients’ intelligence is intact, MPSIVB affects throughout the body impairing quality of life of the patients due to the significant deterioration of the functions essential to maintain daily lives. Thus, the patients need thorough support and care.
The incidence of MPSIVB is estimated to be 1 in 250,000 live births. However, we believe the actual prevalence is higher as patients classified to have mild GM1 Gangliosidosis are often to be diagnosed as MPSIVB finally.
As there is no effective treatment for MPSIVB, patients are relying on symptomatic treatment to relieve symptoms.
Novel Pharma is developing a treatment for MPSIVB by applying intravenous (IV) administration. As MPSIVB is caused by a defect in the same GLB1 gene as GM1 Gangliosidosis, synergy with the treatment for GM1 Gangliosidosis currently under development is expected.