Mathias Schmidt, PhD, President and Chief Executive Officer of JCR USA, describes their current clinical trials for patients with mucopolysaccharidosis (MPS) I and II.
Mucopolysaccharidoses (MPSs) are a group of rare genetic lysosomal storage diseases, caused by an absence or malfunctioning of enzymes required to break down carbohydrates into proteins and simpler molecules. Over time, these glycosaminoglycans collect in the cells, blood, brain and spinal cord, and connective tissues. The result is permanent, progressive cellular damage that affects the individual’s appearance, physical abilities, organ and system functioning, and, in most cases, mental development. Symptoms may be similar or vary among the different types of the disorder.
MPS I
Also called Hurler syndrome, MPS I symptoms include:
- Skeletal abnormalities
- Cognitive impairment
- Heart disease
- Respiratory problems
- Enlarged liver and spleen
- Characteristic facies
- Reduced life expectancy
MPS II
MPS II occurs almost exclusively in males. Symptoms include:
- Distinctive facial features
- Hydrocephalus
- Enlarged liver and spleen
- Umbilical or inguinal hernia
- Hearing loss
Individuals with this condition may additionally have joint deformities and heart abnormalities involving the valves. There is a wide range in severity of symptoms present in individuals with MPS II.
JR171 to Treat MPS I
A phase 1/2 clinical trial tested the efficacy and safety of JR171 (lepunafusp alfa) used in enzyme replacement therapy for treatment of MPS I. The 52-week study was a first-in-human, open-label, multicenter trial testing 14 patients. Measurements of HS levels in the CSF from baseline were taken at three points throughout the study, evaluating the therapy’s ability to target the neuronopathy. These levels were significantly reduced across all patients, as well as stabilization of neurodevelopmental decline and liver and spleen volumes observed in a significant group. Researchers observed low-risk and well-controlled adverse effects. The company has plans for a phase 3 trial to further establish the safety and efficacy of JR171.
JR141 to Treat MPS II
An ongoing phase 3 clinical trial is testing the efficacy of JR141 (pabinafusp alfa) against the central nervous system and peripheral.somatic symptoms for MPS II. The 24 month study is testing 80 patients within two arms: Cohort A consists of patients aged 2 ½ to 6 years with a neuronopathic phenotype of MPS II and Cohort B consists of patients aged 6 and older exhibiting somatic symptoms. Primary endpoints are based on HS levels in the CSF and neurocognitive test results. Liver and spleen volumes and other neurological outcomes are also being measured.
For more information on the JR141 study in MPS II, visit https://starlightstudy.com/
For more information on MPS and other rare genetic disorders, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/