Smith-Magenis Syndrome (SMS)

Smith-Magenis syndrome (SMS) is a rare neurodevelopmental disorder caused by haploinsufficiency of the RAI1 gene. Protheragen is committed to providing cutting-edge diagnostic and therapeutic development solutions to address the challenges of SMS management. As your reliable partner in SMS therapeutic research, we provide comprehensive and high-quality services to meet all your scientific research needs.

Overview of Smith-Magenis Syndrome (SMS)

Smith-Magenis syndrome (SMS) is a rare neurodevelopmental disorder that results from the partial loss of the RAI1 gene, associated with a 17p11.2 deletion in 90% of cases, while pathogenic variants of RAI1 account for the remaining 10%. Its prevalence is estimated to be around 1 in 15,000-25,000 live births and is associated with intellectual disability, profound behavioral issues, disrupted sleep-wake cycles, and rhythm disturbance.

Fig.1 Mechanisms involved in circadian rhythm problems in Smith-Magenis syndrome (SMS). (Poisson A, et al., 2019)

Pathogenesis of Smith-Magenis Syndrome (SMS)

The main cause of Smith-Magenis syndrome (SMS) is haploinsufficiency of the RAI1 gene which results from 17p11.2 chromosomal deletions in 90% of the cases and pathogenic RAI1 variants in the other 10%. This disruption interferes with the control of circadian rhythms, causes disrupted melatonin release, and affects neuron development resulting in self-injurious behaviors and intellectual disability. It also affects peripheral sensory pathways which leads to a blunted pain response.

Therapeutic Development for Smith-Magenis Syndrome (SMS)

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

As a preclinical research service provider for Smith-Magenis syndrome (SMS), Protheragen provides end-to-end diagnostic and therapeutic development solutions. We excel in building physiologically relevant models, including in vitro models, animal models, and specialized blood-brain barrier (BBB) models, to enable comprehensive biomarker discovery, target validation, and CNS drug efficacy optimization.

Therapeutic Development Services

By Molecule Types

• Small Molecule Drug Development
• Cell Therapy Development
• Antioxidant Development

• Therapeutic Antibody Development
• Therapeutic Peptide Development
• Therapeutic Protein Development

By Mechanism of Action

• Neuroprotective Agent Development
• Glutamate Modulator Development
• Anti-neuroinflammatory Drug Development
• Antioxidant Development

• Mitochondria-targeted Drug Development
• Protein Misfolding Inhibitor Development
• Protein Aggregation Inhibitor Development
• Excitotoxicity Inhibitor Development

Disease Model Development Services

In Vitro Model Development

• Patient-Derived Cell Model
• Neuronal Cell Model
• Glial Cell Model
• Co-Culture Model
• Brain Organoid
• Spinal Cord Organoid

Microfluidic Model Development

• Neurovascular Unit (NVU) Model
• Axon Degeneration Model
• Neuroinflammation Model
• Neuromuscular Junction (NMJ) Model
• Synaptic Plasticity Model
• Organoid-on-a-Chip Model

Animal Model Development

• Df(11)17 Mouse Models
• Df(11)17-1 Mouse Models
• Df(11)17-2 and -3 Mouse Models
• Rai1-targeted Disruption Mouse Models
• Dp(11)17 Mouse Models
• Other Models

To advance the commercialization of novel therapies for Smith-Magenis syndrome (SMS), Protheragen provides comprehensive preclinical research services, covering pharmacodynamics (PD), pharmacokinetics (PK), and toxicology studies. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

Reference

1. Poisson A, Nicolas A, Bousquet I, et al. Smith-Magenis syndrome: molecular basis of a genetic-driven melatonin circadian secretion disorder[J]. International Journal of Molecular Sciences, 2019, 20(14): 3533.

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