Cri du Chat Syndrome (CdCS)
Cri du Chat syndrome (CdCS) results from a genetic deletion on the short arm of chromosome 5. Utilizing our groundbreaking insights in CdCS, Protheragen is leading the development of novel treatments for its more effective management. As a dependable collaborator in CdCS pharmaceutical innovation, we offer unmatched assistance tailored to your research requirements.
Overview of Cri du Chat Syndrome (CdCS)
Cri du Chat syndrome (CdCS), or 5p- Syndrome is a rare neurodevelopment disorder traced to the terminal or interstitial deletion of the short arm of chromosome five. It has an estimated prevalence of 1 in every 15,000 to 50,000 births. The syndrome gets its name from the high-pitched cry reminiscent of a cat's meow which arises from laryngeal hypoplasia coupled with neurological impairment.
Fig.1 Pathogenesis and clinical findings of Cri du Chat syndrome (CdCS). (Kaler J, Hussain A., 2020)
Pathogenesis of Cri du Chat Syndrome (CdCS)
Cri du Chat syndrome (CdCS) has its main origin in a heterozygous deletion of chromosome 5p (5p15.2 region). This deletion leads to haploinsufficiency of important neurodevelopmental genes like CTNND2 (δ-catenin) and SEMAF. The deficiency of CTNND2 disrupts Wnt signaling and synaptic plasticity while the loss of SEMAF contributes to neural migration abnormalities through a semaphorin-plexin pathway dysfunction. The combination of these molecular alterations results in the profound intellectual disability and neurological signs usually observed in CdCS.
Therapeutic Development for Cri du Chat Syndrome (CdCS)
| Drug Names | Mechanism of Action | Targets | Research Phase |
| Valproate | Valproate increases levels of GABA in the brain by inhibiting its degradation and may modulate sodium channels, stabilizing neuronal activity. | GABA receptors, Sodium channels | Approved |
| Omeprazole | Omeprazole is a proton pump inhibitor that reduces stomach acid production by blocking the hydrogen-potassium ATPase enzyme in the gastric parietal cells. | Proton pump | Approved |
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
At Protheragen, we focus on preclinical research in Cri du Chat syndrome (CdCS), providing comprehensive solutions from biomarker identification to development of CNS targeted therapeutics. Our expertise covers disease modeling, including patient-derived iPSCs, genetically engineered models, and advanced blood-brain barrier (BBB) models for evaluating drug penetration and neuroprotective efficacy. We provide partners with target validation, lead compound optimization, and comprehensive preclinical research services.
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
In Vitro Model Development
- Rat model with a 2q22 deletion that reflects the common genetic variants seen in patients with Cri du Chat syndrome exhibits deficits in social behavior, cognition, and anxiety, as well as neuronal abnormalities and immune dysregulation.
- Other Models
Protheragen is steadfastly dedicated to meticulously validating and optimizing therapies for Cri du Chat syndrome (CdCS) through a thorough series of pharmacodynamics (PD), pharmacokinetics (PK) and toxicology studies. If you are interested in our services, please feel free to contact usfor more details and quotation information of related services.
Reference
- Kaler J, Hussain A. Floppy Baby Syndrome: A Comprehensive Review of the Chromosomal Abnormalities and Gene Mutations[J]. EC Paediatrics, 2020, 9: 01-32.