CHARGE Syndrome
The difficulty in creating therapies for CHARGE syndrome comes from its complications that involve multiple body systems and differing genetics. To help tackle the challenges presented in the management of CHARGE syndrome, Protheragen has allocated resources to advanced technologies and specialized personnel dedicated towards developing therapeutic solutions. We will provide complete ancillary services, thus optimizing your journey from drug development to commercialization.
Overview of CHARGE Syndrome
CHARGE syndrome is a multisystem congenital disorder with an estimated prevalence of 1 in 8,500-10,000 live births. The acronym CHARGE summarizes its core clinical features:
- Coloboma
- Heart defects
- Atresia choanae
- Retarded growth/development
- Genital hypoplasia
- Ear abnormalities and deafness
Fig.1 Phenotype of CHARGE syndrome. (Krueger L A, Morris A C., 2022)
Pathogenesis of CHARGE Syndrome
Approximately 65-70% of cases of CHARGE syndrome result from heterozygous mutations in the CHD7 gene, which encodes a chromatin-remodeling protein essential for the migration of neural crest cells during embryonic development. The CHD7 gene mutation results in a form of haploinsufficiency that disrupts the epigenetic regulation of critical developmental pathways. In addition, there is also dysregulation of neuroendocrine systems due to faulty development of the GnRH neurons.
Fig.2 CHD7 expression in ocular morphogenesis and neural crest cell development. (Krueger L A, Morris A C., 2022)
Therapeutic Development for CHARGE Syndrome
| Drug Names | Mechanism of Action | Targets | Research Phase |
| Somatropin | Somatropin is a recombinant human growth hormone that stimulates growth, cell reproduction, and regeneration by mimicking natural growth hormone. | Growth hormone receptor | Approved |
| Testosterone | Testosterone is an androgen hormone that promotes the development and maintenance of male sex characteristics and supports muscle and bone mass, often used in hormone replacement therapy. | Androgen receptor | 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
Specializing in comprehensive solutions for CHARGE syndrome, Protheragen integrates diagnostic development with cutting-edge in vitro diagnostic (IVD) kits for early disease identification. Our therapeutic development pipeline leverages exclusive disease models, such as physiologically representative blood-brain barrier (BBB) models, to expedite the exploration and authentication of central nervous system (CNS) targeted treatments.
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
In Vitro Model Development
- CHD7 Heterozygous Mutant Model: This model is widely used because it mimics many of the CHARGE syndrome phenotypes, including postnatal growth delay, inner ear malformations, anosmia/hyposmia, and craniofacial defects.
- CHD7 Splice Site Mutation Model
To advance the commercialization of novel therapies for CHARGE syndrome, 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 usfor more details and quotation information of related services.
Reference
- Krueger L A, Morris A C. Eyes on CHARGE syndrome: Roles of CHD7 in ocular development[J]. Frontiers in Cell and Developmental Biology, 2022, 10: 994412.