Pitt-Rogers-Danks Syndrome (PRDS)
As of now, there are no approved disease modifying therapies for Pitt-Rogers-Danks syndrome (PRDS), and treatment is mostly symptomatic. Protheragen is investing in advanced technologies and specialized personnel aimed at solving the therapeutic puzzles of PRDS. We offer integrated support services that will simplify the entire process from drug candidate development to market launch.
Overview of Pitt-Rogers-Danks Syndrome (PRDS)
Pitt-Rogers-Danks syndrome (PRDS) is more commonly known as Wolf-Hirschhorn syndrome (WHS). This disorder is a rare neurodevelopmental disorder caused by microdeletions on the short arm of chromosome 4 (4p16.3). It affects 1 in 50,000 live births and exhibits symptoms such as profound developmental stagnation, abnormal facial features and intellectual disability.
Fig.1 Localization of the NSD2 variants. (Zanoni P, et al., 2021)
Pathogenesis of Pitt-Rogers-Danks Syndrome (PRDS)
Hemizygous deletions within the 4p16.3 chromosomal region are responsible for the Pitt-Rogers-Danks syndrome (PRDS) with particular focus on NSD2 (a histone methyltransferase important for neurodevelopment) and LETM1 (a mitochondrial calcium regulator) genes. The genetic anomalies cause an epigenetic imbalance uncoupling altered control of neural progenitors, dysfunctional mitochondria, and synaptic dysgenesis which is described in the PRDS patients’ profound neurodevelopmental delays, seizures, and striking craniofacial dysmorphisms.
Therapeutic Development for Pitt-Rogers-Danks Syndrome (PRDS)
| Drug Names | Mechanism of Action | Targets | Research Phase |
| Valproate |
|
GABA receptors, sodium channels, HDAC enzymes | Approved |
| Somatropin |
|
Growth hormone receptor (GHR) | 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
As a leader in Pitt-Rogers-Danks syndrome (PRDS) research, Protheragen offers comprehensive preclinical services to advance PRDS therapeutics from discovery to validation. Our specialized platforms integrate genetic analysis and disease-specific modeling to replicate disease pathology with high fidelity. Using advanced blood-brain barrier (BBB) models, we optimize central nervous system (CNS) drug delivery while evaluating neuroprotection and off-target effects.
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
In Vitro Model Development
- 4p16.3 Deletion Mouse Models: hemizygous deletion of the 4p16.3 chromosomal region to recapitulate core PRDS genetic defects.
- WHSC1 (NSD2) Conditional Knockout Model: Tissue-specific inactivation of the WHSC1 (NSD2) gene to study its epigenetic role.
Protheragen takes great pride in providing integrated preclinical services for Pitt-Rogers-Danks syndrome (PRDS). These services cover all aspects of drug research including pharmacodynamics (PD), pharmacokinetics (PK), and safety. We observe the highest quality and ethics in the execution of all our research services to make certain the outcome is dependable. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Zanoni P, Steindl K, Sengupta D, et al. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype[J]. Genetics in Medicine, 2021, 23(8): 1474-1483.