Danon Disease
Danon disease is an X-linked multinational disorder characterized by a triad of features which are hypertrophic cardiomyopathy, weakness of skeletal muscles, and mental retardation. Protheragen, as a research services company, focuses on pharmaceutical research and development for Danon disease and other rare cardiovascular diseases. We aim to make the research process easier for the clients so they can devote their focus to developing new therapies.
Overview of Danon Disease
Danon disease is a multi-system disorder primarily affecting the heart, skeletal muscles, and retina which is accompanied by some cognitive impairment. Males are usually more affected than females. Males usually present with childhood-onset concentric hypertrophic cardiomyopathy which is progressive and frequently leads to the need for a heart transplant.
Fig.1 Research history of Danon disease. (Zhai, Y., et al., 2023)Pathogenesis of Danon Disease
Remarkably, more than one hundred mutations within lysosome-associated membrane protein-2 (LAMP-2) are linked to DD, largely being nonfunctional mutations of this gene, such as frameshift, nonsense, and splicing mutations. Deficiency in LAMP-2 results in the disruption of autophagy which leads to lysosomal fusion to autophagosomes and lysosomes' biogenesis being impaired. The failure to eliminate old mitochondria (mitophagy) results in dysfunctional mitochondria, energy deficit, and oxidative stress.
Fig.2 Potential mechanism of Danon disease. (Zhai, Y., et al., 2023)Therapeutics Development for Danon Disease
| Drug Names | Mechanism of Action | Targets | NCT Number | Research Phase |
|---|---|---|---|---|
| RP-A501 | Result in a sustained expression of LAMP-2B protein. | LAMP-2B | NCT06092034 | Phase II |
| mTOR inhibition | Moderately correct the primary metabolic disturbances like autophagic flux. | mTOR | / | Preclinical |
| Ramipril | Reduce left ventricular hypertrophy and maintain the systolic function. | ACE | / | Preclinical |
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
Alongside offering diagnostics, therapeutics, and disease model development services for rare cardiovascular diseases, we conduct pharmacokinetic studies and preclinical safety assessments to support the entirety of our client's research. Recognizing the intricacies of rare cardiovascular diseases, we tailor our services to assist researchers and pharmaceutical companies tackle their toughest issues.
Therapeutic Development Services
Animal Model Development for Danon Disease
Disease models pose a great utility in understanding disease pathogenesis. Our firm offers custom animal model development services tailored to meet the requirements of Danon disease preclinical drug research and development.
Utilize gene editing technologies to create LAMP-2 deficient animal models to better understand the pathophysiology of Danon disease and test prospective therapy interventions.
At Protheragen, we focus on shortening the gap between discovery and therapy application. Partnering with us gives you access to sophisticated technologies and a dedicated team of experts working on improving the comprehension and therapy of rare cardiovascular diseases such as Danon disease. If you have any inquiries about our services, please reach out to us.
Reference
- Zhai, Yafei et al. "Clinical features of Danon disease and insights gained from LAMP-2 deficiency models." Trends in cardiovascular medicine 33.2 (2023): 81-89.
For research use only, not for clinical use.