Therapeutic Development Services
Reticular dysgenesis (RD) comes with a wide variety of challenges due to its rarity and seriousness. Protheragen excels in developing more efficient strategies for the diagnosis and treatment of diseases, as well as addressing the challenges associated with effective RD management. As your partner in RD therapeutic research, we make sure to provide comprehensive services tailored to satisfy the needs of every client and every scientific investigation.
Reticular dysgenesis (RD) is a rare and potentially fatal condition of severe combined immunodeficiency (SCID) occurring as a result of mutations in the AK2 gene. These mutations disrupt mitochondrial energy metabolism in hematopoietic stem cells, leading to profound deafness (sensorineural) as well as bone marrow failure (neutropenia, lymphopenia, and anemia), alongside a heightened risk of life-threatening infections during infancy. Hematopoietic stem cell transplantation (HSCT) remains the sole therapeutic option, but issues of graft-versus-host disease (GVHD), donor availability, and limited access highlight the urgent need for new treatments that address this AK2 deficiency.
Fig. 1 AK2 mutations affect mitochondrial ATP production. (Codo, Ana Campos, and Pedro Manoel Mendes Moraes-Vieira., 2020)
The primary cause of reticular dysgenesis (RD) is believed to be caused by mutations in the adenylate kinase 2 (AK2) gene responsible for mitochondrial energy metabolism. These mutations result in impaired mitochondrial function, particularly affecting the development and function of hematopoietic stem cells (HSCs) and immune cells. Consequently, individuals suffering from RD are at even higher risk of severe infections due to their weakened immune system.
Fig. 2 AK2 gene mutations impair hematopoietic stem cell differentiation. (Oshima, Koichi, et al., 2018)
Currently, therapeutics for reticular dysgenesis (RD) relies on allogeneic hematopoietic stem cell transplantation (HSCT), which faces many challenges, including limited donors, high risks, and long-term complications. The lack of curative medical intervention highlights the urgent need for novel therapies, including gene therapy, small molecule drugs, and cell-based approaches.
| Therapy | Type | Targets | Mechanism of Action | Development Stage |
|---|---|---|---|---|
| HSCT | Cell Therapy | Hematopoietic stem cells (HSCs) | Replaces defective HSCs with healthy donor cells | Approved |
| AK2 Gene Therapy | Gene Therapy | AK2 gene | Viral vector delivery of functional AK2 | Preclinical |
| AK2 Activators | Small Molecules | AK2 enzyme | Restores mitochondrial energy metabolism in HSCs | Discovery Phase |
| Nucleoside Analogs | Metabolic Therapy | Nucleotide salvage pathway | Bypasses defective AK2-mediated ATP synthesis | 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.
As a leading research service provider, Protheragen is dedicated to advancing diagnostic and therapeutic solutions for reticular dysgenesis (RD), a rare and severe bone marrow failure disease. Our comprehensive therapeutic development services encompass gene therapy, small molecule drug discovery, and cell therapy. These innovative approaches are meticulously validated and optimized in exacting disease models to expedite the transformation of scientific breakthroughs into commercialization.
Therapeutic Development Services
By deeply understanding the pathogenesis of reticular dysgenesis (RD), Protheragen is focused on developing innovative therapies across multiple molecule types to address the complex challenges in this field.
Our scientists specialize in constructing accurate animal models that replicate the symptoms of reticular dysgenesis (RD). These models serve as vital tools for assessing the efficacy and safety of potential therapeutics.
Protheragen takes great pride in providing integrated preclinical services for reticular dysgenesis (RD). These services cover all aspects of disease research including pharmacodynamics, pharmacokinetics, and safety. Should you be interested in any of our services, do not hesitate to contact us for further details and quotes.
References
Myeloproliferative Disorders (MPDs)
Bone Marrow Failure Syndromes (BMFS)
