As a dedicated research services provider, we specialize in delivering comprehensive, one-stop preclinical solutions for rare kidney disease drug and therapy development. From diseases model development to innovative therapy research, we support your project with tailored strategies and cutting-edge expertise.
Introduction to Rare Kidney Diseases
Rare kidney diseases encompass a diverse group of disorders, often with a genetic basis, including conditions like Alport syndrome, Fabry disease, and nephronophthisis. These conditions typically involve complex pathophysiological mechanisms, posing challenges in diagnosis and treatment. Recent advancements in genomics and precision medicine have significantly enhanced our understanding of these diseases, paving the way for targeted therapeutic strategies.
Fig.1 Inherited kidney disorders linked to nephron segments. (Devuyst, O., et al., 2014)
Therapeutics Development for Rare Kidney Diseases
Therapeutics for rare kidney diseases are progressing with advancements in gene therapy, targeted drugs, and immunotherapy. Key developments include gene-editing techniques for genetic disorders, innovative drugs like budesonide and Sibeprenlimab for IgA nephropathy, and personalized approaches leveraging precision medicine.
Table.1 List of rare genetic kidney diseases with their defective gene, protein, and kidney-directed gene therapy clinical trial. (Khare, V., and S. Cherqui., 2024)
| Disease |
Defective protein (gene) |
Clinical manifestation: renal/extrarenal |
Gene therapy |
Mode of delivery (injection) |
Kidney-directed clinical trial |
| AS |
Collagen type IV alpha 5 chain (COL4A5) |
Renal: hematuria, proteinuria, progression to kidney failure |
In vivo (adenovirus) ASO/exon skipping |
Renal artery |
|
| ADPKD |
Polycystin 1 (PKD1) |
Renal: moderately increased albuminuria, hypertension, proteinuria, hematuria, kidney failure |
RGLS4326 (anti–miR-17) |
s.c. |
NCT04536688 (completed) |
| CAII deficiency |
Carbonic anhydrase 2 (CAII) |
Renal: renal tubular acidosis |
Nonviral vector |
Renal pelvis |
|
| Cystinosis |
Chloride voltage-gated channel 5 (CLCN5) |
Fanconi syndrome with kidney failure (in men), radiopaque calcium stones, hypercalciuria, nephrocalcinosis |
Ex vivo BMT In vivo (lentivirus) |
Systemic (i.v.) Retrograde ureter |
NCT03448692 |
| Dent disease (type 1) |
FSGS |
ROBO2 |
Fc fusion protein |
Phase II |
|
| Joubert syndrome |
Multiple genes, one of them is centrosomal protein 290 (CEP290) |
Renal: renal cystic disease, typical features of nephronophthisis |
ASO/exon skipping |
Systemic (series of i.v.) |
|
| Nephrotic syndrome |
Podocin (NPHS2) |
Renal: proteinuria, hypoalbuminemia |
In vivo (AAV2/9) |
Systemic (i.v.) |
|
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.
Diseases Model Development for Rare Kidney Diseases
The development of disease models for rare kidney diseases is crucial for understanding their mechanisms, testing potential treatments, and advancing personalized medicine. Approaches such as organoid models, microfluidic systems, and animal models offer unique insights and tools to study these complex conditions, driving innovation in research and therapeutic development.
Organoid models use patient-derived stem cells or iPSCs to create three-dimensional kidney microstructures that replicate renal architecture and function. They are particularly effective for studying genetic kidney diseases like polycystic kidney disease and Alport syndrome, providing a personalized platform for mechanism exploration and drug screening.
- Microfluidic and Organ-on-a-Chip Systems
Kidney-on-a-chip systems recreate the kidney's biophysical environment using microfluidic technology, making them valuable for studying disease mechanisms such as acute kidney injury (AKI) and diabetic nephropathy. They are also used to efficiently test drug toxicity and efficacy, aiding early-stage drug development.
Animal models, developed through precise genetic engineering, replicate disease progression and are essential for studying complex multi-organ mechanisms. Examples include Alport syndrome mouse models and zebrafish models, which are widely used to investigate pathophysiology and validate long-term therapeutic approaches.
Our Services
We specialize in supporting the research and development of therapies for various types of rare kidney diseases. Each condition presents distinct genetic and pathological characteristics, and our team's deep expertise allows us to navigate these complexities. We provide tailored solutions to advance effective treatments, addressing the unique challenges of these disorders.
Types of Rare Kidney Diseases
At our company, we offer specialized services to advance therapies for rare kidney diseases. With expert teams and cutting-edge technologies, we drive innovation to address the challenges of these complex disorders.
Therapeutic Development Services
Disease Model Development Services
- Cell-based Models Development Service
- Organoid Models Development Service
- Genetically Engineering Model Development
- Induced Disease Model Development
- Humanized Animal Model Development
- Syngeneic Model Development
- Xenograft Model Development
Our company dedicated to offering comprehensive, one-stop preclinical development services, encompassing everything from disease model development to innovative therapy research, along with specialized support in pharmacokinetics and drug safety evaluation. If you are interested in our services, please don't hesitate to
contact us.
References
- Devuyst, O., et al. "Rare Inherited Kidney Diseases: Challenges, Opportunities, and Perspectives." Lancet 383.9931 (2014): 1844-59.
- van der Wijst, J., et al. "Learning Physiology from Inherited Kidney Disorders." Physiol Rev 99.3 (2019): 1575-653.
- Khare, V., and S. Cherqui. "Targeted Gene Therapy for Rare Genetic Kidney Diseases." Kidney Int 106.6 (2024): 1051-61.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.
