Rare kidney diseases are a group of conditions, with at least 150 different disorders falling into this category. Kidney disorders are known to have a serious impact on the general kidney function, often lowering its ability to filter out waste and fluids from the blood, maintaining blood pressure, hemoglobin levels and electrolyte balance. Kidney disorders can either be short-term (acute kidney injury) or lifelong (chronic). Despite their relatively low prevalence, rare kidney diseases, including Immunoglobulin A nephropathy, lupus nephritis, focal segmental glomerular sclerosis, membranous nephropathy and C3 glomerulopathy, are believed to be major types of rare kidney diseases. Diagnosis, management, and treatment of such rare kidney diseases are complicated, especially when multi-system complications are present. However, the rising incidence and prevalence of rare kidney disease, with poor outcomes and high cost has led to an increased research activity in this domain.
Factors Contributing to Kidney Diseases
There are several factors which contribute to an increased risk of developing kidney diseases, including genetic causes and underlying metabolic causes (diabetes, high blood pressure, aging and obesity), which when combined with other factors increase the risk of developing kidney diseases. Moreover, the rising incidence and prevalence of rare kidney disease, with poor outcomes and high cost has led to an increased research activity in this domain:
- Genetic Causes: These comprise of changes in epigenetic regulation, allelic heterogeneity, incomplete penetrance, and chromosome inactivation.
- Underlying Metabolic Causes: These includes diabetes, high blood pressure, aging, and obesity.
- Other Causes (Lifestyle): These includes unhealthy diet, alcohol abuse, lack of exercise and smoking.
Key Historical Events related to Kidney Disease
Challenges Related to RKD Diagnosis and Treatment
Some of the challenges related to rare kidney diseases include small numbers of affected patients, insufficient model organisms, lack of biomarkers for monitoring disease progression, clinical heterogeneity, health policy constraints and need for complex care. They have been described below:
- Clinical Heterogeneity: This arises due to the insufficient study populations, poor access to genetic testing, and phenotypical differences.
- Unknown Genetic Cause: Since the molecular causes of majority of rare kidney diseases are unknown and also the unavailability of accurate genetic counselling and carrier testing has caused restraints in the diagnosis of rare kidney diseases.
- Absence of Biomarkers for Diagnosis: Due to the absence of genotype-phenotype correlations and prognostic markers, there have been challenges in the diagnosis and treatment of rare kidney diseases.
- Insufficient Model Organisms: Limitations of these model organisms includelong generation time and strain effects. Such obstacles lead to the limited use of such mouse models for development of rare kidney disease drug.
- Health Policy Constraints: There has beenlimited access to rare kidney disease specialty centers and genetic testing. Additionally, insufficient insurance coverage is one of the major challenge in rare kidney disease domain.
Technological Advancements in Rare Kidney Diseases Domain
Rare kidney disorders are known to have a genetic basis that are frequently progressive, disabling, and life-threatening. Additionally, the highly heterogeneous nature of rare kidney disease have been a challenge for the identification of disease specific targets. In order to investigate the new pathophysiological pathways for the identification of human translatable biomarkers and increase the success rate in drug development, various technologies are being integrated, including next-generation sequencing, omics analysis and artificial intelligence, with the ability to probe the diseased organ directly.
The various technological advancements in rare kidney diseases domain have been briefly described below:
- Next-generation Sequencing: Next-generation sequencing techniques have the capability to enhance the diagnostic efficiency for genetic renal diseases by concurrently examining all the relevant genes for a given phenotype efficiently and cost effectively. It is worth mentioning that the lucrative application of next-generation sequencing in various diagnostic mutation screening along with the use of multigene panels has been shown for certain rare kidney diseases, such as Alport syndrome.
- Omics Technologies: Omics technologies can provide opportunities in research for rare kidney diseases owing to their ability to probe the diseased organs directly for physiological processes within intra-renal cavity, these technologies have advanced research studies for rare kidney diseases.
- Cohorts and Biorepositories: Fragmentation of patient-specific information is a major obstacle for research and to tame this challenge registries, databases, and biorepositories have been created. It is worth mentioning that the European Platform for Rare Disease Registries has the ability to provide instruments in order to develop exchange between individual rare kidney disease registries.
Recent Developments in Rare Kidney Disease Domain
- In October 2023, the US FDA approved Rivfloza (developed by Novo Nordisk) for the treatment of primary hyperoxaluria to lower the urinary oxalate levels.
- In October 2023, Advicenne Pharma entered into a distribution agreement with Avanzanite Bioscience for the distribution of Sibnayal® into three additional European countries, including Ireland, Cyprus, and Malta.
- In August 2023, Cabaletta Bio entered into a manufacturing agreement with WuXi Advanced Therapies to advance the development of CABA-201 for patients with autoimmune diseases.
- In August 2023, Chinook Therapeutics was acquired by Novartis, in order to expand its pipeline of clinical and preclinical programs for patients with rare kidney diseases.
- In June 2023, Everest Medicines entered into an agreement with Guangdong Academy of Medical Sciences for renal disease research, scientific innovation and various translational studies.
- In May 2023, Cabaletta Bio raised USD 100 million through secondary offering, which the company plans to utilize for the development of its product candidate, CABA-201.
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