Alström syndrome is an uncommon mono-genetically inherited disorder caused by a mutation in the Alström syndrome 1 (ALMS1) gene. It has an autosomal recessive pattern of inheritance. In order to address the Alström syndrome therapeutic research challenges, Protheragen provides integrated preclinical research and therapy development services, which include solutions in multiple fields of study.
Introduction to Alström Syndrome
Rare conditions such as this are usually reported in medical journals, and the first documentation was done in 1959 by Swedish physician Carl-Henry Alström. Alström syndrome is a genetic disorder that is inherited in an autosomal recessive pattern. It is believed that the syndrome stems from the mutation of the ALMS1 gene which affects various body systems. Alström syndrome is one of several syndromes that are associated with early symptoms; these symptoms usually develop in later childhood and adulthood.
Pathogenesis of Alström Syndrome
Alström syndrome is an autosomal recessive ciliopathy due to biallelic mutations of the ALMS1 gene, which encodes a centrosomal/ciliary protein critical for cilia formation, energy homeostasis and intracellular trafficking. Loss of ALMS1 function impairs the signaling processes regulated by the cilia leading to the multi-system effects such as metabolic imbalance and loss of higher sensory functions. Thus, Alström syndrome exemplifies a prototypical ciliopathy with constructive cellular malfunction from pervasive compromise of cilia driven processes.
Fig.1 Representative post-mortem renal histology data in two AS subjects. (Baig
et al., 2020)
Therapeutics Development for Alström Syndrome
| Therapeutic Strategy |
Therapeutic Target |
Key Mechanisms/Advances |
Development Stage |
| PBI-4050 |
Antifibrotic (GPCR/TGF-β inhibition) |
Early biomarker improvement in liver/kidney; long-term safety validation needed |
Phase II Clinical Trial |
| Belzutifan |
HIF-2α inhibition |
Efficacy in animal models; anemia risk management required |
Phase II Trial (Repurposed) |
| AAV-ALMS1 Gene Therapy |
ALMS1 gene replacement |
Partial phenotype reversal in mice; delivery efficiency challenges |
Preclinical |
| rhGH Therapy |
Metabolic modulation |
Short-term efficacy observed; cardiovascular risk monitoring needed |
Case Studies |
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
Protheragen is a comprehensive preclinical service provider dedicated to advancing the understanding and potential therapeutic avenues for Alström syndrome. Our expertise in metabolic and genetic disorders, sophisticated disease models, and diverse therapeutic development platforms allows us to support research into its underlying mechanisms and associated systemic conditions.
Therapeutic Development Platforms for Alström Syndrome
Disease Models Development for Alström Syndrome
Protheragen provides cutting-edge and comprehensive disease models to accelerate preclinical research into Alström syndrome. Our platform integrates cell-based models, kidney organoids, and animal models to effectively mirror the genetic and developmental characteristics of this complex syndrome.
- ALMS1-mutated patient-derived fibroblasts
- ALMS1-KO human iPSCs
- ALMS1-deficient cardiomyocyte differentiation model
- Adipocyte metabolic dysfunction model
- iPSC-derived cardiac organoids
- Alms1 knockout mice
- Alms1 morphant/mutant model
- Alms1 conditional knockout rat model
- Alms1 point mutation knock-in mice
- Alms1-mutant rabbits
Protheragen's integrated preclinical development solutions are specifically designed for research in rare kidney diseases, such as Alström syndrome. We specialize in custom disease model development, pharmacokinetics, and drug safety evaluation, enabling comprehensive support for your investigation.
Contact us today to accelerate your Alström syndrome research with end-to-end solutions.
References
- Baig, S., et al. "Defining Renal Phenotype in Alstrom Syndrome." Nephrol Dial Transplant 35.6 (2020): 994-1001.
- Bea-Mascato, B., and D. Valverde. "Genotype-Phenotype Associations in Alstrom Syndrome: A Systematic Review and Meta-Analysis." J Med Genet 61.1 (2023): 18-26.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
