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Project Description

Please note that we are a research service provider, not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.

Retinal Astrocytic Hamartoma

Retinal Astrocytic Hamartoma (RAH) is a benign tumor of the retina, usually linked with some genetic disorders like Tuberous Sclerosis Complex (TSC) or, less commonly, Neurofibromatosis Type 1 (NF1). Protheragen is leading the way in research and therapy development for Retinal Astrocytic Hamartoma, providing a comprehensive suite of services to aid in the creation and enhancement of new diagnostics and therapeutics.

Introduction to Retinal Astrocytic Hamartoma

Retinal Astrocytic Hamartoma (RAH) is a benign glial tumor that arises from the nerve fiber layer of the retina. RAH is primarily noted for its association with Tuberous Sclerosis Complex (TSC), an autosomal dominant condition linked to alterations in TSC1 or TSC2 genes. RAH is characterized by 'mulberry-like' features or calcified nodules visible on fundus examination. The TSC1 or TSC2 mutations excessively activate the mammalian target of rapamycin (mTOR) signaling pathway, resulting in uncontrolled cell growth and hamartoma formation across multiple organs, including the retinas. Compared to TSC patients, the phenomenon of RAH tumor formation is relatively better understood in patients with Neurofibromatosis Type 1 (NF1), but the underlying mechanisms remain obscure.

The anatomy of the eye and the anatomical classification of intraocular lymphoma (IOL).

Fig.1 Sirolimus therapy for retinal astrocytic hamartoma (RAH). (Zhang C. X., et al., 2022)

Diagnostic Methods for Retinal Astrocytic Hamartoma

Genetic Testing

Undertaking genetic testing is crucial when it comes to diagnosing RAH, especially for TSC or NF1 associated cases. Mutations in the TSC1, TSC2, and NF1 genes are detected using Next generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA). The results of these tests not only resolve the diagnosis but also aid in evaluating the risks and providing genetic counseling to the at risk families.

Histopathological Analysis

Histopathological analysis is rarely performed mainly because of the dangers involved in performing a retinal biopsy, but HPE remains the gold standard procedure for definitive diagnosis. The presence of calcification and gliosis in varying degrees leads to the identification of proliferative astrocytes in hindsight exam of retinas.

Therapeutics Development for Retinal Astrocytic Hamartoma

mTOR Inhibitors
Inhibition of mTOR using sirolimus and everolimus shows feasibility in reducing the size of TSC-associated RAH lesions. These drugs inhibit the mTOR pathway, which is hyperactive in TSC and results in the development of hamartomas.

Anti-VEGF Therapy
Anti-VEGF agents work by inhibiting the protein responsible for blood vessel growth, which is why they are used in treating subretinal fluid and neovascularization issues linked to RAH. Bevacizumab and ranibizumab are examples of these anti-VEGF agents.

Our Services

Protheragen provides an integrated approach to developing diagnostics and therapeutics for Retinal Astrocytic Hamartoma. Our services encompass the entire development pipeline, from target identification and validation to preclinical testing.

Diagnostics Development

Karyotype Analysis Service
Omics Analysis Service
Biomarker Development Service
Artificial Intelligence Service
Customized Diagnostics Development

Therapeutic Development

Small Molecule Drug
Cell Therapy
Gene Therapy
Therapeutic Antibody
Therapeutic Peptide
Therapeutic Protein
Customized Therapy Development

Disease Models

TSC Knockout Mouse Models
TSC1/TSC2 Conditional Knockout Models
TSC1/TSC2 Knockdown Rat Models
TSC1/TSC2 Knockout Zebrafish Models
Human iPSC-Derived Retinal Organoids

Protheragen's preclinical research services are designed to accelerate the development of novel therapies for RAH. Our services include in vitro and in vivo model development, pharmacokinetic and pharmacodynamic studies, and toxicology assessments. If you are interested in our services, please feel free to contact us.

References

Zhang, Chen-Xi, et al. "Long-term efficacy and safety of sirolimus for retinal astrocytic hamartoma associated with tuberous sclerosis complex." Frontiers in Cell and Developmental Biology 10 (2022): 973845.
Allan, Kevin C., et al. "Rapid symptomatic and structural improvement of a retinal astrocytic hamartoma in response to anti-VEGF therapy: a case report." American Journal of Ophthalmology Case Reports 27 (2022): 101606.