Your Gateway to End-to-End Drug Development for Rare Liver Diseases

Rare Liver Diseases: Scientific Advances and Evolving Market Landscapes

Rare liver diseases, though individually uncommon, collectively impact millions globally, with genetic and metabolic disorders like alpha-1 antitrypsin deficiency (AATD) often causing progressive organ damage. Historically limited to palliative care or transplants, the field now sees transformative potential through gene editing, RNA interference (RNAi), and advanced drug delivery systems. These scientific advances are now converging with growing industry investment. Regulatory incentives, including orphan drug policies in the U.S. and EU, further accelerate development by offering market exclusivity and reduced approval barriers. While challenges like high costs and niche patient populations remain, the synergy of cutting-edge science and strategic collaborations is reshaping rare liver disease therapeutics into a high-potential precision medicine frontier.

Research Advances

Global research efforts are driving unprecedented advancements in rare liver disease therapeutics, spanning gene editing, RNA-based modalities, and precision diagnostics.

Gene Therapy Progress

• CRISPR-based gene editing shows therapeutic potential for Artemis-deficient SCID in preclinical studies.
• The ARCUS platform demonstrates breakthrough progress in targeting cccDNA for functional cure of chronic hepatitis B.

RNA Interference Therapy

• ARO-AAT Phase II trials achieved 93-95% reduction in Z-AAT protein levels for α-1 antitrypsin deficiency.
• RNAi therapies show clinical potential to reduce liver transplantation demand through targeted protein suppression.

Nanotechnology Applications

• Nanoprobes and nanocarriers enable precise liver disease diagnosis and cell-specific drug delivery systems.
• Advanced targeting systems now differentiate hepatic cell types (hepatocytes, stellate cells, Kupffer cells) for optimized therapy.

Diagnostic Advances

• ctDNA analysis via K-TRACK platform improves HCC monitoring and recurrence prediction accuracy.
• Non-invasive diagnostic tools increasingly replace liver biopsies through enhanced biomarker detection capabilities.

Multiple Rare Liver Diseases

Rare liver diseases are classified into distinct categories based on etiology and pathophysiology, including metabolic disorders, cholestatic diseases, fibrotic/sclerotic conditions, vascular anomalies, and inherited cancer predisposition syndromes. These groups exhibit diverse molecular mechanisms and clinical presentations, necessitating customized services for disease drug development.

Hereditary Liver Diseases

Our services address genetic mutations in conditions like Wilson’s disease and alpha-1 antitrypsin deficiency through gene correction. We also engineer liver-specific AAV vectors for targeted gene delivery.

Metabolic Liver Diseases

Using mass spectrometry and NMR, we identify metabolic disruptions and create small-molecule drugs to restore pathway functions.

Immune-Mediated Liver Diseases

We analyze liver-infiltrating immune cells via flow cytometry and single-cell sequencing, then develop CAR-T therapies and immune checkpoint modulators for autoimmune hepatitis management.

Other Rare Liver Diseases

For rare liver tumors, we design inhibitors and antibody-drug conjugates (ADCs). For congenital disorders like Alagille syndrome, we build cell/animal models to test treatment strategies.

Our Featured Platforms

AAVLink™ : Adeno-Associated Virus (AAV) Vector Platform

We develop tissue-targeted AAV vectors to deliver therapeutic genes or correct genetic defects in liver cells, addressing rare conditions like Wilson’s disease and α1-antitrypsin deficiency through precise gene therapy.

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GeniusAb™ : Fully Human Single Domain Antibody Platform

We engineer fully human single-domain antibodies (sdAbs) with high tissue penetration and antigen specificity, enabling diagnostic imaging and targeted drug delivery for autoimmune hepatitis and metabolic liver disorders.

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EndureCART™ : CAR-T Platform with Persistent Efficacy

We design CAR-T therapies targeting liver cancer cells or immune-modulating cells in the liver microenvironment, offering novel immunotherapeutic solutions for rare liver tumors and advanced hepatic conditions.

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ImmuBridge™ : Multispecific Antibodies Platform

We create multispecific antibodies and T-cell engagers (TCEs) that bridge liver-specific antigens and immune cells, amplifying anti-tumor responses in rare liver diseases through enhanced immunotherapy.

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Service Workflow

Our workflow spans concept development to preclinical validation, ensuring efficiency and integration at each phase. Services include needs assessment, customized design, model development, therapeutic implementation, and data analysis. We collaborate closely with clients to provide focused research support, accelerating project timelines through structured execution tailored to meet specific requirements.

1-2 weeks

Demand Analysis & Scheme Design

3-6 weeks

Model Establishment & Verification

4-8 weeks

Therapeutic & Effect Evaluation

1-2 weeks

Data Analysis & Reporting

Why Choose Our Services?

Protheragen stands at the forefront of rare liver disease research, combining cutting-edge technologies with deep therapeutic expertise to deliver unparalleled preclinical solutions.

Professional Focus

Technology Leading

Full-chain Service

Globalization Ability

Customized Solutions

FAQs for Rare Liver Diseases Services

What disease models do you offer for rare liver diseases?

We provide cell models, animal models, and organoid models covering major rare liver disease types.

What distinguishes your biomarker discovery services?

Our platform integrates multi-omics technologies for comprehensive disease-related biomarker analysis.

Do you support multiple drug types in screening services?

Yes, we support screening and evaluation of small molecules, cell therapies, and gene therapies.

Are your services internationally compliant?

All services adhere to international standards and regulatory requirements, ensuring data accuracy and reliability.

How do you optimize liver-targeted delivery efficiency?

We enhance liver specificity through three approaches: 1) Ligand modification; 2) Optimizing carrier properties; 3) Route selection.

Our Laboratory