About Rare Metabolic Diseases
Rare metabolic diseases affect over 300 million people worldwide. In the United States alone, over 30 million people are living with a rare disease, and it is estimated that there are more than 1,400 recognized inherited metabolic disorders–yet fewer than 5% have FDA-approved therapies. These conditions often present early in life and lead to lifelong health complications. Diagnosis delays, limited treatment options, and complex management are major clinical pain points. Patients and families also face isolation due to lack of awareness and support networks.
Our mission is to accelerate the understanding and treatment of rare metabolic diseases through cutting-edge research and collaborative efforts. We aim to provide comprehensive services and innovative solutions to address the unique challenges faced by patients, researchers, and healthcare providers. By focusing on preclinical research, diagnostic advancements, and the development of novel therapies, we strive to improve the quality of life for those affected by these rare conditions and contribute to the broader scientific community's efforts in rare disease management.
Get a quoteTypes of Rare Metabolic Diseases
Clinical Research Progress
The field of rare metabolic diseases is undergoing a transformative era, marked by rapid therapeutic innovation and evolving clinical paradigms. Recent years have witnessed significant breakthroughs in gene and mRNA-based therapies, precision diagnostics, and patient-centered trial designs that are reshaping treatment approaches worldwide. This progress is supported by growing international collaboration, advanced biomarker discovery, and regulatory advancements facilitating orphan drug development. However, challenges remain in translating preclinical findings, ensuring global access to novel therapies, and addressing the unique complexities of these heterogeneous disorders.
| Therapy Category | Disease Target | Treatment Name/Approach | NCT Number | Phase |
| mRNA Therapy | Propionic Acidemia | mRNA-3927 (encodes PCCA/PCCB subunits) | NCT04159103 | Phase 1/2 |
| Gene Therapy | Gaucher Disease (Type I) | LY-M001 (AAV-GCase) | NCT04855065 | Phase 1/2 |
| Small Molecule | Homocystinuria | Betaine anhydrous | NCT03406611 | Phase 3 |
| Enzyme Replacement | Lysosomal Storage Disorders | Pegvaliase for PKU | NCT03952156 | Phase 3 |
| Substrate Reduction | Niemann-Pick Type C | Arimoclomol | NCT02612129 | Phase 2/3 |
| CRISPR-Based | Transthyretin Amyloidosis | NTLA-2001 (TTR gene editing) | NCT04601051 | Phase 1 |
Current Treatment Challenges
- Delayed Diagnosis: Rare metabolic diseases often present with symptoms that overlap with common conditions, leading to delayed or misdiagnoses.
- Limited Effective Therapies: Most rare metabolic diseases lack targeted treatments, relying on symptomatic management.
- High Drug Development Costs: The rarity and complexity of these diseases make clinical trials challenging and costly.
- Gene Therapy Challenges: While gene therapy shows promise, challenges include ensuring long-term expression and addressing immune responses.
How Our Services Address These Challenges
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Diagnostics Development
Protheragen provides essential diagnostic services for rare metabolic diseases. We offer karyotype analysis, omics analysis, biomarker development, and AI-driven diagnostics to enhance detection and understanding of these conditions.
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Disease Model Construction
Protheragen constructs accurate disease models for rare metabolic diseases. We develop PDX, cell-based, organoid, and animal models to support research and therapy testing.
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Drug Screening and Evaluation
Protheragen accelerates drug discovery for rare metabolic diseases. We identify disease targets, perform high-throughput screening, and conduct mechanism of action studies to find effective treatments.
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Pharmacodynamics and Pharmacokinetics Studies
Protheragen conducts PD and PK studies for rare metabolic diseases. We offer metabolic profiling, in vitro ADME, and in vivo pharmacokinetics services to optimize drug performance.
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Toxicology Studies
Protheragen performs comprehensive toxicology evaluations for rare metabolic diseases. Our services include general, genetic, and developmental toxicity assessments to ensure therapy safety.
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Specialized Services
Protheragen offers specialized solutions for rare metabolic diseases. We develop gene therapies, small molecule drugs, cell therapies, and precision medicine to advance treatment options.
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Protheragen has solidified its leadership in rare metabolic disease research through a synergistic integration of advanced technological platforms, domain-expert teams, and vertically integrated services spanning disease modeling to IND-enabling development. Supported by engineered models, drug screening, and species-specific toxicology assessments, its multidisciplinary scientists leverage decade-long experience from 120+ projects to deliver precision solutions for drug development.