Make an Inquiry
Accelerating Mitochondrial Disease Drug Development

Mitochondrial diseases present complex therapeutic challenges due to their genetic diversity, multisystem involvement, and limited treatment options. Protheragen is a specialized partner in preclinical drug development, dedicated to advancing novel therapeutics for mitochondrial disorders. Leveraging deep scientific expertise and state-of-the-art technology platforms, Protheragen delivers comprehensive preclinical solutions spanning target validation, lead optimization, pharmacology, toxicology, and IND-enabling studies. Our integrated approach ensures rigorous data quality and full regulatory compliance, streamlining the path from discovery to clinical readiness. With a proven track record in mitochondrial biology and drug development, Protheragen is committed to accelerating the translation of innovative science into effective therapies, empowering partners to address unmet medical needs in mitochondrial disease with confidence and speed.

What is Mitochondrial DiseaseTargets for Mitochondrial DiseaseDrug Discovery and Development ServicesWhy Choose Us

What is Mitochondrial Disease

Mitochondrial disease refers to a diverse group of inherited disorders caused by dysfunction of the mitochondria, the organelles responsible for generating most cellular energy through oxidative phosphorylation. These diseases arise from mutations in either mitochondrial DNA (mtDNA) or nuclear DNA, affecting genes essential for mitochondrial function. The underlying pathophysiology involves impaired energy production, resulting in insufficient ATP supply, particularly impacting tissues with high energy demands such as the brain, muscles, heart, and liver. This energy deficit leads to multisystem involvement and significant morbidity. Clinically, mitochondrial diseases present with a broad spectrum of symptoms, including neuromuscular weakness, developmental regression, seizures, cardiac dysfunction, endocrine abnormalities, and organ failure. Specific syndromes include Leigh syndrome, MELAS, MERRF, Kearns-Sayre syndrome, and Pearson syndrome, each with characteristic features and age of onset. Diagnosis is complex, requiring a combination of clinical assessment, metabolic testing, neuroimaging, muscle biopsy, and molecular genetic analysis to identify pathogenic mutations. While advances in molecular diagnostics have improved recognition and understanding of these disorders, treatment remains largely supportive and symptomatic, focusing on managing complications, optimizing energy metabolism, and providing multidisciplinary care. No curative therapies currently exist, but ongoing research aims to develop targeted treatments.

Learn More

Targets for Mitochondrial Disease

Targets in Clinical or Later Phases of Development

Target Name Gene Symbol
15-Lipoxygenase (nonspecified subtype)
arachidonate 15-lipoxygenase ALOX15

Mitochondrial disease is closely associated with dysfunction in critical molecular targets that maintain mitochondrial genome integrity and support cellular energy metabolism. DNA Polymerase Gamma (POLG) is the sole DNA polymerase responsible for replicating and repairing mitochondrial DNA (mtDNA). Mutations in POLG disrupt mtDNA replication fidelity, leading to deletions and depletion that compromise the mitochondrial respiratory chain and ATP production. Another key target, Dihydroorotate Dehydrogenase (DHODH), is an inner mitochondrial membrane enzyme that links de novo pyrimidine biosynthesis with the electron transport chain by transferring electrons to ubiquinone. Deficiency or inhibition of DHODH impairs nucleotide synthesis and mitochondrial respiration, exacerbating the metabolic deficits seen in mitochondrial diseases. Therapeutically, both POLG and DHODH represent important avenues for intervention in mitochondrial disease. POLG serves as a critical biomarker for genetic diagnosis and disease classification, although direct therapies targeting POLG are not yet available. Current management focuses on avoiding nucleoside analog toxicity and providing supportive care. DHODH is a target of clinically used inhibitors in autoimmune disorders, but its essential role in mitochondrial function cautions against indiscriminate inhibition. Ongoing research aims to develop small molecules or gene therapies that can restore or modulate these pathways, with the goal of improving mitochondrial function and patient outcomes. These targets also offer potential as biomarkers for disease progression and therapeutic response, supporting the advancement of precision medicine approaches in mitochondrial disease.

Learn More

Drug Discovery and Development Services

In Vitro Efficacy Testing ServicesIn Vivo Model DevelopmentPK/PD Study ServicesIn Vivo Toxicity Assessment ServicesBiomarker Analysis Services
In Vitro Efficacy Testing Services

Online Inquiry

Our In Vitro Efficacy Testing Service accelerates mitochondrial disease drug discovery with robust, sensitive screening platforms. We employ biochemical and fluorescence-based assays, including HTRF and substrate-specific methods, to assess compound potency, target engagement, and pathway modulation. Key targets include 5-HT2B, ACMSD, and CNDP2, with critical parameters such as IC-50 and Kb determined for precise candidate ranking. Our assays evaluate mitochondrial energy metabolism, oxidative stress, and bioenergetic deficits, delivering comprehensive data to inform lead optimization. This service empowers researchers with actionable insights for selecting and advancing effective therapies targeting mitochondrial dysfunction and associated pathological processes.

5-Hydroxytryptamine Receptor 2B Aminocarboxymuconate Semialdehyde Decarboxylase
Carnosine Dipeptidase 2

Learn More

Why Choose Us

Choosing Protheragen for your Mitochondrial disease drug development needs means partnering with a team that brings specialized expertise and a deep commitment to this challenging field. At Protheragen, we have assembled highly skilled professionals who are dedicated to advancing research and therapeutic solutions for Mitochondrial disease. Our advanced technology platforms are designed to support every stage of preclinical drug development, ensuring that each project benefits from cutting-edge tools and methodologies. Protheragen’s proven track record demonstrates our reliability and effectiveness in delivering comprehensive preclinical services, from initial discovery through to IND-enabling studies. We uphold the highest quality standards and maintain strict regulatory compliance, giving our partners confidence in the integrity and reproducibility of our results. Above all, Protheragen is driven by a sincere commitment to improving outcomes for patients affected by Mitochondrial disease. By choosing Protheragen, you are selecting a partner who values professionalism, scientific rigor, and the shared goal of advancing innovative therapeutics in this vital area.

FAQs for Our Services

Q: What are the main preclinical research challenges specific to developing drugs for Mitochondrial disease?

A: Mitochondrial diseases are highly heterogeneous, both genetically and phenotypically, which makes modeling the disease in preclinical settings particularly challenging. Additionally, the lack of robust animal models that accurately recapitulate human mitochondrial dysfunction often complicates efficacy and safety assessments. Our team addresses these challenges by leveraging advanced cellular models, including patient-derived iPSC lines and CRISPR-engineered cell lines, to more closely mimic disease pathology and improve translational relevance.

Q: What regulatory considerations should be taken into account during preclinical drug development for Mitochondrial disease?

A: Given the rarity and complexity of mitochondrial diseases, regulatory agencies such as the FDA and EMA often provide special pathways, including orphan drug designation and expedited review processes. However, regulatory expectations for demonstrating safety and proof-of-concept efficacy remain rigorous. Our company ensures that all preclinical studies are designed in alignment with current regulatory guidance, including appropriate toxicity studies and the use of validated biomarkers, to facilitate a smooth transition to clinical phases.

Q: What technical aspects are crucial when conducting preclinical research for Mitochondrial disease therapies?

A: Key technical considerations include the selection of relevant in vitro and in vivo models, the use of sensitive assays to measure mitochondrial function (such as ATP production, oxygen consumption rate, and mitochondrial membrane potential), and the evaluation of off-target effects. Our preclinical platform incorporates state-of-the-art technologies, including high-content imaging and omics-based approaches, to provide comprehensive mechanistic insights and robust data packages.

Q: What are the typical timeline and cost considerations for preclinical development of drugs targeting Mitochondrial disease?

A: Preclinical development timelines for mitochondrial disease drug candidates generally range from 18 to 36 months, depending on the complexity of the program and the extent of required studies. Costs can vary significantly but often fall between $2 million and $7 million, reflecting the need for specialized models and assays. Our company offers flexible service packages and project management support to optimize timelines and control costs while maintaining the highest scientific standards.

Q: What are the key success factors in preclinical drug development for Mitochondrial disease?

A: Success in this field hinges on the selection of relevant disease models, the use of validated biomarkers, and the generation of high-quality, reproducible data that can withstand regulatory scrutiny. Early engagement with regulatory agencies and patient advocacy groups is also critical. Our expertise in mitochondrial biology, combined with our integrated preclinical service platform, enables our clients to de-risk their development programs and increase the likelihood of successful clinical translation.

Make an Inquiry
Important Links
Get in Touch with Us

Copyright © 2025 Protheragen. All rights reserved.