Skip to content

Our science and pipeline


Bringing Meaningful Therapies from One to Many

Proprietary platform to translate genetic insights

While it is well known that a single gene can lead to a rare disease, the function of mutations in those single genes and how they might be modulated for therapeutic intervention is often not well characterized. To overcome this and better utilize the breadth of genetic information now available for drug discovery and development, Actio is leveraging its human genetics platform to identify relevant disease targets, understand their function in disease and create medicines that modulate them. Actio’s platform comprises a vast proprietary target database, called the Rare Disease Target Atlas, and unparalleled expertise in bioinformatics, biology and chemistry.

Our Approach: De-risk Biology, Enable Rationale Expansion

Disease Target Prioritization

  • Rare monogenic diseases with unmet need
  • Prevalence estimated
  • Mechanism understood

Mutant Characterization

  • Functional analysis of pathogenic mutations
  • Disease relevant assays
  • Direction of modulation confirmed
  • Deep pathway understanding

Novel Preclinical Insights

  • Construct-valid preclinical model
  • Deep phenotyping for disease connections
  • Biomarker identification
  • Test therapeutic hypothesis and disease reversal

Rare Disease Trials

  • Natural history studies used to define endpoints and biomarkers
  • First interventional trials in de-risked homogenous disease

Indication Expansion

  • Identify most appropriate diseases
  • Leverage learnings from monogenic rare disease
  • Expand treatable patient population

We partner with industry leaders to provide validation for our targets and to help define clinical endpoints

Our partnership with the Rare Disease Translational Center at The Jackson Laboratory (JAX) is focused on evaluating targets and phenotypes of interest in high-quality genetically engineered mouse models at scale, enabling a high level of confidence in the outcomes observed.

Through collaborations with prominent academic centers, we gain further validation of the role of certain genes in disease, as well as insights into disease pathology to better inform the design of preclinical studies, rare patient natural history studies and future clinical trials.

Our Pipeline

We are advancing a pipeline of novel therapeutics initially focused on addressing rare diseases with significant unmet medical need where a new treatment will have a transformational impact on patient lives. Ultimately, we plan to apply learnings gathered through both the preclinical and clinical development processes to inform relevance of potential targets of interest in more common diseases.

Lead Candidate
Phase 1
  • Target: TRPV4

    Charcot-Marie-Tooth Disease 2C (CMT2C)

    Rare Bone Diseases

  • Target: Undisclosed

    Genetic Epilepsies

  • Target: Undisclosed

    Genetic Skin Diseases

Actio’s pipeline is led by a program targeting TRPV4, an ion channel target identified as high value through the company’s platform. Actio plans to initially evaluate it for the treatment of rare diseases caused by TRPV4 mutations, including Charcot-Marie-Tooth disease 2C (CMT2C), characterized by severe muscle weakness, vocal cord paresis and respiratory complications, as well as serious bone diseases such as metatropic dysplasia.

The Transient Receptor Potential Vanilloid 4 (TRPV4) is a member of the TRP cation channel superfamily. TRPV4 is a nonselective cation channel with high permeability for Ca2+, that is enriched in many different tissues such as skin, bladder, bone, lungs and retina, and endothelium. Like other members of the TRP superfamily involved in sensory transduction, TRPV4 is sensitive to multiple stimuli including temperature, hypoosmotic conditions, mechanical stress and specific ligands.

TRPV4 mutations cause two classes of rare autosomal dominant disorders: peripheral neuropathies and skeletal dysplasias. Currently, there are no specific treatments available for TRPV4-mediated diseases.

Actio’s lead small molecule program targets TRPV4 mutations and is advancing towards the clinic for treatment of CMT2C and other serious bone diseases. Evaluation of this program in novel construct-valid preclinical TRPV4 rare disease models has demonstrated marked improvements in motor function and mobility, bone morphology and increased lifespan compared to untreated controls.