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Kartagener Syndrome

Kartagener syndrome, a rare and unique genetic disorder, impacts the cilia - minute hair-like structures known to line the respiratory tract, fallopian tubes in females, and sperm cells in males. Our company has rich experience and professional talents in the research field of rare diseases such as Kartagener syndrome and can provide you with all-around services to support the development of new therapies for this rare disease.

Introduction to Kartagener Syndrome

Kartagener syndrome is a subset of primary ciliary dyskinesia (PCD), it is a condition characterized by dysfunctional cilia leading to repeated respiratory infections, bronchiectasis, and sinusitis. The syndrome's prevalence varies from 1/15000 to 1/30000 and is characterized by sinusitis, bronchiectasis, and situs inversus. In addition to fertility problems, individuals often have recurrent chest infections and ENT problems.

Different forms of structural abnormalities of cilia in PCD individuals.Fig.1 Illustration representing the normal transverse appearance of motile respiratory cilia ultrastructure and common abnormalities associated with primary ciliary dyskinesia. (Newman, L., et al., 2023)

Pathogenesis of Kartagener Syndrome

The pathogenesis of Kartagener syndrome stems from mutations in the genes coding for the cilia's structure and functionality, particularly the dynein axonemal intermediate chain 1 (DNAI1). When cilia become defective, their ability to expel mucus and bacteria from the respiratory tract diminishes, resulting in perennial infections and fertility complications. Furthermore, defective cilia in the embryonic node disrupt the organ placement in the body, triggering situs inversus.

Diagnostics Development of Kartagener Syndrome

For Kartagener syndrome, genetic testing is an important method to achieve accurate diagnosis and develop personalized therapeutic. Which can help identify mutations in more than 30 genes associated with the condition.

  • DNAI1
  • DNAH5
  • CCDC40
  • ODAD3
  • RSPH4A
  • DNAI2
  • DNAH11
  • DNAAF3
  • Others

Therapeutics of Kartagener Syndrome

Small Molecule Drugs Therapy

Therapy with bronchodilators (such as albuterol and ipratropium), corticosteroids (fluticasone), and antibiotics (such as azithromycin) can help open the airways or reduce inflammation. In addition, some mucolytic agents can dilute mucus to make it easier to cough and clear.

Gene Therapy

Since Kartagener syndrome is a genetic disorder, gene therapy could potentially offer a future therapeutic approach. Gene therapy involves in-situ correction of defective genes or insertion of a functional gene to restore normal function.

Our Services

Through our expansive research experience and professional talent pool, we devote ourselves to providing services such as animal models and therapeutic platforms, to support you create groundbreaking therapies for Kartagener syndrome.

Platforms of Kartagener Syndrome Therapy Development

Animal Models of Kartagener Syndrome

Our company can provide animal models for Kartagener syndrome chemically induced or genetically modified to personify the symptoms and attributes of the human condition comprehend the intricacies of Kartagener syndrome and develop novel therapies.

Chemical-induced Models
Some methods employ chemical mutagens such as ENU to induce point mutations in animal genes. These models portray characteristic symptoms akin to PCD, encompassing respiratory infections and laterality defects.
Optional Models
  • ENU-induced model
Genetically Engineered Models
Gene-editing techniques, notably CRISPR/Cas9, mold specific genes, thus generating animal models for Kartagener syndrome. This procedure allows for precise gene manipulation, resulting in animals that accurately mirror the human genetic profile of the disease.
Optional Models
  • Ccdc40em11Gpt model
  • Ccdc40em1Gpt model
  • Ccdc40em1(IMPC)J model
  • Rsph4aem1Cya model
  • Rsph4aem9Gpt model
  • Odad3em1Gpt model
  • Odad3em2Gpt model
  • Dnai1em4Gpt model
Optional Species Mice, Rats, Zebrafish, Non-Human Primates, Others

Our company is well-versed in researching rare diseases and offers comprehensive services to support your research of pharmacokinetics analysis and drug safety evaluation. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.


  • Cheng, Lili et al. "Anesthetic management of patients with Kartagener syndrome: A systematic review of 99 cases." Journal of cardiothoracic and vascular anesthesia 37.6 (2023): 1021-1025.
  • Newman, Lydia et al. "The impact of primary ciliary dyskinesia on female and male fertility: a narrative review." Human reproduction update 29.3 (2023): 347-367.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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