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Method for diagnosing Hereditary Hemorrhagic Telangiectasia (HHT)

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Partner keyword: 
Diagnostics, Diagnosis
Gene - DNA Therapy
In-vitro diagnostics
Molecular diagnosis
Other diagnostic


A research group from a major Spanish university has developed a new method for the molecular diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT) disease and its different variants. The group is looking for a pharmaceutical company interested in a license agreement of the patented technology.



Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease (estimated prevalence is 1-5/10.000) with autosomal dominant inheritance that results in arteriovenous dilatations in skin, mucous membranes and internal organs, with propensity to hemorrhagic episodes.

The current diagnosis is clinical, but the diagnosis is often delayed due to the gradual onset of symptoms. Thus, having a clinical suspicion, the only confirmation test available is nowadays a mutational genetic analysis. However, the mutational study in the target genes fails to diagnose all patients (predominance of new mutations in affected individuals and difficulties in the detection of mutations in heterozygosis and in non-coding regions of DNA).

Given this problem, a research group from a major Spanish university has developed and patented a new method for the molecular diagnosis of this disease. It is based on the quantification of a set of microRNAs (miRNAs) transported by plasma exosomes, and in addition, this set allows diagnosing different variants of the disease. This new method has the advantage of providing new biomarkers that allow a rapid and reliable diagnosis of HHT, since the current methods are not valid for all the patients affected with HHT.

The invention thus provides the use of new diagnostic biomarkers, based on the quantification of 8 microRNAs carried by plasma exosomes. These miRNAs provide useful data for the diagnosis of HHT and allow to classify the disease in two subtypes: HHT1 and HHT2.

The University is looking for a company in order to reach a license agreement for this invention.

Advantages & innovations

Cooperation plus value: 
Early diagnosis: The current diagnosis of HHT depends on the onset of the symptoms. This new method would allow an early diagnosis, providing a better quality of life for patients and a reduction of healthcare costs. Diagnosis independent of genetic mutations: This approach solves the inconvenience of diagnosing a small percentage of patients who do not carry the mutations in the candidate target genes. Disease classification: The diagnosis can classify the disease into its two variants, HHT1 and HHT2. Suitability of the biological sample analyzed: - The biological sample analyzed is easily accessible: liquid biopsy (blood extraction). - Plasma exosomes have a high bioavailability and are relatively easy to obtain. Simple and efficient analysis of the disease: - The fact that the present invention uses miRNAs (very short and well-defined RNAs) as diagnostic biomarkers has the advantage of being an easy and reliable detection; unlike the current genetic testing, which requires the complete sequencing of several genes. - Furthermore, the present invention uses optimized probes for miRNAs, thus increasing the limit of detection and specificity. - The necessary equipment is common and accessible in regular laboratories. One of the possible ways to quantify the expression of miRNAs uses real-time PCR (qPCR). This technique is very popular nowadays and has evolved enormously, and its costs, consequently, have been reduced significantly, especially of the required instruments.

Stage of development

Cooperation stage dev stage: 
Under development/lab tested

Partner sought

Cooperation area: 
The University is looking for companies involved in molecular diagnostic. The role of the company is to further develop the technology in order to bring it to the market.

Type and size

Cooperation task: 
>500 MNE,251-500,SME 51-250,>500