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Nuevo kit y método de detección in vitro de portadores sanos de ataxia telangiectasia

Resumen

Tipo:
Oferta Tecnológica
Referencia:
TOIT20150616001
Publicado:
19/12/2016
Caducidad:
19/12/2017
Resumen:
Un equipo de investigación italiano ha desarrollado un nuevo método para detectar portadores de ataxia telangiectasia. Este método consiste en un análisis de sangre capaz de determinar la cigosidad de la ataxia telangiectasia mutante, su susceptibilidad a radiaciones ionizantes y su alta predisposición a desarrollar patologías cardiovasculares y tumores. A diferencia de los ensayos genómicos actuales, este ensayo es capaz de identificar pacientes con ataxia telangiectasia y portadores de forma rápida, segura y económica. El equipo de investigación busca socios industriales con el fin de establecer acuerdos de licencia, cooperación en materia de investigación y comercialización con asistencia técnica.

Details

Tittle:
Innovative Method for in vitro detection of AtaxiaTelangiectasia healthy carriers and related kit
Summary:
An Italian group of researchers has developed an innovative medical method to detect Ataxia Telangiectasia (AT) carriers. It consists of a blood test able to determine mutant ATM (ataxia telangiectasia mutated) zygosity, their susceptibility to ionizing radiations and their higher predisposition to develop cardiovascular pathologies and tumours. The group looks for an industrial partner interested in licence agreements, research cooperation or commercial agreements with technical assistance.
Description:
A group of Italian researchers has developed an innovative test for diagnostic laboratories to identify Ataxia Telangiectasia (AT) patients, as well as AT carriers by a quick, reliable, and cheap blood test.

AT is a rare autosomal recessive multisystemic syndrome characterized by progressive cerebellar degeneration, telangiectasias, immunodeficiency, recurrent infections, insulin-resistant diabetes, premature aging, radiosensitivity, and high risk for malignancy, particularly leukemia and lymphoma in children and epithelial cancers in surviving adults.
AT is present throughout the world, with an incidence of 1 in 10,000 to 100,000 newborns. However, because of the difficulties in diagnosis, particularly in those children who die young, AT might actually be more frequent than currently estimated. The theoretical frequency of AT mutant allele heterozygosity (AT carriers) has been calculated as 1.4%-2% of the general population, though slight variations can be encountered in different countries. AT heterozygotes are usually asymptomatic and largely considered healthy carriers, but compared with the general population, they have been reported to be more vulnerable to ionizing radiation and to have a higher risk of diabetes, psoriasis and some types of tumours, in particular breast tumour.

It is here proposed a new functional assay for evaluating mutations in the human ATM gene by measuring the percentage of mitotic cells with p53 localization at the centrosomes (by immunofluorescence technique). At variance with existing tests, this assay unambiguously distinguishes between AT homozygotes and heterozygotes in a very highly sensitive and specific manner.
Based on above, this method allows therefore the identification of AT healthy carriers by the determination of p53 mitotic centrosomal localization within peripheral blood lymphocytes.
To date, all the used techniques for the diagnosis of Ataxia Telangiectasia (AT) are not specific or need specialized laboratories, very long time to be carried out and expensive costs. Due to these factors an appropriated genetic advice is possible only for families wherein an AT affected subject is already present. In addition, to limitations relating to genetic advice, the unavailability of a test for detection of AT carriers is considered a focal point of biomedical research since such subjects have an increased susceptibility to ionizing radiations and higher predisposition to develop cardiovascular pathologies and tumours. AT carriers do not display apparent phenotypic anomalies and therefore are not recognizable in whole population. Unfortunately, this detection failure results in remarkable limits like the inability to detect a pair at risk of generating AT affected subjects; the inability to verify, on statistically significant scale, the risk of healthy carriers, more sensitive to ionizing radiations than normal subjects, to develop some types of tumours (as for example breast and gastric carcinoma) and display higher side-effects as a result of diagnostic or therapeutic treatments requiring the use of ionizing radiations (for example mammography); the inability to carry out screening on the whole population.

The Italian research group looks primarily, for an industrial partner able to industrialize the medical kit and bring it to the market, through license agreements.
Furthermore, other expected cooperation with this partner are: commercial agreements with technical assistance, or research agreements.


Advantages and Innovations:
Unlike currently available complex genomic tests, the proposed test identifies Ataxia Telangiectasia (AT) patients as well as AT carriers by a quick, reliable, and cheap blood test.
Indeed, currently, with the exception of whole ATM gene locus sequencing, which is a high sensitive and specific procedure but also very difficult and expensive, no method is available for this purpose. Furthermore, due to expensive costs, an appropriated genetic advice is possible only for families wherein an AT affected subject is already present.
This innovative method, on the contrary, allows to detect AT carriers in general population and presents several advantages:
- non-invasivity (test can be performed 5 ml of whole blood or less)
- quick analysis (72 hours for lymphocytes purification and stimulation, 1 working-day for immunofluorescence assay and 1-2 hours for microscope readings and cell counting)
- ease of execution
- cheapness (approximately 30 -Y-euro; for a sample, for sample including worker cost)
- sensibility since heterozygotes display a quantitatively intermediate phenotype and, therefore, readily measurable, among normal and AT suffering subjects (AT carriers expressed an intermediate phenotype between healthy donors and AT patients. So it is very easy and significant (P<0.0001) discriminate among the 3 genotypes).
These issues make this technology useful for a large scale screening.
Stage of Development:
Prototype available for demonstration
IPs:
Patents granted
CommeR Statunts Regarding IPR Status:
National patent applied and granted.
Patent extension to EPO

Partner sought

Type and Role of Partner Sought:
The group looks for an industrial partner interested in licence agreements, research cooperation or commercial agreements with technical assistance.
An industrial partner able to industrialize the medical kit and bring it to the market, through license agreements is preferred.
Furthermore, other expected cooperation with this partner are: commercial agreements with technical assistance, or research agreements.
Ideal candidates should be in the field of biomedicine or diagnosis devices.
Other possible partners for research agreements are R-Y-D Institutions or Universities in the aforementioned fields.

Client

Type and Size of Client:
R&D Institution
Already Engaged in Trans-National Cooperation:
Si
Languages Spoken:
English
French
Italian
Spanish

Keywords

Technology Keywords:
06001003 Citología, cancerología, oncología
06001005 Diagnósticos, diagnosis
06002007 Ensayos in vitro, experimentos
06001012 Investigaciones médicas
06001013 Tecnología médica / ingeniería biomédica