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Medicamento curativo para enfermedades genéticas causadas por mutaciones sin sentido


Oferta Tecnológica
Una oficina francesa de transferencia de tecnología, que representa a importantes laboratorios de biología de la región parisina, ofrece un nuevo medicamento que trata la causa principal de las enfermedades genéticas debidas a mutaciones sin sentido. Las mutaciones sin sentido son responsables de un 10% de las enfermedades genéticas, principalmente de la fibrosis quística. Este tratamiento transforma la proteína con esta mutación en una proteína funcional completa y permite una recuperación total. El laboratorio ha extraído un nuevo ingrediente de un hongo específico y lo ha empleado como principio activo de un nuevo medicamento. Aplicado en la fibrosis quística, este ingrediente permite que el ribosoma transcriba correctamente el mRNA. La oficina busca compañías farmacéuticas o biotecnológicas con el fin de establecer acuerdos de licencia o cooperación técnica, así como inversores del sector de biotecnología para alcanzar acuerdos financieros.


Curative drug for genetic diseases due to nonsense mutation to be transfered by a French Technology Transfer Office
A French Technology Transfer Office (TTO) offers an new treatment dealing with the primary cause of genetic diseases due to nonsense mutation. It turns the protein with such a mutation into a complete functional protein, which allows to consider a full recovery. The French TTO is looking for pharmaceutical corporates or biotech companies interested by a licensing or a technical cooperation agreement. Investors operating in biotechnology are also targeted in the context of a financial agreement.
A Technology Transfer Office (TTO) is acting on behalf some major life sciences research labs operating in the Paris region. One of them has demonstrated the mechanism of action of a new orally-administered molecule as a curative treatment for genetic disorders due to nonsense mutations. The proof of concept has been performed on cystic fibrosis, and is under investigation for other nonsense mutations.

*Definitions :
- The Messenger Ribonucleic Acid (mRNA) is a temporary and unfinished copy of the Desoxyribonucleic Acid (DNA) which lies in nucleus cells and contains all genetic properties of a whole living subject,
- the ribosom is the cell part which transcripts the mRNA and produces a full-length protein according to the transcripted information,
- a nonsense mutation is the resulting point from a failing DNA where genetic information is missing and so-replaced by a premature stop signal in the mRNA.

*Market challenges :
Nonsense mutations are responsible for 10% of all genetic diseases, mainly for cystic fibrosis whose symptoms are acute respiratory failure and digestive capacity impairment. The number of patients with this severe chronic disease is about 30,000 in United States and 40,000 in Europe (7,000 in France). Until now, there is no curative treatment but only symptomatic relief procedures which needs a strong coordination between several medical specialties such as physiotherapy, nutrition and clinical psychology.

* State of the art :
Among all genetic diseases due to nonsense mutation, Duchenne Muscular Dystrophy (DMD) is the only one to benefit from an existing curative treatment using ataluren drug. Nevertheless, clinical investigation using ataluren hasn´t shown any significant impact on other nonsense mutation diseases. Indeed, the biological target of ataluren is not known, and its mechanism of action is uncertain : it is thought to make ribosomes less sensitive to premature stop signals but it hasn´t been proved until now.

* Proposed technology :
A new ingredient has been extracted from a specific fungus, and used as the active principle of an innovative drug. Applied to cystic fibrosis, it has been proved to enable the ribosom to correctly transcript the mRNA without any disruption due to nonsense mutation. Doing so, it allows the production of a full-length and functional protein.

The French TTO is looking for pharmaceutical corporates, biotech companies and startups interested by a licensing agreement. A technical cooperation agreement is also open to be discussed in case of further investigation on cystic fibrosis or other genetic disesases due to nonsense mutation. Investors operating in biotechnology are also sought in case they are interested in a startup creation.

*Keywords : genetic disorder, nonsense mutation, exon skipping, cystic fibrosis.
Advantages and Innovations:
The innovative drug enables the ribosom to correctly transcript the mRNA without any disruption due to nonsense mutation. Doing so, it can be used as a treatment for genetic diseases due to nonsense mutation such as cystic fibrosis.

*Advantages :

- Compared to ataluren, the new drug is 2.5 times more efficient when used as an indication for cystic fibrosis, leading to a 80% production ratio of full-length and functional proteins (see figure),

- the new drug delivery process is much patient-friendly as compared to ataluren (oral pill versus needle injection),

- the active principle is easily available, since the fungus extract as well as the molecule have been clearly identified,

- the mechanism of action could be transfered to other genetic diseases due to nonsense mutation.
Stage of Development:
Under development/lab tested
Patent(s) applied for but not yet granted
CommeR Statunts Regarding IPR Status:
Priority patent application filed in 2016.

Partner sought

Type and Role of Partner Sought:
The partner sought could be a pharmaceutical corporate, biotech company or startup operating in the drug design for genetic diseases due to nonsense mutation (cystic fibrosis or others), which may be interested by a licence agreement.

These companies may also be interested by a technical cooperation agreement in case of further development or co-development, such as in vivo trials dealing with other genetic disease different from cystic fibrosis.

Moreover, investors operating in biotechnology could be interested by a financial agreement in the context of creating a new startup company.


Type and Size of Client:
Industry SME 11-49
Already Engaged in Trans-National Cooperation:
Languages Spoken:


Technology Keywords:
06002009 Diseño molecular
06002007 Ensayos in vitro, experimentos
06002004 Ingeniería de proteínas
06001015 Productos farmacéuticos / medicamentos