The technology against rare diseases

Orpha biotech proposes a patented technology for the development of therapeutic solutions applied to rare diseases, addressing pathologies that currently have no cure. In particular, it focuses on products or drugs for the treatment of autoimmune diseases, such as Systemic sclerosis and Juvenile Rheumatoid Arthritis.

He has developed two small molecules for the treatment of progressive cutaneous systemic sclerosis and a peptide for tissue regeneration that finds applications in the field of dermatology and anti-aging. Decades of R&D in the field of rare diseases permitted the identification of the signal transduction pathway of the developed molecules highlighting their mechanism of action involved in various pathologic processes such as wound healing, inflammation, angiogenesis, and metastasis. Structure-based virtual screening and docking simulations have permitted the identification of a panel of 40 small molecules involved in the onset of inflammation and metastasis.

Tailored research on one molecule highlighted one of the molecules developed by Orpha biotech was shown to interfere with the metastatic process in vivo.

About us

The Orpha biotech project focuses on the research and development of molecules directed against rare diseases.
In Europe, a disease is defined as rare if it has a prevalence equal to or less than 5 cases per 10,000 people.

The number of rare diseases is high, the estimates currently number between 5,000 and 8,000, which affect between 6% and 8% of the European population (source: 2015 report, Rare Diseases in the Lazio region).

Rare diseases are often fatal or debilitating diseases and represent 10% of the diseases that afflict humanity.

An application of one of the developed molecules is to target the cutaneous system sclerosis. In studies effectuated on fibroblasts of cutaneous systemic sclerosis patients demonstrated that the former was capable of inhibiting reactive oxygen species formation. Moreover, decades of basic research effectuated by Orpha biotech highlighted that the panel of molecules proposed to target a molecule in which overexpression functions as a biomarker for cancer progression and metastasis in many forms of human malignancy (1). Preclinical studies depicted that the small molecule employed blocked tumor cell invasion in human breast and prostate cancer cells. Pharmacokinetic studies have been completed and clinical trial protocol developed.

Orpha biotech’s solid knowhow in the field and the translational medical network is a breeding ground for the development of therapeutic solutions in an area that currently lacks them.

TARGET MARKET:The company, through its technologies targets the following markets:

  • The rare-diseases market: this market shows a TAM of 131b USD and projects a CAGR of 10.8% on average until 2023

Orphan Diseases

A rare disease is defined as a disease that affects less than one person for every 2,000 inhabitants in Europe.
In the field of rare diseases, there are those ultra-rare or very rare that affects less than one person per million. Furthermore, the scope of orphan diseases is being defined.

Orphan diseases are those diseases that do not represent a common object of research, those for which specific therapies are not available, and those which, due to lack of funds and basic research, are of limited interest to researchers and doctors. As a result, they have been referred to as “orphans” due to the state of abandonment left to patients in the world of medical care.
The common denominator is always that of the rarity of the event characterized by a low frequency in the population and the absence of an effective therapy to combat it.

Orpha biotech carries out research, development, production, and marketing of innovative products in the field of bio-sciences and bio-technologies in particular through molecules that act for therapeutic purposes on rare / orphan diseases; our research concerns products or drugs aimed at treating autoimmune diseases such as Systemic Sclerosis.


The new technology arises from over a decade of basic research describing the mechanisms of action of the proposed model and emphasizing the inhibition of reactive oxygen species in human scleroderma fibroblasts.
The technology is at a preclinical level and has targeted one of the factors directly involved in cutaneous systemic sclerosis: high levels of reactive oxygen species and oxidative stress.

Furthermore, Orpha biotech also offers an innovative solution in the field of tissue regeneration, proposing a peptide for the regeneration of damaged tissues.


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