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Orphan designation

On 28 October 2005, orphan designation (EU/3/05/326) was granted by the European Commission to Digna Biotech S.L., Spain, for peptide 144 TGF-beta1-inhibitor (TSLDASIIWAMMQN) for the treatment of systemic sclerosis.

What is systemic sclerosis?

Systemic sclerosis involves the abnormal growth of connective tissue, which supports the skin and internal organs. The abnormal growth is due to too much production of a protein called collagen. The disease not only includes the skin, but also involves the tissues around the blood vessels and major organs. Systemic sclerosis is typically broken down into diffuse and limited disease. In diffuse form, the skin becomes thicker over much of the body, such as the upper arms, upper legs, chest, and stomach. Inside the body, the disease can damage key organs such as the heart, lungs, and kidneys. The limited form typically affects the skin only in certain areas: the fingers, hands, face, lower arms, and legs. Many people with limited disease have Raynaud's phenomenon (a condition in which the small blood vessels of the hands and/or feet contract in response to cold or anxiety: they turn white and cold, then blue) for years before the skin starts to become thicker. People with limited disease are more prone to develop hypertension of the heart-lung circulation (pulmonary hypertension) than people with diffuse disease. Due to the thicker skin and the damage to key internal organs, the disease is considered seriously debilitating and potentially life-threatening.

What is the estimated number of patients affected by the condition?

At the time of designation, systemic sclerosis affected not more than 2 in 10,000 people in the European Union (EU)*. This is equivalent to a total of not more than 92,000 people, and is below the threshold for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).

* Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed based on data from the European Union (EU 25), Norway, Iceland and Lichtenstein. This represents a population of 459,700,000 (Eurostat 2004).

What treatments are available?

There is no treatment that stops the build-up of collagen. Available treatment is aimed at relieving symptoms and limiting damage. Several products with anti-inflammatory activity (products that limit the reaction of tissues against damage) were authorised for the condition in some countries in the Community at the time of submission of the application for orphan drug designation. Peptide 144 TGF-beta1-inhibitor (TSLDASIIWAMMQN) might be of potential significant benefit for the treatment of systemic sclerosis in particular because it may act differently from other medicinal products. This benefit will have to be confirmed at the time of marketing authorisation and will be necessary to maintain the orphan status.

How is this medicine expected to work?

Transforming growth factor beta-1 (TGF- β1) is a substance secreted by cells in the human body that plays a role in the formation of the abnormal growth of connective tissue (fibrosis). Peptide 144 TGF-ß1-inhibitor (TSLDASIIWAMMQN) is expected to stop the activation of this substance and thereby it might stop or reduce the production of connective tissue (fibrosis) and thus reduce the thickness of the skin.

What is the stage of development of this medicine?

The effects of peptide 144 TGF-beta1-inhibitor (TSLDASIIWAMMQN) were evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials in patients with systemic sclerosis were initiated.
The medicinal product was not authorised anywhere worldwide for systemic sclerosis or designated as orphan medicinal product elsewhere for this condition, at the time of submission.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 9 September 2005 recommending the granting of this designation.

Opinions on orphan medicinal products designations are based on the following cumulative criteria:
  • the seriousness of the condition, 
  • the existence of alternative methods of diagnosis, prevention or treatment and
  • either the rarity of the condition (affecting not more than 5 in 10,000 people in the European Union) or insufficient returns on investment.

Designated orphan medicinal products are products that are still under investigation and are considered for orphan designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.

Key facts

Product details for <p>Peptide 144 TGF-beta1-inhibitor (TSLDASIIWAMMQN)</p>
Active substancePeptide 144 TGF-beta1-inhibitor (TSLDASIIWAMMQN)
Medicine Name
Disease/conditionTreatment of systemic sclerosis
Date of decision28/10/2005
Orphan decision numberEU/3/05/326

Review of designation

Sponsor’s contact details:

Digna Biotech S.L.
Avenida Pio XII, 22 
Oficina 2 
31008 Pamplona 
Telephone: +34 91 18 52 510
Telefax: +34 91 18 52 519

Patients’ associations contact points:

Raynaud's & Scleroderma Association
112 Crewe Road
Cheshire ST7 2JA
United Kingdom
Telephone: +44 12 70 87 27 76
Telefax: +44 12 70 88 35 56

ASF: Association des Sclérodermiques de France
11 Rue d'Arras
62217 Tilloy-les-Mofflaines
Telephone: +33 3 21 24 18 72
Telefax: +33 3 21 22 65 77

AILS : Associazione Italiana Lotta alla Sclerodermia
Via Scrima 29
60127 Ancona
Telephone: +39 02 89 12 04 68 and +39 02 89 15 34 69
Telefax: +39 02 89 12 04 68