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Orphan designation

On 27 June 2016, orphan designation (EU/3/16/1671) was granted by the European Commission to Coté Orphan Consulting UK Limited, United Kingdom, for 2'-O-(2-methoxyethyl) phosphorothioate antisense oligonucleotide targeting the growth hormone receptor (also known as ATL1103) for the treatment of acromegaly.

The sponsorship was transferred to Quintiles Ireland Limited, Ireland, in March 2018.

In May 2018 the sponsor, Quintiles Ireland Limited changed name to IQVIA RDS Ireland Limited.

What is acromegaly?

Acromegaly is a disease in which the pituitary gland, a small gland located at the base of the brain, produces too much growth hormone, leading to excess growth of body tissues and organs. Acromegaly usually affects adults in middle age. In over 90% of patients, it is caused by a benign (non-cancerous) tumour of the pituitary gland called a pituitary adenoma. The most common signs of the disease include large hands and feet, enlarged nose, lips and tongue, coarse skin with skin tags and joint aches. The disease can result in serious complications, such as severe damage to the joints and problems affecting the cardiovascular (heart and blood vessels) and respiratory (breathing) systems.

Acromegaly is a long-term debilitating and life-threatening disease because of the abnormal growth it causes in tissues and organs in the body, which leads to respiratory problems and cardiovascular disease.

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

At the time of designation, acromegaly affected less than 1.5 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 77,000 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This isbased 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 on the basis of data from the European Union (EU 28), Norway, Iceland and Liechtenstein. This represents a population of 513,700,000 (Eurostat 2016).

What treatments are available?

At the time of designation, several medicines were authorised in the EU to treat acromegaly, including somatostatin analogues (medicines that block the release of growth hormone) such as octreotide and lanreotide, and pegvisomant (a medicine that blocks the effects of growth hormone). Other treatments included surgery and, in rare cases, radiotherapy (treatment with radiation).

The sponsor has provided sufficient information to show that this medicine might be of significant benefit for patients with acromegaly. This is based on laboratory studies showing that the medicine may lead to greater reductions in the blood levels of growth-related hormones than with some of the currently authorised products and it may also be used in combination with other medicines. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

How is this medicine expected to work?

This medicine is an ‘antisense oligonucleotide’, a small strand of synthetic genetic material. It has been designed to attach to the genetic material of cells responsible for producing the human growth hormone receptor, blocking its production. Growth hormone needs to attach to this receptor to have its effect. By blocking production of the receptor, the medicine is expected to prevent growth hormone from having an effect, thereby improving the symptoms of the disease.

What is the stage of development of this medicine?

The effects of this medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with acromegaly were ongoing.

At the time of submission, this medicine was not authorised anywhere in the EU for acromegaly. Orphan designation of the medicine has been granted in the United States for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 19 May 2016 recommending the granting of this designation.

Opinions on orphan medicinal product designations are based on the following three criteria:
  • the seriousness of the condition;
  • the existence of alternative methods of diagnosis, prevention or treatment;
  • either the rarity of the condition (affecting not more than 5 in 10,000 people in the EU) 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>2'-O-(2-Methoxyethyl) phosphorothioate antisense oligonucleotide targeting the growth hormone receptor</p>
Active substance2'-O-(2-Methoxyethyl) phosphorothioate antisense oligonucleotide targeting the growth hormone receptor
Medicine Name
Disease/conditionTreatment of acromegaly
Date of decision27/06/2016
Orphan decision numberEU/3/16/1671

Review of designation

Sponsor’s contact details

IQVIA RDS Ireland Limited
Estuary House
East Point Business Park
Dublin 3
Tel. +353 1819 5100

Patients’ organisations

For contact details of patients’ organisations whose activities are targeted at rare diseases, see:

  • Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe;
  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.