EU/1/08/544

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Orphan designation

On 8 May 2008, orphan designation (EU/1/08/544) was granted by the European Commission to Santhera Pharmaceuticals (Deutschland) GmbH, Germany, for omigapil maleate for the treatment of congenital muscular dystrophy with merosin (laminin alpha 2) deficiency.

The name of the sponsor changed to Santhera Pharmaceuticals (Deutschland) GmbH in September 2010.

What is congenital muscular dystrophy with merosin (laminin alpha 2) deficiency?

Congenital muscular dystrophies (CMD) are a group of hereditary disorders, frequently presenting at birth or within the first six months of life. There are many different forms of CMDs and each form is caused by a specific defect in a gene. All forms of CMD share some symptoms and signs; such as weakness and degeneration of muscles, contractures and joint deformities. Usually CMD leads to difficulty in movement, skeletal deformation (scoliosis) and respiratory failure. Mental retardation is sometimes present. The most common form of CMD is caused by a deficiency of a protein called laminin alpha 2 (also called merosin). Laminins are found in tissues where they provide support to the cells and they also have other functions such as protecting the cells from dying. Laminin alpha 2 supports muscle cells and a deficiency of laminin alpha 2 in muscle tissue leads to increased muscle cell death and progressive muscle weakness. Congenital muscular dystrophy with merosin (laminin alpha 2) deficiency is a chronically debilitating and life-threatening disease.

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

At the time of designation, congenital muscular dystrophy with merosin (laminin alpha 2) deficiency affected approximately 0.04 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 2,000 people, and is below the ceiling 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 27), Norway, Iceland and Lichtenstein. This represents a population of 502,282,135 (Eurostat 2008). This estimate is based on available information and calculations presented by the sponsor at the time of the application.

What treatments are available?

No satisfactory methods exist that were authorised at the time of application.

How is this medicine expected to work?

The exact mechanism of action of omigapil maleate is not known. However, it is thought that the product interacts with a protein called glyceraldehyde 3-phosphate dehydrogenase, which is involved in cell death. By interacting with this protein, omigapil maleate may protect muscle cells from dying.

What is the stage of development of this medicine?

The effects of omigapil maleate were evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials in patients with congenital muscular dystrophy with merosin (laminin alpha 2) deficiency were initiated.

Omigapil maleate was not authorised anywhere worldwide for congenital muscular dystrophy with merosin (laminin alpha 2) deficiency 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 4 March 2008 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>Omigapil maleate</p>
Active substanceOmigapil maleate
Medicine Name
Disease/conditionTreatment of congenital muscular dystrophy with merosin (laminin alpha 2) deficiency
Date of decision08/05/2008
OutcomePositive
Orphan decision numberEU/1/08/544

Review of designation

Sponsor’s contact details:

Santhera Pharmaceuticals (Deutschland) GmbH
Wallbrunnstr.24
79539 Lörrach
Germany
Telephone: +49 7621 1690 200
Telefax: +49 7621 1690 201
E-mail: klaus.schollmeier@santhera.com

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.