EU/3/07/446

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Orphan designation

On 13 April 2007, orphan designation (EU/3/07/446) was granted by the European Commission to Fondazione Telethon, Italy, for autologous CD34+ cells transfected with lentiviral vector containing the human arylsulfatase A cDNA for the treatment of metachromatic leukodystrophy.

For a list of the administrative updates to this public summary of opinion please refer to the PDF document below.

What is metachromatic leukodystrophy?

Metachromatic leukodystrophy is a chronic hereditary disease. It is caused by the lack of an enzyme (a protein that speeds up the conversion of certain substances into other substances) called arylsulfatase A. This causes a toxic accumulation of lipid compounds called sulfatides, particularly in the cells of the nervous system. The nervous system is progressively damaged resulting in symptoms such as walking difficulties, mental deterioration and other symptoms related to the impairment of the nervous system in the affected patients. The disease is chronically debilitating and life-threatening.

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

At the time of designation, metachromatic leukodystrophy affected less than 0.5 in 10,000 people in the European Union (EU). This is equivalent to a total of fewer than 25,000 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 on the basis of data from the European Union (EU 27), Norway, Iceland and Liechtenstein. At the time of designation, this represented a population of 500,300,000 (Eurostat 2007).

What treatments are available?

No satisfactory methods exist that were authorised for the treatment of metachromatic leukodystrophy at the time of application. Only temporary symptomatic treatments were available. In a minority of cases, haematopoetic stem cell transplantation (bone marrow transplantation) has been used as treatment.

How is this medicine expected to work?

The treatment with autologous CD34+ cells transfected with lentiviral vector containing the human arylsulfatase A cDNA includes taking cells called CD34+ cells from the blood of the affected patient and introducing the gene for the lacking enzyme into these cells, outside of the body. To introduce the gene into the cells, a man-made virus (lentiviral vector) is used. The cells are then infused back into the patient, where they are expected to produce and replace the lacking enzyme arylsulfatase A. The replacement of the lacking enzyme is thought to reduce the accumulated sulfatides, thus relieving the symptoms.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, the evaluation of the effects of autologous CD34+ cells transfected with lentiviral vector containing the human arylsulfatase A cDNA in experimental models was ongoing.

At the time of submission of the application for orphan designation, no clinical trials in patients with metachromatic leukodystrophy were initiated.

Autologous CD34+ cells transfected with lentiviral vector containing the human arylsulfatase A cDNA was not authorised anywhere worldwide for the treatment of metachromatic leukodystrophy or designated as orphan medicinal product elsewhere for this condition, at the time of submission.

According to Regulation (EC) No 141/2000 of 16 December 1999, the Committee for Orphan Medicinal Products (COMP) adopted on 8 March 2007 a positive opinion recommending the grant of the above-mentioned 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 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>Autologous CD34+ cells transfected with lentiviral vector containing the human arylsulfatase A cDNA</p>
Active substanceAutologous CD34+ cells transfected with lentiviral vector containing the human arylsulfatase A cDNA
Medicine Name-
Disease/conditionTreatment of metachromatic leukodystrophy
Date of decision13/04/2007
OutcomePositive
Orphan decision numberEU/3/07/446

Review of designation

Sponsor’s contact details

Fondazione Telethon
Via dei Magazzini Generali 18/20
00154 Roma
Italy
Tel. +39 0644 0151
Fax +39 0644 202032
E-mail: info@telethon.it

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.