On 1 April 2008, orphan designation (EU/3/08/531) was granted by the European Commission to Murigenetics SAS, France, for ascorbic acid for the treatment of Charcot-Marie-Tooth disease type 1A.
- What is Charcot-Marie-Tooth disease type 1A?
The Charcot-Marie-Tooth disease (CMT) is an inherited disorder of the nervous system. The disease is chronic and progressively degenerative. The CMT is classified in 5 groups and one of them, CMT1, is by far the most common form. The symptoms include muscle weakness, tremor and sensory loss (identifiable as numbness, tingling, burning sensation). The onset of the disease is commonly in the first or the second decade. Approximately 70%-80 % of CMT1 patients have the type called CMT1A, which is caused by a genetic defect of the PMP22 gene (a unit of genetic material) that is thought to function in the building of myelin on nerve cells. Myelin consists of fat and protein and insulates some parts of nerve cells and makes the signals travel faster along the nerve cell.
- What is the estimated number of patients affected by the condition?
At the time of designation, Charcot-Marie-Tooth disease type 1A affected approximately 1 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 50,000 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 498,000,000 (Eurostat 2006). 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. The only treatments were rehabilitation or corrective surgery.
- How is this medicine expected to work?
Ascorbic acid is expected to be helpful in CMT1A due to its mechanism of action on a messenger molecule called cyclic adenosine monophosphate (cAMP). In CTM1A there are high levels of PMP22 protein and it is expected that by reducing the levels of PMP22 protein, the symptoms of the disease will improve. Ascorbic acid is thought to reduce the levels of PMP22 protein through its actions on PMP22 gene and cAMP, thus improving the symptoms of the disease.
- What is the stage of development of this medicine?
The effects of ascorbic acid were evaluated in experimental models.
At the time of submission of the application for orphan designation, clinical trials in patients with Charcot Marie Tooth 1A disease were ongoing.
The medicinal product was not authorised anywhere worldwide for treatment of Charcot-Marie-Tooth disease type 1A 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 6 February 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
|Name||Language||First published||Last updated|
|EU/3/08/531: Public summary of positive opinion for orphan designation of ascorbic acid for the treatment of Charcot-Marie-Tooth disease type 1A||(English only)||10/07/2008||11/11/2011|
|Active substance||Ascorbic acid|
|Disease/condition||Treatment of Charcot-Marie-Tooth disease type 1A|
|Date of decision||01/04/2008|
|Orphan decision number||EU/3/08/531|
Review of designation
Sponsor’s contact details:
10 rue Clapier
Telephone: +33 68 35 76 054
Telefax: +33 491 324 387
Patients’ associations contact points:
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.