EU/3/13/1193 - orphan designation for treatment of Allan-Herndon-Dudley syndrome
3,5-diiodothyropropionic acid
OrphanHuman
Overview
On 7 October 2013, orphan designation (EU/3/13/1193) was granted by the European Commission to CATS Consultants GmbH, Germany, for 3,5-diiodothyropropionic acid for the treatment of Allan-Herndon-Dudley syndrome.
Allan-Herndon-Dudley syndrome is a brain disorder marked by impaired brain development and intellectual disability. Other symptoms include weak muscle tone, impaired muscle development, poor head control and faulty or involuntary movements. The symptoms start in early childhood.
The condition, which is seen only in boys, is caused by a defective gene for a protein called MCT8 which transports the thyroid hormone T3 into nerve cells, where this hormone is needed for normal nerve development. Only boys are affected because the faulty genes are found only on the X chromosomes and as boys have only one X chromosome, a single copy of the gene is enough to cause the condition. In girls, who have two X chromosomes, a second undamaged copy of the gene can compensate for the faulty one.
Allan-Herndon-Dudley syndrome is a long-term debilitating and life-threatening condition because of its effects on the nervous system and is associated with poor survival.
At the time of designation, Allan-Herndon-Dudley syndrome affected approximately 0.2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 10,000 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 on the basis of data from the European Union (EU 28), Norway, Iceland and Liechtenstein. This represents a population of 512,200,000 (Eurostat 2013).
No satisfactory methods of treatments for Allan-Herndon-Dudley syndrome were authorised in the EU at the time of orphan designation.
This medicine has a similar structure and works in the same way as the thyroid hormone T3. The difference is that, unlike T3, it is believed to be able to enter developing nerve cells without the MCT8 transporter protein. As the MCT8 protein is faulty in patients with Allan-Herndon-Dudley syndrome, the medicine is expected to help overcome the body's inability to transport the hormone into the nerves, thereby allowing the nerves to develop properly and relieving symptoms of the disease.
The sponsor has provided clinical and non-clinical data from the published literature to support its application for orphan designation.
At the time of submission of the application for orphan designation, no clinical trials with 3,5-diiodothyropropionic acid in patients with Allan-Herndon-Dudley syndrome had started.
At the time of submission, 3,5-diiodothyropropionic acid was not authorised anywhere in the EU for Allan-Herndon-Dudley syndrome. Orphan designation of 3,5-diiodothyropropionic had been granted in the United States for Allan-Herndon-Dudley syndrome.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 4 September 2013 recommending the granting of this designation.
- 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
- Active substance
- 3,5-diiodothyropropionic acid
- Intended use
- Treatment of Allan-Herndon-Dudley syndrome
- Orphan designation status
- Positive
- EU designation number
- EU/3/13/1193
- Date of designation
- Sponsor
CATS Consultants GmbH
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
EMA list of opinions on orphan medicinal product designation
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
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.
EU register of orphan medicines
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: