EU/3/16/1646 - orphan designation for treatment of multiple symmetric lipomatosis
4-hydroxyandrostenedione
Serenoa serrulata
alpha lipoic acid
OrphanHuman
Overview
On 28 April 2016, orphan designation (EU/3/16/1646) was granted by the European Commission to Dr. Regenold GmbH Development Regulatory Market Access, Germany, for a combination of 4-hydroxyandrostenedione (also called formestane), Serenoa serrulata fruit extract and alpha lipoic acid (also called thioctic acid) for the treatment of multiple symmetric lipomatosis.
In July 2017, Dr. Regenold GmbH Development Regulatory Market Access changed name to Dr. Regenold GmbH.
The sponsor's name was updated in September 2021.
Multiple symmetric lipomatosis is a disorder of the way in which parts of the body produce and store fat. As a result, large symmetrical masses of fat build up under the skin of the neck, shoulders and upper arms. These can result in disfigurement and symptoms such as nerve damage and pain, muscle cramps, increased heart rate, excessive sweating, impotence, reduced blood flow to the hands, deep ulcers and deformity of the fingers. The disease affects mostly men and is thought to be associated with alcohol abuse.
Multiple symmetric lipomatosis is long-term debilitating and life threatening, with a reduction in life-expectancy and an increased risk of sudden death.
At the time of designation, multiple symmetric lipomatosis affected approximately 0.3 in 10,000 people in the European Union (EU). This was equivalent to a total of around 15,000 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).
At the time of designation, no satisfactory methods were authorised in the EU for the treatment of multiple symmetric lipomatosis. Patients were encouraged to abstain from alcohol. Surgery or liposuction were sometimes used to reduce the fat masses and provide temporary relief of symptoms caused by the fat pressing on other tissues. Some patients with early-stage disease were also given the medicine salbutamol.
The medicine is being developed as a cream that contains 3 active substances. The substance 4-hydroxyandrostenone and the extract of Serenoa serrulata (saw palmetto) fruit work in different ways to alter the balance of sex hormones in fat cells beneath the skin and reduce the build-up of fat. The antioxidant alpha lipoic acid helps to control substances called free radicals that can damage cells and may be involved in the disease process. By applying the cream to the affected areas, it is expected that the absorbed active substances will reduce the build-up of fat in multiple symmetric lipomatosis.
The effects of each component in 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 multiple symmetric lipomatosis were ongoing.
At the time of submission, the medicine was not authorised anywhere in the EU for multiple symmetric lipomatosis or designated as an orphan medicinal product elsewhere for this condition. The individual active substances have been approved separately in some EU member states for other uses.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 23 March 2016 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
- 4-hydroxyandrostenedione
- Serenoa serrulata
- alpha lipoic acid
- Intended use
- Treatment of multiple symmetric lipomatosis
- Orphan designation status
- Positive
- EU designation number
- EU/3/16/1646
- Date of designation
- Sponsor
Regenold 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:
European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.
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: