EU/3/17/1963 - orphan designation for treatment of LIPIN1 disease
hydroxychloroquine sulfate
Orphan
Human
Overview
On 17 January 2018, orphan designation (EU/3/17/1963) was granted by the European Commission to Professor Pascale De Lonlay, France, for hydroxychloroquine sulphate for the treatment of LIPIN1 disease.
The sponsorship was transferred to Imagine Institut Des Maladies Genetiques Necker Enfants Malades, France in December 2020.
LIPIN1 disease is a condition that causes regular bouts of rhabdomyolysis (where muscles tissue is broken down), resulting in muscle pain and weakness. Patients may also have kidney and heart problems. The condition usually starts in childhood and is caused by a mutation (change) in a gene responsible for making a protein known as lipin-1, which is needed for muscles to function normally. Patients with the mutation cannot produce the protein properly.
LIPIN1 disease is debilitating and life threatening because of complications of rhabdomyolysis such as cardiac arrest (when the heart suddenly stops beating) or kidney failure.
At the time of designation, LIPIN1 disease affected approximately 0.0005 in 10,000 people in the European Union (EU). This was equivalent to a total of around 20 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 515,700,000 (Eurostat 2017).
No satisfactory methods were authorised in the EU for treatment of LIPIN1 disease at the time of application. Patients with rhabdomyolysis were given with fluids and had their heart and blood levels of minerals monitored regularly.
This medicine targets a receptor known as Toll-like receptor 9 (TLR9), which is involved in stimulating the inflammatory reactions associated with rhabdomyolysis. By attaching to this receptor, the medicine is expected to reduce TLR9 action and so help relieve symptoms of rhabdomyolysis in patients with LIPIN1 disease.
The effects of the medicine have been evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with LIPIN1 disease had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for LIPIN1 disease or designated as an orphan medicinal product elsewhere for this condition.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 7 December 2017 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
- hydroxychloroquine sulfate
- Intended use
- Treatment of LIPIN1 disease
- Orphan designation status
- Positive
- EU designation number
- EU/3/17/1963
- Date of designation
- Sponsor
Imagine Institut Des Maladies Genetiques Necker Enfants Malades
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: