The International Association of Relatives and People Affected by Lipodystrophy AELIP, has submitted a motion to the Councillor for Health of the Municipality of Totana urging the Ministry of Health to guarantee the supply of and equal access to metreleptine by the National Health System.
Lipodystrophy is an ultra-rare and chronic disease, made up of a group of congenital or acquired disorders associated with the loss of adipose tissue. A classification can be made according to their aetiology, being congenital (genetic) or acquired, and according to their anatomical location, being able to be generalized, partial or localized.
Lipodystrophy is an ultra-rare disease with a worldwide prevalence of 0.2-1.0 cases/million for the generalized form and 1.7-2.8 cases/million for the partial form (Chiquette 2017). In the only Spanish Reference Center for Lipodystrophy, 99 patients have been detected with lipodystrophy, being 19 patients with generalized lipodystrophy and 80 with partial lipodystrophy (Data Dr. Araujo-Vilar 2018).
The lack of subcutaneous adipose tissue decreases the level of leptin in the body and the capacity to store lipids, so that they accumulate abnormally in other organs. Lack of leptin causes early development of serious metabolic disorders such as insulin resistance (diabetes), hypertriglyceridemia, hepatic steatosis, pancreatitis, renal and cardiovascular disorders, etc. leading to impaired quality of life and early death (Brown 2016, Araujo-Vilar 2018).
The average age of death in lipodystrophic patients is lower than the general population, being 12 years for patients with generalized congenital lipodystrophy, 32 years for generalized acquired lipodystrophy, 28 years for partial familial lipodystrophy and 23 years for partial acquired lipodystrophy (Gupta 2017).
The therapeutic approach to lipodystrophy has a double aspect, on the one hand, the prevention and treatment of associated metabolic and cardiovascular disorders, and on the other hand, the cosmetic treatment produced by the loss and/or accumulation of adipose tissue.
Metreleptine (Myalepta) is an orphan drug. It is the first and only drug authorized in Europe for the treatment of lipodystrophies since July 2018.
Metreleptine is a recombinant human leptin analogue and is indicated, together with diet, as a restorative treatment for treating complications arising from a leptin deficit in patients with
- Confirmed generalized acquired lipodystrophy (Lawrence syndrome) or generalized congenital lipodystrophy (Beradinelli-Seip syndrome), in adults and children ≥ 2 years.
- Familial partial lipodystrophy or partial acquired lipodystrophy (Barraquer Simons syndrome) confirmed, in adults and children of ≥ 12 years for whom the usual treatments have not achieved adequate metabolic control.
The Spanish Federation of Rare Diseases (FEDER) has urgently called for a response to the serious situation suffered by many people with rare diseases regarding equitable access to Orphan Drugs (MMHH). These drugs represent a unique opportunity for patients who usually have no therapeutic alternatives or whose classic treatment could be of little use (FEDER News Portal: https://enfermedades-raras.org/index.php?option=com_content&view=article&id=2791&Itemid=999)
From FEDER, it was reported that there are currently significant delays in the access of those affected to MMHH due to the lack of specific and additional funding for hospitals that have to start each treatment and bear the high cost of these drugs.
The public financing model for orphan drugs currently in force in Spain is a decentralized management model in which authorization decisions are made by the Spanish Agency for Medicines and Healthcare Products (AEMPS) and financing decisions are made by the Ministry of Health, Social Services and Equality (MSSSI) (more specifically, the Department of Pharmacy). After this, the price is set by the Interministerial Commission on Drug Prices (CIPM) and the orphan drug is made available to the health services of the various Autonomous Communities, which are responsible for its management and rational use (ERDF News Portal: https://enfermedades-raras.org/index.php/actualidad/3717-feder-participara-en-un-congreso-de-medicamentos-huerfanos-2)
According to the Spanish Association of Orphan and Ultra-Orphan Drug Laboratories (AELMHU), only 54% of the MMHH with marketing authorization from the European Union are finally marketed in Spain, that is, 58 of 108 (News Portal: https://aelmhu.es/index.php/actividades/eventos-aelmhu/item/909-aelmhu-presenta-los-datos-de-acceso-a-los-medicamentos-huerfanos-en-espana).
In addition, the time from assignment of the National Code to marketing was 13.4 months, during the period 2002-2017 (Mestre-Ferrándiz 2019). And according to data from AELMHU, the time from the assignment of the National Code to the effective commercialization has worsened by 3.8 months more (average) and 3.5 months more (median), compared to the data of 2018 (News Portal: https://aelmhu.es/index.php/actividades/eventos-aelmhu/item/909-aelmhu-presenta-los-datos-de-acceso-a-los-medicamentos-huerfanos-en-espana).
Therefore, it is urged that equitable access to this orphan drug for an ultra rare disease like this be guaranteed.
The president of AELIP Naca Eulalia Perez de Tudela Canovas through this request requests: To urge the Ministry of Health to speed up the necessary procedures to guarantee the supply by the National Health System of the only treatment authorized in Europe for the treatment of lipodystrophy, metreleptine, guaranteeing access in equity and equality to all patients who need it in the different autonomous communities of Spain.
