Glossary

Alprolix
Alprolix (eftrenonacog alfa) is a recombinant, extended halflife clotting factor therapy under development for people with haemophilia B. Alprolix is the first recombinant, clotting factor therapy with prolonged circulation in the body, that has been approved for adults and children with haemophilia B in the US, Canada, Australia, New Zealand and Japan. A marketing authorisation application for Alprolix in EU was submitted to the EMA in June 2015.

Biopharmaceutical
A protein based drug derived from living cells cultured in a laboratory.

CAPS
Cryopyrin-associated periodic syndromes, CAPS, constitutes a group of rare autoinflammatory diseases with an incidence estimated to be 1:1,000,000 worldwide. CAPS is characterised by uncontrolled overproduction of interleukin-1 (IL-1) which induces a number of inflammatory responses such as fevers, rash, joint pain, headaches, conjunctivitis and many other symptoms.

CHMP
The Committee for Medicinal Products for Human Use at the European Medicines Agency (EMA). 

Dupuytren’s contracture
Dupuytren’s contracture is a condition where one or more fingers are bent forwards  toward the palm and cannot be fully straightened. It is caused by a thickening of the tissues under the skin of the palm that form ‘cords’ pulling down on the fingers.

EHL
Extended half-life.

EHC
European Haemophilia Consortium, a non-profit organisation representing national patient organisations of people with rare bleeding disorders in Europe. 

Elocta
Elocta (efmoroctocog alfa) is the first recombinant, clotting factor VIII therapy with prolonged circulation in the body. The product is approved in the EU for the treatment and prophylaxis of bleeding episodes in patients with haemophilia A (factor VIII deficiency) and can be used by people of all ages. 

EMA
European Medicines Agency. 

EMENAR
A business region including Europe, Middle East, North Africa and Russia.

FDA
US Food and Drug Administration. 

Haemophilia
Haemophilia is a rare, genetic disorder in which the ability of a person’s blood to clot is impaired. Haemophilia A occurs in about one in 5,000 male births annually, and haemophilia B occurs in about one in 25,000 male births annually. Both occur more rarely in females. People with haemophilia experience bleeding episodes that may cause pain, irreversible joint damage and life-threatening haemorrhages. 

HT-1
Hereditary tyrosinaemia type 1 (HT-1) is a rare genetic disorder that can cause liver failure, kidney dysfunction and neurological problems and can be fatal if left untreated.

HTA

Health technology assessment is the systematic evaluation of the properties and effects of a health technology.

IL-1
Interleukin-1 (IL-1) is a key mediator of inflammation and driver of autoinflammatory diseases. 

Kineret
Kineret (anakinra) is a drug used to treat inflammatory diseases. 

MAA
Marketing authorisation application, an EU-application for approval to market a medical product. 

MAH
Marketing authorisation holder, the company in whose name the marketing authorisation has been granted and who is responsible for all aspects of the product. 

MPS IIIA
Sanfilippo syndrome (MPS IIIA) is a genetic disorder that belongs to a group of metabolic disorders known as mucopolysaccharidoses (MPS diseases). These are rare metabolic disorders caused by the absence of various lysosomal enzymes, which are needed to break down various molecules in the body. MPS IIIA causes the substance sulfamidase that is normally broken down by the enzyme to accumulate in the body and damage the organs. MPS IIIA can be fatal. 

NOMID
Neonatal-onset multisystem inflammatory disease, the most severe form of CAPS, also associated with chronic meningitis, hearing loss, craniofacial abnormalities, bone lesions and increased mortality. 

NPU
Named patient use. A request for treatment intended for patients with a life threatening, chronic or seriously debilitating disease, where there is no other satisfactory treatment option with medicinal products authorised in their country. 

Orfadin
Orfadin (nitisinone) is a drug used to treat hereditary tyrosinaemia type 1 (HT-1). 

PC3
Patient and Customer-Centric approach to Commercialisation, Sobi’s commitment to support and understand the patient needs at all stages of the patient journey, and engaging with all the stakeholders surrounding the rare disease patient to ensure that our products are developed and continuously supported in a way that give the patients the best chance of timely access and benefit of treatments. 

Peyronie’s disease
Peyronie’s disease is a condition that involves the development of collagen plaque, or scar tissue, on the shaft of the penis. The scar tissue, known as a Peyronie’s plaque, may harden and reduce flexibility, which may cause bending or arching of the penis during erection.

Still’s disease
Still’s disease is an autoinflammatory disease that affects both children and adults, and is characterised by persistent high spiking fevers, recurring rashes and arthritis. Still’s disease is also known as systemic-onset juvenile idiopathic arthritis (SJIA) or adult-onset Still’s disease (AOSD).

UCD
Urea cycle disorders are a group of serious conditions in which patients suffer from deficiencies in the enzymes required to remove ammonia from the blood stream. 

Xiapex
Xiapex (collagenase clostridium histolyticum), is a pharmacological treatment for Dupuytren’s contracture and Peyronie’s disease.

XTEN
XTEN is a DNA-based hydrophilic polymer that increases the hydrodynamic radius of target proteins with the goal of extending the half-life of those proteins. 

WFH
World Federation of Hemophilia, an international not-for-profit organisation.