EU/3/13/1183

On 5 August 2013, orphan designation (EU/3/13/1183) was granted by the European Commission to QOL Therapeutics EU Ltd, United Kingdom, for sacrosidase for the treatment of congenital sucrase-isomaltase deficiency.

In March 2014, QOL Therapeutics EU Ltd changed name to QOL Therapeutics UK Ltd.

For a list of the administrative updates to this public summary of opinion please refer to the PDF document below.

What is congenital sucrase-isomaltase deficiency?

Congenital sucrase-isomaltase deficiency is a disease caused by defects in the gene for sucrase-isomaltase, an enzyme involved in breaking down sucrose (sugar) and starch in the intestines. Patients with this disease do not have enough of the correctly functioning enzyme and therefore cannot break down the sucrose and starch in their diet. This leads to a build-up of sucrose and starch in the gut, which can cause severe gastrointestinal symptoms. It also stops the patient from absorbing these nutrients, leading to long-term malnutrition and failure to thrive and develop.

Congenital sucrase-isomaltase deficiency is a long-term debilitating disease as patients fail to thrive and develop normally. It can also cause kidney stones and high calcium levels in the kidneys and in the blood, and increased acidity of the blood due to kidney problems.

What is the estimated number of patients affected by the condition?

At the time of designation, congenital sucrase-isomaltase deficiency affected approximately 2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 102,000 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).

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*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 27), Norway, Iceland and Liechtenstein. At the time of designation, this represented a population of 512,200,000 (Eurostat 2013).

What treatments are available?

At the time of designation, no satisfactory treatments for congenital sucrase-isomaltase deficiency were authorised in the EU. The disease was usually managed through lifelong dietary measures to eliminate sucrose from the diet.

How is this medicine expected to work?

Sacrosidase is an enzyme found in yeast which is able to break down sucrose. When given orally to the patient, sacrosidase is expected to break down sucrose in the patient’s body, thereby substituting an important aspect of the action of the missing enzyme. Since sacrosidase does not break down starch, it cannot fully substitute the function of the missing enzyme, and it is therefore expected to be used together with a low-starch diet.

What is the stage of development of this medicine?

The effects of sacrosidase have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with sacrosidase in patients with congenital sucrase-isomaltase deficiency had finished.

At the time of submission, sacrosidase was authorised in the United States for congenital sucrase-isomaltase deficiency.

At the time of submission, sacrosidase was not authorised anywhere in the EU for congenital sucrase-isomaltase deficiency but was available for use on a named-patient basis.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 11 July 2013 recommending the granting of this designation.

Opinions on orphan medicinal product designations are based on the following three criteria:

• 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.

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.