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This medicine was designated as an orphan medicine for the treatment of mucopolysaccharidosis type IV A (Morquio A syndrome), in the European Union on 10 August 2022.
This means that the developer will receive scientific and regulatory support from EMA to advance their medicine to the stage where they can apply for a marketing authorisation.
Orphan designation does not mean the medicine is available or authorised for use. All medicines, including designated orphan medicines, must be authorised before they can be marketed and made available to patients in the EU.
During the medicine's development, doctors may be able to enrol patients in clinical trials investigating the medicine. For information on ongoing clinical trials in the EU, see:
This medicine belongs to the class of: Gene therapy
Patients with mucopolysaccharidosis Type IV A have a deficiency in the enzyme N-acetylgalactosamine 6-sulfatase (GALNS), which is important for breaking down substances in the body called glycosaminoglycans (GAGs). The medicinal product consists of hematopoietic stem and progenitor cells (HSPCs) taken from the patient and modified ex-vivo with a lentiviral vector virus that inserts working copies of the GALNS gene into the stem cells. Gene-corrected HSPCs are given back to the patient after proper conditioning to make space in the patient bone marrow, and, upon engraftment, will generate both circulating and tissue-resident hematopoietic progeny, expressing and releasing the functional GALNS enzyme that will also cross-correct non-hematopoietic cells.
Based on description provided by sponsor
At the time of submission of the application for orphan designation:
More information on how potential new medicines are tested during their development is available on Authorisation of medicines.
Medicines intended for rare diseases can be granted an orphan designation during their development.
The orphan designation allows the developer to benefit from:
To qualify for orphan designation, a medicine must meet a number of criteria:
EMA's Committee for Orphan Medicinal Products (COMP) is responsible for issuing opinions on applications for orphan designations.
The Agency sends the COMP opinion to the European Commission, which is responsible for granting the orphan designation. The full list of orphan designations is available in the Community register of orphan medicinal products for human use.
For more information, see:
Fondazione Telethon Ets
| Date | Update |
|---|---|
| November 2022 | The sponsor’s name was changed from Fondazione Telethon to Fondazione Telethon Ets. |
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
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.
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: