Cystinosis is a rare inherited condition characterised by accumulation of the amino acid cystine within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected. There are a number of medicines authorised for the treatment of cystinosis. These medicines are subject to routine pharmacovigilance follow-up. 1. Cystagon 50 and 150 mg capsules contain the active substance mercaptamine (also known as cysteamine). The medication is authorised for use in patients who have nephropathic (kidney) cystinosis. This medication should be initiated under the supervision of a physician experienced in the treatment of cystinosis.
Cystagon is contra-indicated during breast-feeding and should not be used during pregnancy, particularly during the first trimester, unless clearly necessary. It is contraindicated in patients who have developed hypersensitivity to penicillamine, and in patients who are hypersensitive to mercaptamine or to any of the excipients. Monitoring of blood cell count is recommended on a regular basis. Cases of Ehlers-Danlos like syndrome and vascular disorders on elbows have been reported in children treated with high doses of different cysteamine preparations. It is therefore recommended to monitor regularly skin and to consider X-ray examinations of the bone as necessary2. Procysbi (mercaptamine) 25 and 75 mg capsules are also indicated for the treatment of nephropathic cystinosis. This medication should be initiated under the supervision of a physician experienced in the treatment of cystinosis.3. Cystadrops (mercaptamine) is an eye medicine used in patients from 2 years of age who have cystinosis. This medication should be initiated under the supervision of a physician experienced in the treatment of cystinosis.Cystagon is contra-indicated in patients who are hypersensitive to mercaptamine or to any of the excipients.
All medications carry the potential risk of side effects. There is a legal framework for the provision of detailed side-effect information, including specific warnings if required, for medicines across the European Union which provides for the format and content of this information as part of a medicine's authorisation process. Such information is then published as a Summary of Product Characteristics (SmPC) document as well as a Patient Information Leaflet (PIL). The SmPC contains information for the healthcare professionals and the package leaflet for patients, both of which are reviewed and approved as an intrinsic part of the licensing of a medicine, and continuously updated to reflect the current state of knowledge of the medicine and the risks associated with its use. As such, it is considered important for healthcare professionals and patients, as well as their carers, to regularly read and review these documents in full to support safe and appropriate use of medicines.
Regarding other treatments available, it would not be appropriate for me as Minister for Health to comment in this manner on the range or details of possible treatment options available for any individual patient or condition as this is remains a purely clinical matter.
It is important to note that any decision to consider or undertake any course of treatment is solely the decision of a treating doctor, in conjunction with their patient.