Cystinosis Ireland is open to receiving applications in all areas of cystinosis research.
However, there are some areas of particular interest to us:
- All aspects of basic cystinosis research, including molecular and cellular biology understanding of the cystinosis disease and the development of disease models;
- Development of new therapeutics and therapeutic targets including new drug development and stem cell therapies;
- Understanding and tackling ocular issues in cystinosis
- Side effects of cysteamine – halitosis and body odour become major issues as children age and this interferes with the level of adherence to cysteamine. It also causes major psychological issues. Work had been done on developing new compounds but something that would work with cysteamine would be very welcome. Concern about other side effects of cysteamine – for example, Ehler Danlos-type symptoms, collagen issues and subsequent death in one patient. What other effects is it having that we don’t know about?
- Muscle weakness – swallowing problems have led to aspiration and death in some patients plus weakness in other muscles such as hands, legs, arms. Even patients who adhere well to their drug therapy have these issues. Is it caused by cysteamine and/or the cystinosis disease?
- Bone issues, including knock knees, which occur in most children whatever level of drug therapy adherence; spontaneous fractures and weak bones. Nearly all children have flat feet/fallen arches. These are in children who are well maintained on vitamin D, calcium etc and who have had diagnosis at birth.
- In early childhood, not eating is a major issue. Most children need a g-tube for feeding after diagnosis. There’s a question as to whether the cysteamine treatment or the cystinosis itself is the main reason for lack of appetite/not eating. A lack of eating has knock-on effects for life.
- Developing models of care transition from childhood care to adult care in the health service
- Examining the social impacts of long-term childhood disease and also the impacts of treatment(s) on patient lives
For more information please contact us at [email protected].
