Cystinosis is a rare hereditary disease which leads to accumulation of cystine in the lysosomes causing organ failure. The disease manifests in all organs, but the kidneys and the eyes are affected first.
Even though for cystinosis there is a therapy available, cysteamine, it has its undeniable downsides. Where improvement of this specific therapy, but also overall treatment is needed, became clear during the conversation we had with Irene Kinds from the Cystinosis Patient organisation Vlaanderen and The Netherlands. Irene is the mother of 2 sons of which the oldest, Job (16) has cystinosis.
When is the diagnosis usually set?
Because it is a genetic disease, the build-up of cystine already starts at birth. In general, in The Netherlands, the diagnosis is set around the age of 12 months. This is different when younger siblings in the family of a cystinosis patient are born, as these babies can be tested for the genetic mutation immediately after birth. However, the diagnosis can also be set much later than 12 months, as obviously, with only 1 additional patient in The Netherlands each year, it is not one of the first possible diseases that comes to mind when visiting a physician.
How is the daily life of patients typically impacted?
The way the disease manifests is very heterogenous. If you would ask several patients how they feel, you would get many different answers. The impact on daily life is also related to the age of the patients and the impact change, for example at the transition from primary to secondary school, or when starting a job. Some aspects are the same for the majority of patients and they have to do with the cysteamine treatment. Cysteamine intake follows a strict regimen. It is also related to side effects like temporary bad body odour and food intake is restricted during some hours when using the bi-daily treatment. Apart from the cysteamine treatment, patients must take quite some other medication as well, for example to protect the kidney function. Now, Job is taking 84 tablets each day. Although it is a common complication of cystinosis, luckily he does not experience difficulty with swallowing. When cystinosis patients become older, they usually handle the dos and don’ts themselves, but for the younger ones parents are much involved. The routines become a habit, but on some days, it is a real puzzle how the treatment intake can be fit in.
Taking the medication strictly according to recommendations is a hassle, but do you think it is worth it?
Yes, I really believe that. But also starting the therapy as early as possible in life gives better outcomes. Renal failure used to be the main topic in patient care, but nowadays there are other factors as well. With patients maintaining their kidney condition, being able to benefit for a long time from a transplanted kidney, and becoming older, other symptoms start to play a role, for example hand muscle weakness. During the patient family meetings every year, we share stories about the disease burden, the daily practice and how issues are solved. But we also hear when patients are in the need of a kidney transplantation, had a kidney transplant and how they feel afterwards, so we see the development of the patients over time.
Is there any other development for the treatment of cystinosis, besides cysteamine therapy?
Yes, during the international patient meeting we met a young man who was treated by means of a stem cell therapy. This therapy basically cured him from cystinosis, as the transplanted cells carry a functional copy of the protein that is defective in all other cells. Although this one-time treatment solves the cause of the disease, the organ damage that was already present, will not be reversed. And as the intervention itself is very burdensome, not without risks and the whole process is lengthy, what seems to be the ideal solution, patients may not (yet) experience it as preferred option compared to cysteamine.
You will gradually take over some activities in the patient organisation from now on. Is there anything you would like to achieve?
It feels unfair that a child with cystinosis living in The Netherlands has many possibilities for treatment, while a child living in another (European) country has far fewer treatment options. For example, there is quite a large community of patients in South Africa and our patient organisation is in contact with them. Only a previous, liquid version of cysteamine treatment is available, and a stable supply is not guaranteed at all. Tablets or capsules are not available and refrigerated storage would be a real issue for some families. I would really like to see that all patients can benefit from an available treatment, which also means that storage conditions and price should be considered.
On top of that, it would be a great achievement if cystinosis could be added to the neonatal screening program. The patient organisation is already working on this goal for a while with RIVM. As said, starting the treatment as early as possible can really help to delay the symptoms caused by cystine accumulation.
Above all, I want the Cystinosis Group to remain the valuable community it is today. A place where peers can meet, can share concerns and questions, and thus work towards (even) better healthcare for our specific group, together with all the doctors, researchers, and other people who advocate for cystinosis.
Orfenix’s commitment to improving treatment for cystinosis
Through the collaboration Patient One, Orfenix is involved in developing a cysteamine therapy that overcomes some of the burden caused by the current treatment options. With the feedback from the patient organisations, the product development and clinical development path are focussed on what is most beneficial for patients, for patients in The Netherlands and others in need.
