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Rare diseases

Chiesi is committed to helping people living with rare and ultra-rare diseases by researching and developing innovative treatments to improve patient outcomes

Please note that disease prevalence and impacts may vary; consult a healthcare provider for advice on your specific condition

Alpha-mannosidosis

Fabry disease

Nephropathic cystinosis

Beta-thalassaemia

Leber hereditary optic neuropathy

Homozygous familial hypercholesterolemia

Lipodystrophy

Epidermolysis bullosa

Nephropathic cystinosis

Nephropathic cystinosis is an ultra-rare condition caused by a change in the CTNS gene. It results in a build-up of the amino acid cystine. Amino acids are the building blocks of proteins found throughout the body. When cystine builds up, it forms crystals that are commonly found in the kidneys, eyes, muscles and pancreas.1–4

There are three main types of cystinosis, including:1,5

  • Infantile nephropathic cystinosis – Onset within the first year of life
  • Intermediate cystinosis – Onset occurs in adolescence
  • Non-nephropathic (or ocular) cystinosis – Onset occurs in adulthood

In the UK, nephropathic cystinosis affects approximately 1 in 100,000 to 200,000 live births with approximately two or three new cases diagnosed each year.2

Nephropathic cystinosis signs and symptoms include:1,2,4

Kidney dysfunction and failure

Muscle and bone weakness

Growth delay

Eye abnormalities, including sensitivity to light and vision impairment

Nephropathic cystinosis is usually diagnosed by checking for cystine levels in the blood, and a genetic test to check for changes in the CTNS gene.1

It is important to note that those living with nephropathic cystinosis may have very different experiences of the disease and symptoms. If you, or anyone you know, is or may be affected by symptoms of nephropathic cystinosis, please speak to a healthcare professional as soon as possible to get appropriate advice.

Further support and resources

There are several charities and organisations across the UK dedicated to supporting individuals with nephropathic cystinosis, raising awareness about the condition, funding research, and providing resources for patients and caregivers.

For resources to support you with managing your condition:

Patient Resources

If you’re a patient, or a carer of a patient, who has been prescribed one of our products, you’ll find information and resources to help manage your condition here

Access resources

References

  1. Bäumner S and Weber LT. Front Pediatr 2018;6:58.
  2. NHS England. The services. Available at: https://www.england.nhs.uk/wp-content/uploads/2021/08/1640-service-specification-cystinosisdiagnosis-and-co-ordination-of-management.pdf.
  3. Cleveland Clinic. Amino Acids. Available at: https://my.clevelandclinic.org/health/articles/22243-amino-acids.
  4. MedilinePlus. Cystinosis. Available at: https://medlineplus.gov/genetics/condition/cystinosis/.
  5. Rare diseases. Cystinosis. Available at: https://rarediseases.org/rare-diseases/cystinosis/.