Using cysteamine to treat cystinosis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on patients with cystinosis, a genetic disorder that leads to kidney failure and other complications due to cystine accumulation in the body. The study monitors patients treated with cysteamine, an oral medication that reduces cystine levels, to assess its long-term effects and identify new complications associated with the disease. Patients are evaluated at the NIH Clinical Center every two years, where a series of tests are conducted to track their health and the effectiveness of cysteamine treatment. The study also aims to maintain a patient population for genetic testing to better understand the disease's progression.

Why it matters

Who can join: the full rules

* INCLUSION CRITERIA:

Diagnosis of cystinosis, whether classical or one of the variants with later onset or no renal complications.

Patients will be diagnosed as having cystinosis based upon a leucocyte cystine content greater than 1 nmol half-cystine/mg protein (normal, less than 0.2) and a typical clinical course.

EXCLUSION CRITERIA:

Inability to travel to the NIH.

Age less than one week.

Nonviable neonates and neonates of uncertain viability will be excluded.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: William A Gahl, M.D. — National Human Genome Research Institute (NHGRI)
• Study coordinator: William A Gahl, M.D.
• Email: gahlw@mail.nih.gov
• Phone: (301) 402-2739

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Cystinosis and Mitochondrial Metabolism study

  This study tests a treatment approach targeting mitochondrial metabolism in people with nephropathic cystinosis to see if it improves kidney-related outcomes.

  Recruiting at 9 sites Hospices Civils de Lyon · Bron and 8 other locations · NCT07319091

• National Registry for Rare Kidney Diseases

  This study is collecting health information from people with rare kidney diseases to help improve treatments and create better care guidelines.

  Recruiting UK Kidney Association · Bristol, South West · NCT06065852

• Cohort study on cystinosis in Europe

  This study looks at how cystinosis affects the lives of patients in Europe and how different treatments impact their health and well-being.

  Recruiting Institut National de la Santé Et de la Recherche Médicale, France · Paris, Île-de-France Region · NCT05901077

• Transplanting stem cells and kidneys from the same donor to prevent rejection

  This study is testing if giving patients stem cells and a kidney from the same donor can help prevent kidney rejection without needing lifelong medication to suppress their immune system.

  Recruiting Phase 1/2 Stanford University · Palo Alto, California · NCT05508009

• Registry for patients with rare diseases

  This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.

  Recruiting Sanford Health · Sioux Falls, South Dakota · NCT01793168

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.