Clinical Trial: Biomarker for Patient With Cystinosis Disease or Highly Suspected for Cystinosis Disease

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Biomarker for Cystinosis Disease: An International Epidemiological Protocol

Brief Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Cystinosis disease from plasma.

Detailed Summary:

Cystinosis is a rare, multisystem genetic disorder characterized by the accumulation of an amino acid called cystine in different tissues and organs of the body including the kidneys, eyes, muscles, liver, pancreas and brain. Generally, cystinosis is broken down into three different forms known as nephropathic cystinosis, intermediate cystinosis and non-nephropathic (or ocular) cystinosis. Nephropathic cystinosis presents in infancy and is the most common and severe form. Early detection and prompt treatment are criticalin slowing the development and progression of symptoms associated with cystinosis. The kidneys and eyes are the two organs most often affected. Individuals with nephro-pathic or intermediate cystinosis ultimately require a kidney transplant. Non-nephropathic cystinosis only affects the corneas of the eyes. Cystinosis is caused by mutations of the CTNS gene and is inherited as an autosomal recessive disease.

The specific symptoms and severity of cystinosis vary greatly from one person to another based upon several factors including age of onset and whether the disorder is promptly diagnosed and treated. The progression of the disorder can be slowed by early diagnosis and treatment. Eventually, cystinosis can affect all tissues of the body. The age of onset for different symptoms varies greatly.

NEPHROPATHIC CYSTINOSIS (renal Fanconi disease)

Nephropathic cystinosis is the most frequent and most severe form of cystinosis. The symptoms of nephropathic cystinosis usually become apparent within the second half of the first year of life. Specific symptoms can be mild or severe based upon each individual case and the age when treatment is started.Growth failure and renal Fanconi disease are usually the first noticeable complications of the disorder. Although infant
Sponsor: University of Rostock

Current Primary Outcome: Development of a new MS-based biomarker from plasma [ Time Frame: 36 months ]

Original Primary Outcome: Same as current

Current Secondary Outcome: Number of correctly identified patients with Cystinosis disease [ Time Frame: 36 months ]

Original Secondary Outcome: Same as current

Information By: University of Rostock

Dates:
Date Received: July 12, 2016
Date Started: July 2016
Date Completion: July 2019
Last Updated: January 18, 2017
Last Verified: January 2017