Clinical Trial: Biomarker for Farber Disease

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

Official Title: Biomarker for Farber Disease - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Brief Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Farber disease from plasma and saliva. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Detailed Summary:

Farber disease, also known as Farber's lipogranulomatosis, is an autosomal recessive lysosomal storage disease marked by a deficiency in enzyme ceramidase which cause a progressive accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system.

Farber disease is an extremely rare disorder, with a prevalence of less than 1/1000000. Currently only about 80 cases are reported worldwide. Disease onset is typically in early infancy but may occur later in life. It is inherited with an autosomal recessive pattern. The clinical presentation of Farber Disease (FD) is characterized by the appearance of subcutaneous skin nodules, ordinarily near the joints, most often interphalangeal, wrist, elbow and ankle joints, or over points of mechanical pressure. These manifestations are very painful and lead to progressive joint stiffness, limitation of motion by contractures and finally to immobilization and deformation of joints. Also, a characteristic sign of FD is the development of a progressive hoarseness due to laryngeal involvement.

Beside these major manifestations seven phenotypes have been described which differ in severity and additional organ involvement, like the lungs, nervous system, heart and lymph nodes. Dependent on residual lysosomal ceramidase turnover, patients have a variable degree of central nervous system disease, leading to progressive neurologic deterioration. In most cases the neuronal dysfunction rather than the general physical dystrophy seems to limit the duration of FD. As well, patients with FD may die due to pulmonary disease with interstitial pneumonia.

First symptoms usually appear between the newborn period and the first birthday. Milder forms of type 3 were described with onset at 20 months
Sponsor: University of Rostock

Current Primary Outcome: Development of a new MS-based biomarker for the early and sensitive diagnosis of Farber disease using the technique of Mass-spectometry 10ml EDTA blood, saliva tube and a dry blood spot filter card [ Time Frame: 36 month ]

Original Primary Outcome: Same as current

Current Secondary Outcome: Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 month ]

Original Secondary Outcome: Same as current

Information By: University of Rostock

Dates:
Date Received: October 23, 2014
Date Started: November 2014
Date Completion: November 2017
Last Updated: September 22, 2016
Last Verified: September 2016