View clinical trials related to Nephropathic Cystinosis.
Filter by:Nephropathic Cystinosis (NC) is an orphan inherited autosomal recessive disease characterised as a generalized lysosomal storage disease due to a deficiency of the cystine lysosomal transport protein, cystinosin. Patients with NC usually receive cysteamine. Bone impairment was recently recognized as a late complication of NC, occurring at adolescence or early adulthood. Even though the exact underlying pathophysiology is unclear, at least six hypotheses are discussed, and mainly cysteamine toxicity and/or direct bone effect of the Cystinosin (CTNS) mutation. Because of the potential dramatic impact on quality of life of this novel complication, research should aim to better understand bone disease in NC. The primary objective of this study is to evaluate the action of cysteamine on osteoclastic differentiation and resorption activity of NC patients, depending on the underlying genotype. The Secondary objective is to describe the clinical bone status of NC patients depending on their underlying genotype.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.
Cure Cystinosis International Registry (CCIR) is an online, patient self-identifying registry developed by medical and scientific experts specifically for the cystinosis community. CCIR's sole purpose is to identify people with cystinosis worldwide in an effort to accelerate novel treatments and a cure for cystinosis. CCIR provides a safe and secure platform for: - sharing anonymous medical information about cystinosis with researchers, clinicians and patients - disseminating information about research opportunities - connecting researchers/investigators and prospective participants * Interested cystinosis patients may register themselves with CCIR online at http://www.cystinosisregistry.org. * No personal information is shared outside of CCIR. Individual identities are known only to appropriate CCIR staff. If a participant is matched to a clinical trial, the participant receives a notice from CCIR, after which they can decide whether they wish to contact the study sponsor.