Cure Cystinosis International Registry

NCT01327807 | Unknown

• 1 other identifier: CCIR100913
• Study Type: observational
• Target: 750
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Cystinosis; Nephropathic Cystinosis; Renal Fanconi Syndrome

Keywords

Registries; Cystinosis; Nephropathic Cystinosis; Renal Fanconi Syndrome; Cystine; Kidney; Rare Diseases

Outcome Measures

Primary Outcomes (1)

• Age at treatment initiation and the effect on disease outcomes

  Lifetime

Study Arms (1)

Cystinsosis patients

Those with a diagnosis of cystinosis.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

International cystinosis community

You may qualify if:

• Diagnosis of cystinosis

Sponsors & Collaborators

• Cystinosis Research Foundation: lead

Study Sites (1)

University of California, San Diego

San Diego, California, 92103-8450, United States

RECRUITING

Related Publications (2)

• Cherqui S. Cysteamine therapy: a treatment for cystinosis, not a cure. Kidney Int. 2012 Jan;81(2):127-9. doi: 10.1038/ki.2011.301.

  PMID: 22205430 RESULT

• Gangoiti JA, Fidler M, Cabrera BL, Schneider JA, Barshop BA, Dohil R. Pharmacokinetics of enteric-coated cysteamine bitartrate in healthy adults: a pilot study. Br J Clin Pharmacol. 2010 Sep;70(3):376-82. doi: 10.1111/j.1365-2125.2010.03721.x.

  PMID: 20716238 RESULT

MeSH Terms

Conditions

Cystinosis; Fanconi Syndrome; Rare Diseases

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Renal Tubular Transport, Inborn Errors; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Jerry A Schneider, M.D.

  University of California, San Diego

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Betty L Cabrera, M.P.H

CONTACT

858-822-3747; curator@cystinosisregistry.org

Study Design

• Study Type: observational
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor Emeritus of Pediatrics

Study Record Dates

• First Submitted: March 29, 2011
• First Posted: April 4, 2011
• Study Start: August 1, 2010
• Primary Completion: December 1, 2020
• Study Completion: December 1, 2022
• Last Updated: March 12, 2014

Record last verified: 2014-03

Locations

US (1)