Kidney Transplantation in Patients With Cystinosis

NCT00074516 | Completed

• 2 other identifiers: 04005704-DK-0057
• Study Type: observational
• Target: 11
• Locations: 1 country
• Sites: 1

Brief Summary

This study will test the effectiveness of a combination of anti-rejection medicines in preventing complications typically seen in cystinosis patients undergoing kidney transplants. Cystinosis is a rare disease affecting children that causes growth retardation and kidney failure. Kidney transplant is the standard treatment for kidney failure in these patients, followed by immunosuppression to prevent organ rejection. The standard drug regimen for immunosuppression includes steroids, which can lead to other serious complications. This study will look at combination therapy that does not include steroids. Patients 7 years of age and older with cystinosis who are candidates for a kidney transplant at the National Institutes of Health Clinical Center may be eligible for this 5-year study. Candidates will be screened with a medical history, physical examination, and blood tests. Participants will undergo the following tests and procedures:

• Adults receive thymoglobulin at the time of the transplant and for 3 days after surgery; mycophenolate mofetil daily after the transplant; tacrolimus twice a day once the kidney is working well; and sirolimus daily.
• Children receive daclizumab the day of the transplant, day 4 after surgery, and at weeks 2, 4, 6, 8, 11, 15, 19, and 23, and mycophenolate mofetil daily after the transplant.
• Follow-up visits: After discharge from the hospital, patients return to the Clinical Center for follow-up at 6 months, at 1 year, and then yearly for 5 years. A physical examination is done the first four visits, and blood and urine samples are collected at every visit. Kidney biopsies (removal of a small amount of kidney tissue through a thin needle) are done at 6 months, 1, 3, and 5 years after the transplant. The biopsied tissue is examined to evaluate how well the kidney is responding to the immunosuppression medicines, to determine whether more or less medication is needed, and to evaluate how the patient is responding to the donor kidney.
• Routine laboratory tests, coordinated by the patient's local physician, are done 2 to 3 times a week for the first 2 to 3 months after transplantation, then weekly for several more months, and at least monthly for life.

Conditions

Cystinosis

Keywords

Immunosuppression; Kidney; Cysteamine; Steroid-Free; Outcomes

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Candidates for a kidney transplant at the National Institutes of Health Clinical Center.
• Ability and willingness to provide informed consent (adults greater than or equal to 18.0 years) or assent (children greater than or equal to 7 years and less than 18.0 years).
• Willingness to travel to the Clinical Center for protocol samples to be collected and the ability to send samples from a local collection source and mail them overnight.

You may not qualify if:

• Inability or unwillingness to comply with protocol, or to provide informed consent. Criteria include a history of noncompliance, circumstances where compliance with protocol requirements is not feasible due to living conditions, travel restrictions, lack of access to urgent medical services, or access to anti-rejection drugs once the study is completed.
• Any active malignancy or history of a hematogenous malignancy or lymphoma. Patients with primary, cutaneous basal cell or squamous cell cancers may be enrolled providing the lesions are appropriately treated prior to transplantation.
• Significant coagulopathy or requirement for anticoagulation therapy that would contraindicate allograft biopsy.
• Any known immunodeficiency syndrome.
• Peak panel reactive antibody greater than 20% or historically positive crossmatch due to HLA-specific antibodies.
• Prior kidney graft survival less than 3 years or positive T or B cell crossmatch in patients receiving repeat kidney allograft.
• Historical or current positive T cell cross match between donor and recipient.
• Pregnancy or unwillingness to practice an approved method of birth control. Acceptable methods of birth control may include barrier methods, oral contraceptives, Norplant, Depo-Provera, or partner sterility.

Sponsors & Collaborators

• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science. 1982 Sep 24;217(4566):1263-5. doi: 10.1126/science.7112129.

  PMID: 7112129 BACKGROUND

• Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998 Apr;18(4):319-24. doi: 10.1038/ng0498-319.

  PMID: 9537412 BACKGROUND

• Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002 Jul 11;347(2):111-21. doi: 10.1056/NEJMra020552. No abstract available.

  PMID: 12110740 BACKGROUND

MeSH Terms

Conditions

Cystinosis

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

Study Officials

• Monique E Cho, M.D.

  National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: December 12, 2003
• First Posted: December 15, 2003
• Study Start: December 10, 2003
• Study Completion: June 11, 2014
• Last Updated: October 6, 2017

Record last verified: 2014-06-11

Locations

US (1)