Protocol Number: 04-DK-0057

Title:

Renal Transplantation in Recipients with Nephropathic Cystinosis

Number:

04-DK-0057

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:

1. Kidney transplant: Patients undergo kidney transplant surgery under general anesthesia.

2. Central line placement: A large intravenous catheter (plastic tube, or IV line) is placed in a vein in the chest or neck under local anesthesia before the transplant surgery. The line remains in place for some time during the hospitalization to administer immunosuppressive medications, antibiotics, and blood, if needed. The line is also used to collect blood samples.

3. Leukapheresis: This procedure for collecting white blood cells is done before the transplant. The cells are studied to evaluate the patient's immune system. Whole blood is withdrawn through a catheter in an arm vein or through the central line and directed into a machine that separates the blood components by spinning. The white cells are removed and the red cells and plasma are returned to the body.

4. Immunosuppressive medication following transplantation

-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.

5. 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.

6. 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.

Sponsoring Institute:

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

Recruitment Detail

Type: No longer recruiting/follow-up only

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria: This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.

Special Instructions:

Currently Not Provided

Keyword(s):

Immunosuppression

Kidney

Cysteamine

Steroid-Free

Outcomes

Recruitment Keyword(s):

None

Condition(s):

Cystinosis

Investigational Drug(s):

None

Investigational Device(s):

None

Interventions:

None

Supporting Site:

National Institute of Diabetes and Digestive and Kidney Diseases

Contact(s):

This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.

Citation(s):

Gahl WA, et al. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science. 1982 Sep 24;217(4566):1263-5. PMID: 7112129.

Town M, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998 Apr;18(4):319-24. PMID: 9537412.

Gahl WA, et al. Cystinosis. N Engl J Med. 2002 Jul 11;347(2):111-21. Review. No abstract available. PMID: 12110740.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department Clinical Research Informatics, CC.

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