Renal Transplantation in Recipients With Nephropathic Cystinosis
Data Collection
Cystinosis+2
+ Metabolic Diseases
+ Metabolism, Inborn Errors
Summary
Study start date: December 10, 2003
Actual date on which the first participant was enrolled.Cystinosis is an autosomal recessive disorder due to impaired cystine transport across the lysosomal membrane, resulting in abnormal cystine accumulation throughout the body. Fanconi syndrome manifests in the first year of life, and end-stage renal failure occurs at \~10 years of age, requiring dialysis or kidney transplantation. Oral cysteamine therapy delays but does not always prevent the need for a renal allograft in cystinosis, which accounts for \~3% of all pediatric transplants in the United States. With improvements in immunosuppression, short-term graft and patient survival is quite good for cystinosis patients, although not as good as for patients with ESRD due to structural defects. Long-term graft survival can be affected by the non-renal complications of cystinosis, which persist after renal transplantation. The aim of this study is to establish standards for the transplantation of kidneys into patients with nephropathic cystinosis using steroid-sparing immunosuppression. Our goals are to: 1. Analyze the long and short term outcome of cystinosis patients following living and cadaveric kidney transplantation using steroid-free immunosuppression; 2. Determine a consistent clinical approach to recipients with cystinosis in the immediate post-operative period, specifically regarding fluid and electrolyte management, retention of native kidneys, and timing of the re-initiation of cystinosis therapy after transplantation; 3. Assess the immunologic impact of cystinosis by monitoring immune responses using a number of in vitro assays. In this study, patients will receive a living donor or cadaveric kidney transplant with steroid free immunosuppression. Graft function, histology and graft and patient survival will be measured. Progression of cystinosis in other organ systems will be monitored. Additional studies on the graft will include transcriptional analysis of inflammatory and immunologic mediators. Serum will be assayed for inflammatory mediators and peripheral white blood cells assayed for immune function. This study will represent the first comprehensive, prospective analysis of kidney transplantation in patients with cystinosis.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.11 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Over 7 Years
Range of ages for which participants are eligible to join.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
* INCLUSION CRITERIA: 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. EXCLUSION CRITERIA: 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.
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, United StatesSee the location