An observational study in Sensenbrenner Syndrome, sponsored by Hospices Civils de Lyon. Status unknown at 1 site in France. Open to participants aged 3 Years to 13 Years. Per ClinicalTrials.gov, last updated 2019-12-03.
Sponsored by Hospices Civils de Lyon · Observational
Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare autosomal-recessive disorder belonging to the ciliopathy group of diseases. It is characterized by a facial dysmorphism, abnormal bone development and ectodermal defects including dental anomalies. CED is a heterogeneous condition with significant phenotypic and molecular variability, whose spectrum may include cases of renal impairment, hepatic fibrosis, retinitis pigmentosa and/or brain anomalies. In many cases, patients develop chronic kidney disease (CKD) due to nephronophthisis between 2 and 6 years of age. The aim of this retrospective study is to better understand the characteristics of this syndrome and to find prognostic factors of CKD. We make the hypothesis that an early diagnosis of the syndrome would lead to a better global management of patients (quality of life, delayed onset of end-stage renal disease).
Hospices Civils de Lyon is the lead sponsor of 1,826 studies on the registry; 439 are open to participants now.
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Children with Sensenbrenner syndrome
Exclusion Criteria:
Children with Sensenbrenner followed from 2005. Variable phenotype related to the mutation gene will be analysed to determine some possible prognostic factors of the risk of developing end-stage kidney disease.
Other: Medical Data Collect
It is a retrospective clinical study and we will collect only the medical data registered in our hospital software
Evaluation of renal impairment of 4 patients with Sensenbrenner identified with WDR19 and WDR35 mutations, through measurement of level of creatinine in the urine.
In many cases, patients with this syndrome develop chronic kidney disease (CKD) due to nephronophthisis between 2 and 6 years of age. Nephronophthisis is characterized by decreased urine concentration ability, chronic tubulointerstitial nephritis, cystic kidney disease and progression towards end-stage kidney disease (ESKD). In this study, we would analyze the renal phenotypes through the level of Creatinine in the urine to detect early-stage kidney disease. All the data will be collected from the patient medical records.
Time frame: The result of Creatinine in children with Sensenbrenner syndrome will be collected though study completion an average of 1 year.
This study is status unknown, as verified in Nov 2019. You cannot join it, but the record below documents what was studied.
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Hospices Civils de Lyon