Sensenbrenner Clinical Study

• Conditions: Sensenbrenner Syndrome
• Interventions: Other: Medical Data Collect

• Registration Number: NCT04184531
• Lead Sponsor: Hospices Civils de Lyon

Brief Summary

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).

Detailed Description

Not available

Study Timeline

• Status Verified: 2019-11
• Study First Submitted: 2019-11-22
• Study First Submitted QC: 2019-12-02
• Last Update Submitted: 2019-12-02
• Study First Posted: 2019-12-03
• Last Update Posted: 2019-12-03
• Study Start: 2020-01
• Primary Completion: 2020-07
• Study Completion: 2020-07

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 4

Inclusion Criteria

• Boys and girls.
• Aged 3 to 18 years old.
• Subjects with a Sensenbrenner's syndrome diagnosis and followed from 2005
• Parents/ legal guardian must provide non opposition prior to participation in the study

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Exclusion Criteria

• Patients whose parents / legal guardian have object to using the data usually collected for care

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Children with Sensenbrenner Syndrome	Medical Data Collect	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.

Primary Outcome Measures

Name	Time	Method
Evaluation of renal impairment of 4 patients with Sensenbrenner identified with WDR19 and WDR35 mutations, through measurement of level of creatinine in the urine.	The result of Creatinine in children with Sensenbrenner syndrome will be collected though study completion an average of 1 year.	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.

Trial Locations

Locations (1)

Hôpital Femme-Mère-Enfant; 🇫🇷 Bron, France