Sensenbrenner Clinical Study (Sensenbrenner)

An Observational, Clinical Study to Collect the Medical Data in Order to Determine the Craniofacial Characteristics Through Phenotypic Analysis on Children With Sensenbrenner Treated/Followed at the Hôpital Femme Mère Enfant From 2005

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).

Study Overview

• Status: Unknown
• Conditions: Sensenbrenner Syndrome
• Intervention / Treatment: Other: Medical Data Collect

• Study Type: Observational
• Enrollment (Anticipated): 4

Contacts and Locations

• Study Contact: Name: Federico DI ROCCO, Pr; Phone Number: +33 4 72 35 75 72; Email: federico.dirocco@chu-lyon.fr
• Study Contact Backup: Name: Justine BACCHETTA, Pr; Phone Number: +33 4 27 85 61 30; Email: justine.bacchetta@chu-lyon.fr

Study Locations

• France
  • Bron, France, 69500
    • Hôpital Femme-Mère-Enfant
    • Contact: Federico DI ROCCO, Pr; Phone Number: +33 4 72 35 75 72; Email: federico.dirocco@chu-lyon.fr
    • Principal Investigator: Federico DI ROCCO, Pr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years to 13 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Children with Sensenbrenner syndrome

Description

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

Exclusion Criteria:

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Children with Sensenbrenner Syndrome; 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	The result of Creatinine in children with Sensenbrenner syndrome will be collected though study completion an average of 1 year.

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon

Study record dates

Study Major Dates

• Study Start (Anticipated): January 1, 2020
• Primary Completion (Anticipated): July 1, 2020
• Study Completion (Anticipated): July 1, 2020

Study Registration Dates

• First Submitted: November 22, 2019
• First Submitted That Met QC Criteria: December 2, 2019
• First Posted (Actual): December 3, 2019

Study Record Updates

• Last Update Posted (Actual): December 3, 2019
• Last Update Submitted That Met QC Criteria: December 2, 2019
• Last Verified: November 1, 2019

More Information

Terms related to this study

• Keywords: Sensenbrenner Syndrome; phenotypic analysis; craniofacial characteristics
• Other Study ID Numbers: Sensenbrenner_2019

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No