Sensenbrenner SyndromeSensenbrennerNCT04184531
Sensenbrenner Clinical Study
An observational study of Sensenbrenner Syndrome, run by Hospices Civils de Lyon at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 to 13 years
- Conditions the study is for
- Sensenbrenner Syndrome
- What is being tested?
- Medical Data Collect
- How many people
- 4 participants
- Where
- 1 siteFrance
- Study dates
- Jan 2020to Jul 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 13 years
- All sexes
- No healthy volunteers
- Child
Study population: Children with Sensenbrenner syndrome
Who may be able to join
- 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
Who cannot join
- Patients whose parents / legal guardian have object to using the data usually collected for care
Trial locations and contacts
1 site in 1 country.
France1 site
Hôpital Femme-Mère-Enfant
Bron, 69500
Federico DI ROCCO, Pr, 4 72 35 75 72 ext. +33, federico.dirocco@chu-lyon.fr
Federico DI ROCCO, Pr
About this study
Official title: 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).
- Conditions
- Sensenbrenner Syndrome
- Being tested
- Medical Data Collect
- Keywords
- Sensenbrenner Syndrome, phenotypic analysis, craniofacial characteristics
- Medical subject headings
- Cranioectodermal Dysplasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Medical Data CollectOther
It is a retrospective clinical study and we will collect only the medical data registered in our hospital software
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: Medical Data Collect |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: The result of Creatinine in children with Sensenbrenner syndrome will be collected though study completion an average of 1 year.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Dec 2019
- Study startJan 2020 (estimated)
- Primary completionJul 2020 (estimated)
- Study completionJul 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sensenbrenner SyndromeStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 4 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04184531
- Sponsor's protocol ID
- Sensenbrenner_2019
- Acronym
- Sensenbrenner
- Status last verified
- Nov 2019
- First submitted
- 22 Nov 2019
- Last updated
- 3 Dec 2019
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Dec 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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
- ClinicalTrials.gov ID
- NCT04184531
- Acronym / sponsor ID
- Sensenbrenner / Sensenbrenner_2019
- Conditions
- Sensenbrenner Syndrome
- Keywords
- Sensenbrenner Syndrome, phenotypic analysis, craniofacial characteristics
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 4 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- Jan 2020 (estimated)
- Primary completion
- Jul 2020 (estimated)
- Study completion
- Jul 2020 (estimated)
- First posted
- 3 Dec 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Children with Sensenbrenner Syndrome | – | Other: Medical Data CollectChildren 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. |
Who may qualify
- Ages
- 3 to 13 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Children with Sensenbrenner syndrome
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (1 listed)
- Patients whose parents / legal guardian have object to using the data usually collected for care
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Medical Data CollectIt is a retrospective clinical study and we will collect only the medical data registered in our hospital software | Other | Children with Sensenbrenner Syndrome |
Primary outcome
Evaluation of renal impairment of 4 patients with Sensenbrenner identified with WDR19 and WDR35 mutations, through measurement of level of creatinine in the urine.
Time frame: 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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Dec 2019.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sensenbrenner Syndrome, run by Hospices Civils de Lyon at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 3 Dec 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Federico DI ROCCO, Pr (4 72 35 75 72 ext. +33, federico.dirocco@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluation of renal impairment of 4 patients with Sensenbrenner identified with WDR19 and WDR35 mutations, through measurement of level of creatinine in the urine. (time frame: The result of Creatinine in children with Sensenbrenner syndrome will be collected though study completion an average of 1 year.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Dec 2019.