Detection of novel genetic variants within the aquaporins 1 and 5
| ISRCTN | ISRCTN55161632 |
|---|---|
| DOI | https://doi.org/10.1186/ISRCTN55161632 |
| Protocol serial number | N/A |
| Sponsor | German Research Council (Deutsche Forschungsgemeinschaft [DFG]) (Germany) |
| Funder | German Research Council (Deutsche Forschungsgemeinschaft [DFG]) (Germany) - pending as of 06/05/2009 |
- Submission date
- 06/05/2009
- Registration date
- 03/07/2009
- Last edited
- 03/07/2009
- Recruitment status
- No longer recruiting
- Overall study status
- Completed
- Condition category
- Respiratory
Prospectively registered
Protocol
Statistical analysis plan
Results
Individual participant data
Plain English summary of protocol
Not provided at time of registration
Contact information
Dr Michael Adamzik
Scientific
Scientific
Klinik fur Anasthesiologie und Intensivmedizin
Hufelandstrasse 55
Essen
45122
Germany
Study information
| Primary study design | Observational |
|---|---|
| Study design | Observational single-centre case-control study |
| Secondary study design | Case-control study |
| Scientific title | Detection of novel genetic polymorphisms (single nucleotide polymorphisms [SNPs]) within the aquaporins 1 and 5: an observational single-centre study |
| Study objectives | We hypothesised that single nucleotide polymorphisms (SNPs) within the aquaporins 1 and 5 contribute to the phenotypic variability of acute respiratory distress syndrome (ARDS), sepsis or bronchial asthma. |
| Ethics approval(s) | Local ethics committee (Vorsitzender der Ethikkommission, Institut für Pharmakologie, Universitätsklinikum Essen) approved on the 9th December 2002 (ref: 01-97-1697, 05-2776, 06-3078, 07-3313) |
| Health condition(s) or problem(s) studied | Aquaporines, cell migration and inflammation |
| Intervention | The following analyses will be performed on each participant: 1. Deoxyribonucleic acid (DNA) extraction from rest material of the routine diagnostic, e.g., saliva, urine or blood 2. Identification of novel DNA polymorphisms through sequencing polymerase chain reaction (PCR) products of the AQP1 and 5 promoter. The method of "slowdown PCR" should be used to amplify promoter fragments with extremely high GC content (greater than 85%). 3. Determination of transcriptional activity of haplotypes by reporter assays in different cell lines 4. Haplotype-dependent analysis of radiation and chemotherapeutics on cell proliferation in cell systems 5. Haplotype-dependent analysis of messenger ribonucleic acid (mRNA) level by quantitative real time PCR 6. Haplotype-dependent analysis of protein level by Western Blot 7. Haplotype-dependent analysis of cell migration 8. Haplotype-dependent analysis of transcription factors which bind to the polymorphic regions by electrophoretic mobility shift assay (EMSA) 9. Genotyping of ARDS, sepsis, bronchial asthma patients and healthy caucasian subjects by restriction fragment length polymorphism (RFLP) and pyrosequencing and haplotype-dependent analysis of survival and disease course using SPSS and GraphPad Prism software |
| Intervention type | Other |
| Primary outcome measure(s) |
Detection of SNPs wthin the Aqquaporin 1 and 5 gen which contribute to the phenotypic variability of ARDS, sepsis and bronchial asthma, measured at 30 day survival and 100 day survival |
| Key secondary outcome measure(s) |
Analysis of survival, disease course and rehabilitation, measured at 30 day survival and 100 day survival |
| Completion date | 01/01/2011 |
Eligibility
| Participant type(s) | Patient |
|---|---|
| Age group | Adult |
| Lower age limit | 18 Years |
| Sex | All |
| Target sample size at registration | 650 |
| Key inclusion criteria | 1. Acute respiratory distress syndrome: 1.1. Timing: acute onset 1.2. Oxygenation: partial pressure of oxygen in arterial blood (PaO2)/fraction of inspired oxygen (FiO2) ratio less than 200 mmHg (regardless of positive end expiratory pressure [PEEP]) 1.3. Chest radiograph: bilateral infiltrates seen on frontal chest radiograph 1.4. Pulmonary artery wedge (PAW): less than 18 mmHg when measured or no clinical evidence of left atrial hypertension 2. Lung function testing with body plethysmography-revealed bronchial asthma 3. Patients with severe sepsis 4. Aged 18 to 70 years, both genders |
| Key exclusion criteria | No written informed consent is obtained |
| Date of first enrolment | 01/01/2005 |
| Date of final enrolment | 01/01/2011 |
Locations
Countries of recruitment
- Germany
Study participating centre
Klinik fur Anasthesiologie und Intensivmedizin
Essen
45122
Germany
45122
Germany
Results and Publications
| Individual participant data (IPD) Intention to share | No |
|---|---|
| IPD sharing plan summary | Not provided at time of registration |
| IPD sharing plan |
Study outputs
| Output type | Details | Date created | Date added | Peer reviewed? | Patient-facing? |
|---|---|---|---|---|---|
| Results article | results | 01/11/2008 | Yes | No |
