Classical Lissencephalies and Subcortical Band HeterotopiasNCT05185414
Combining Exome and Transcriptome Data to Unravel the Genetic Basis of the Lissencephalies
A study testing Venipuncture and skin biopsy for RNA extraction in people with Classical Lissencephalies and Subcortical Band Heterotopias, run by Universitair Ziekenhuis Brussel at 1 site in Belgium.
Trial summary
Malformations of cortical development (MCD) are a heterogenous group of brain malformations including lissencephaly, heterotopia and polymicrogyria. The lissencephaly spectrum (including lissencephaly, pachygyria and subcortical band heterotopia) is a well-defined group of MCD with a strong monogenetic basis. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Classical Lissencephalies and Subcortical Band Heterotopias
- What is being tested?
- Venipuncture and skin biopsy for RNA extraction
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 1 siteBelgium
- Study dates
- Jan 2022to Sep 2025
- Phase
- Interventional
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Overall:
- anomaly on MRI of the lissencephaly spectrum (lissencephaly, pachygyria, subcortical band heterotopia
- Diagnostic track:
- No established genetic diagnosis by conventional WES/WGS
- Research track:
- An established genetic diagnosis by conventinal WES/WGS
Who cannot join
- No anomaly of the lissencephaly spectrum on MRI
Trial locations and contacts
1 site in 1 country.
Katrien STOUFFS, Prof Dr contact
Belgium1 site
UZ Brussel
Jette, Brussels Capital, 1090
Ellen RIJCKMANS, Dr, +32476328726, ellen.rijckmans@uzbrussel.be
Katrien STOUFFS, Prof Dr, katrien.stouffs@uzbrussel.be
About this study
Malformations of cortical development (MCD) are a heterogenous group of brain malformations including lissencephaly, heterotopia and polymicrogyria. The lissencephaly spectrum (including lissencephaly, pachygyria and subcortical band heterotopia) is a well-defined group of MCD with a strong monogenetic basis. Using current molecular techniques, a causative variant is detected in approximately 80% of individuals with lissencephaly. In a routine diagnostic setting, exome-based gene panels are most frequently used while whole exome sequencing (WES) and whole genome sequencing (WGS) are increasingly being implemented. Both techniques have their shortcomings including the detection of small copy number variants, the identification of pathogenic variants in non-coding regions as well as variant interpretation. The parallel use of quantitative RNA sequencing, measuring differences in RNA expression could be a possible solution for these shortcomings. The proposed research project will for the first time 1) evaluate the added value of WES/WGS combined with quantitative RNA sequencing for the identification of novel genes in individuals with lissencephaly, 2) identify the optimal sampling tissue for RNA sequencing in complex neurological phenotypes and 3) use RNA expression data to provide an evidence base for the current lissencephaly classification.
Read the detailed description
As mentioned before, lissencephalies have a strong monogenetic base in contrast to other brain malformations. Approximately 80% percent of the lissencephalies can be genetically diagnosed by standard WES or WGS.1 In the remaining 20% percent of unsolved cases quantitative RNA sequencing could make a considerable difference. By identifying RNA expression patterns in lissencephalies we will try to provide unsolved lissencephaly cases with a genetic diagnosis. A genetic diagnosis is im-portant in terms of predicting associated problems, follow-up, prognosis and in some cases family planning (e.g. pre-implantation genetic testing). This study will also investigate the additional diagnostic yield of RNA sequencing in lissencephalies and by extension in the MCD spectrum. And, if indicated, the feasibility of implementing RNA sequencing in the standard diagnostic work-up.
High efficiency in identifying new pathogenic variants and novel gene annotation can be expected because of the strong monogenetic base. These novel variants and gene annotation are indispensable for better understanding the origin and pathophysiology of the lissencephaly spectrum and neuronal migration.
The functional impact of newly discovered genes can be further investigated by the innovative CRISPR-Cas9 method. This gene-editing technique allows researchers to create knock-out or even knock-in genes, as an opportunity to investigate novel annotated genes and their functional consequences. Although it is beyond the scope of this study, it is an interesting item for future joined research projects, within our research group or in collaboration with others. During this study, also genetically diagnosed lissencephaly cases will be subjected to RNA sequencing. The current classifi-cation of lissencephalies is based on pathogenic variants and biological pathways. Alterations in RNA-expression pattern could possibly shine a new light on this classification.
This study will also evaluate which sampling tissues are most suited for RNA extraction and sequencing. Considerations to make include the targeted quality of the extracted RNA and differences in tissue-specific gene expression. Mouth swaps, although non-invasive, are not suited for RNA extraction because of the natural oral flora with multiple viruses and bacteria (exogenous genetic material). Fibroblast-derived RNA is considered to be of good quality, but a skin biopsy is required and considered relatively invasive. Whole blood is obtained by minimal invasive techniques, but gene expression may be of poorer quality compared to fibroblasts.
The first part of the study is performed in a diagnostic setting in unsolved lissencephaly cases. Fibroblasts will be obtained by skin biopsy (punch). RNA seq data will be extracted from fibroblasts and blood. This RNA seq data will be analyzed in search for new pathogenic variants. When new pathogenic variants are identified in the RNA seq data, existing WES data will be reanalyzed. If neces-sary, subsequent WGS will be performed. When a genetic diagnosis is obtained, RNA seq and WES/WGS data will be transferred to the research part of the study.
A second part of the study is performed in a research setting. Lissencephaly patients with a genetic diagnosis will be proposed to donate a skin biopsy and . RNA seq data will be extracted from fibroblasts and blood as in the diagnostic track. In the RNA seq data two items will be observed. Firstly, has RNA seq data extracted from fibroblasts a major advantage over RNA seq data extracted from blood in terms of variant detection? Secondly, can RNA patterns be identified in common affected pathways?
- Being tested
- Venipuncture and skin biopsy for RNA extraction
- Keywords
- Lissencephaly, rna sequencing
- Medical subject headings
- Classical Lissencephalies and Subcortical Band Heterotopias, Lissencephaly
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Venipuncture and skin biopsy for RNA extractionDiagnostic test
- Blood sampling (standard venipuncture)
- Skin biopsy (fibroblasts)
| Study group | Role | What they receive |
|---|---|---|
| RNA sequencing in genetically solved lissencephaly cases | Other | RNA expression patterns in lissencephalies. RNA sequencing will be applied to the genetically solved lissencephaly cases. The acquired information on RNA expression patterns will be implemented in unsolved lissencephaly cases. Receives: Diagnostic Test: Venipuncture and skin biopsy for RNA extraction |
| RNA sequencing in genetically unsolved lissencephaly cases | Other | Obtain a genetic diagnosis in unsolved lissencephaly cases by implementation of RNA expression patterns obtained in arm 1. Receives: Diagnostic Test: Venipuncture and skin biopsy for RNA extraction |
What is being measured
The primary outcome is the main question the study is designed to answer.
Additional diagnostic yield of RNA seq in clinical practice
Does combined WES/WGS and rna seq approach increase the diagnostic yield for lissencephalies compared to conventional WES/WGS? If yes, to what extend? Can it be implemented in the standard diagnostic flowcharts?
This study will combine WES and (quantitative) RNA sequencing in a subgroup of the MCD spectrum. It is estimated that 80% percent of the lissencephalies can be genetically diagnosed by standard WES or WGS, leaving +/- 20% of cases unsolved. WGS will be applied in specific cases where WES remains negative (e.g. alterations in RNA expression pattern). This approach has never been applied to MCD before. Most accurate numbers can be derived from the few case series that have been published, where quantitative RNA sequencing was found to extend the diagnostic yield between 7 and 35%. These results are based on small case series, consisting of heterogenous phenotypes and are difficult to extrapolate to the proposed research set-up based on a well-delineated phenotype.
Measured: 4 years
Secondary outcomes (2)
Suited sampling tissue for rna sequencing
What is the added value of fibroblasts sampling compared to standard blood sampling for quantitative RNA sequencing in the context of lissencephalies?
Literature suggests that gene expression fluctuates between different tissues. Small case series suggest that the expression of genes involved in neurological phenotypes is better in fibroblast tissue compared to whole blood. In three out of six cases the pathogenic variant was not discovered by RNA analysis on whole blood, nevertheless that RNA analysis on fibroblast tissue was able to uncover all six pathogenic variants (Murdock et al. 2020). An objective of this study is to compare results of quantitative RNA sequencing on whole blood versus fibroblasts in a large case series. Pros and cons of blood sampling versus fibroblasts have to be taken into account.
Measured: 4 years
rna expression in lissencephalies
The number of genes involved in the lissencephaly spectrum remains limited. Besides identify-ing new genes involved in lissencephaly, a third study objective will focus on the RNA expression pattern in known lissencephaly genes. A total of 21 lissencephaly genes have been described (Di Donato et al. (2018)) and others including 11 genes in which alterations are seen more frequently. By performing RNA sequencing on blood and fibroblast samples from patients with known pathogenic variants in these genes, we will try to identify RNA sequencing patterns and, if possible, biomarkers specific for these genes or groups of genes. This will enable us to 1) to predict the genes or pathways to focus on in patients with undiagnosed lissencephalies and 2) to better understand phenotype / genotype correlations and possibly 3) to make an alternative classification of lissencephalies.
Measured: 4 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jan 2022
- Study startJan 2022 (estimated)
- Primary completionOct 2024 (estimated)
- Study completionSep 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Classical Lissencephalies and Subcortical Band HeterotopiasStudies of the same condition, open and under way.
- More trials run by Universitair Ziekenhuis BrusselThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Model description
- Diagnostic track: apply rna sequencing on lissencephaly patients without genetic diagnosis to establish diagnosis Research track: apply rna sequencing on lissencephaly patient with an established genetic diagnosis to investigate additional diagnositc yield, suited sampling tissue and rna patterns
- Masking
- None (open label)
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Universitair Ziekenhuis Brussel
- Sponsor type
- University, hospital or other
- Collaborators
- Marguerite - Marie Delacroix Foundation
- Responsible party
- Sponsor
- Investigators
- Ellen RIJCKMANS, Dr, Principal investigator, UZ Brussel - Vrije Universiteit Brussel
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05185414
- Sponsor's protocol ID
- TRANSC_LIS
- Status last verified
- Nov 2021
- First submitted
- 22 Dec 2021
- Last updated
- 11 Jan 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Might change in the future
Publications
Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Riviere JB, Zaki MS; University of Washington Center for Mendelian Genomics; Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.
PubMed 29671837Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28.
PubMed 30827497Severino M, Geraldo AF, Utz N, Tortora D, Pogledic I, Klonowski W, Triulzi F, Arrigoni F, Mankad K, Leventer RJ, Mancini GMS, Barkovich JA, Lequin MH, Rossi A. Definitions and classification of malformations of cortical development: practical guidelines. Brain. 2020 Oct 1;143(10):2874-2894. doi: 10.1093/brain/awaa174.
PubMed 32779696Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Muller MF, Yepez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA; Undiagnosed Diseases Network; Lee B. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 Jan 4;131(1):e141500. doi: 10.1172/JCI141500.
PubMed 33001864
Study at a glance
From the registry record, last updated by the sponsor on 11 Jan 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Combining Exome and Transcriptome Data to Unravel the Genetic Basis of the Lissencephalies
- ClinicalTrials.gov ID
- NCT05185414
- Acronym / sponsor ID
- TRANSC_LIS
- Keywords
- Lissencephaly, rna sequencing
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Universitair Ziekenhuis BrusselUniversity, hospital or other
- Collaborators
- Marguerite - Marie Delacroix Foundation
- Study start
- Jan 2022 (estimated)
- Primary completion
- Oct 2024 (estimated)
- Study completion
- Sep 2025 (estimated)
- First posted
- 11 Jan 2022 (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.
Malformations of cortical development (MCD) are a heterogenous group of brain malformations including lissencephaly, heterotopia and polymicrogyria. The lissencephaly spectrum (including lissencephaly, pachygyria and subcortical band heterotopia) is a well-defined group of MCD with a strong monogenetic basis. Using current molecular techniques, a causative variant is detected in approximately 80% of individuals with lissencephaly. In a routine diagnostic setting, exome-based gene panels are most frequently used while whole exome sequencing (WES) and whole genome sequencing (WGS) are increasingly being implemented. Both techniques have their shortcomings including the detection of small copy number variants, the identification of pathogenic variants in non-coding regions as well as variant interpretation. The parallel use of quantitative RNA sequencing, measuring differences in RNA expression could be a possible solution for these shortcomings. The proposed research project will for the first time 1) evaluate the added value of WES/WGS combined with quantitative RNA sequencing for the identification of novel genes in individuals with lissencephaly, 2) identify the optimal sampling tissue for RNA sequencing in complex neurological phenotypes and 3) use RNA expression data to provide an evidence base for the current lissencephaly classification.
Detailed description
As mentioned before, lissencephalies have a strong monogenetic base in contrast to other brain malformations. Approximately 80% percent of the lissencephalies can be genetically diagnosed by standard WES or WGS.1 In the remaining 20% percent of unsolved cases quantitative RNA sequencing could make a considerable difference. By identifying RNA expression patterns in lissencephalies we will try to provide unsolved lissencephaly cases with a genetic diagnosis. A genetic diagnosis is im-portant in terms of predicting associated problems, follow-up, prognosis and in some cases family planning (e.g. pre-implantation genetic testing). This study will also investigate the additional diagnostic yield of RNA sequencing in lissencephalies and by extension in the MCD spectrum. And, if indicated, the feasibility of implementing RNA sequencing in the standard diagnostic work-up.
High efficiency in identifying new pathogenic variants and novel gene annotation can be expected because of the strong monogenetic base. These novel variants and gene annotation are indispensable for better understanding the origin and pathophysiology of the lissencephaly spectrum and neuronal migration.
The functional impact of newly discovered genes can be further investigated by the innovative CRISPR-Cas9 method. This gene-editing technique allows researchers to create knock-out or even knock-in genes, as an opportunity to investigate novel annotated genes and their functional consequences. Although it is beyond the scope of this study, it is an interesting item for future joined research projects, within our research group or in collaboration with others. During this study, also genetically diagnosed lissencephaly cases will be subjected to RNA sequencing. The current classifi-cation of lissencephalies is based on pathogenic variants and biological pathways. Alterations in RNA-expression pattern could possibly shine a new light on this classification.
This study will also evaluate which sampling tissues are most suited for RNA extraction and sequencing. Considerations to make include the targeted quality of the extracted RNA and differences in tissue-specific gene expression. Mouth swaps, although non-invasive, are not suited for RNA extraction because of the natural oral flora with multiple viruses and bacteria (exogenous genetic material). Fibroblast-derived RNA is considered to be of good quality, but a skin biopsy is required and considered relatively invasive. Whole blood is obtained by minimal invasive techniques, but gene expression may be of poorer quality compared to fibroblasts.
The first part of the study is performed in a diagnostic setting in unsolved lissencephaly cases. Fibroblasts will be obtained by skin biopsy (punch). RNA seq data will be extracted from fibroblasts and blood. This RNA seq data will be analyzed in search for new pathogenic variants. When new pathogenic variants are identified in the RNA seq data, existing WES data will be reanalyzed. If neces-sary, subsequent WGS will be performed. When a genetic diagnosis is obtained, RNA seq and WES/WGS data will be transferred to the research part of the study.
A second part of the study is performed in a research setting. Lissencephaly patients with a genetic diagnosis will be proposed to donate a skin biopsy and . RNA seq data will be extracted from fibroblasts and blood as in the diagnostic track. In the RNA seq data two items will be observed. Firstly, has RNA seq data extracted from fibroblasts a major advantage over RNA seq data extracted from blood in terms of variant detection? Secondly, can RNA patterns be identified in common affected pathways?
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- Diagnostic track: apply rna sequencing on lissencephaly patients without genetic diagnosis to establish diagnosis Research track: apply rna sequencing on lissencephaly patient with an established genetic diagnosis to investigate additional diagnositc yield, suited sampling tissue and rna patterns
| Arm | Type | Receives |
|---|---|---|
| RNA sequencing in genetically solved lissencephaly cases | Other | Diagnostic Test: Venipuncture and skin biopsy for RNA extractionRNA expression patterns in lissencephalies. RNA sequencing will be applied to the genetically solved lissencephaly cases. The acquired information on RNA expression patterns will be implemented in unsolved lissencephaly cases. |
| RNA sequencing in genetically unsolved lissencephaly cases | Other | Diagnostic Test: Venipuncture and skin biopsy for RNA extractionObtain a genetic diagnosis in unsolved lissencephaly cases by implementation of RNA expression patterns obtained in arm 1. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- anomaly on MRI of the lissencephaly spectrum (lissencephaly, pachygyria, subcortical band heterotopia
- No established genetic diagnosis by conventional WES/WGS
- An established genetic diagnosis by conventinal WES/WGS
Key exclusion criteria (1 listed)
- No anomaly of the lissencephaly spectrum on MRI
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 |
|---|---|---|
| Venipuncture and skin biopsy for RNA extraction* Blood sampling (standard venipuncture) * Skin biopsy (fibroblasts) | Diagnostic test | RNA sequencing in genetically solved lissencephaly cases, RNA sequencing in genetically unsolved lissencephaly cases |
Primary outcome
Additional diagnostic yield of RNA seq in clinical practice
Time frame: 4 years
Does combined WES/WGS and rna seq approach increase the diagnostic yield for lissencephalies compared to conventional WES/WGS? If yes, to what extend? Can it be implemented in the standard diagnostic flowcharts? This study will combine WES and (quantitative) RNA sequencing in a subgroup of the MCD spectrum. It is estimated that 80% percent of the lissencephalies can be genetically diagnosed by standard WES or WGS, leaving +/- 20% of cases unsolved. WGS will be applied in specific cases where WES remains negative (e.g. alterations in RNA expression pattern). This approach has never been applied to MCD before. Most accurate numbers can be derived from the few case series that have been published, where quantitative RNA sequencing was found to extend the diagnostic yield between 7 and 35%. These results are based on small case series, consisting of heterogenous phenotypes and are difficult to extrapolate to the proposed research set-up based on a well-delineated phenotype.
2 secondary outcomes
Suited sampling tissue for rna sequencing
Time frame: 4 years
rna expression in lissencephalies
Time frame: 4 Years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Jan 2022.
- Background: PubMed 29671837Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Riviere JB, Zaki MS; University of Washington Center for Mendelian Genomics; Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.
- Background: PubMed 30827497Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28.
- Background: PubMed 32779696Severino M, Geraldo AF, Utz N, Tortora D, Pogledic I, Klonowski W, Triulzi F, Arrigoni F, Mankad K, Leventer RJ, Mancini GMS, Barkovich JA, Lequin MH, Rossi A. Definitions and classification of malformations of cortical development: practical guidelines. Brain. 2020 Oct 1;143(10):2874-2894. doi: 10.1093/brain/awaa174.
- Background: PubMed 33001864Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Muller MF, Yepez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA; Undiagnosed Diseases Network; Lee B. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 Jan 4;131(1):e141500. doi: 10.1172/JCI141500.
- Individual participant dataSharing planned: No. Might change in the future
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.
Katrien STOUFFS, Prof Dr contact
Ellen RIJCKMANS, Dr principal investigator
UZ Brussel - Vrije Universiteit Brussel
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Venipuncture and skin biopsy for RNA extraction in people with Classical Lissencephalies and Subcortical Band Heterotopias, run by Universitair Ziekenhuis Brussel at 1 site in Belgium.
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 6 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 11 Jan 2022. 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 Belgium. 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 Ellen RIJCKMANS, Dr (+32476328726, ellen.rijckmans@uzbrussel.be), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Additional diagnostic yield of RNA seq in clinical practice (time frame: 4 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05185414, which also lists 4 linked publications.
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 11 Jan 2022.