Ehlers-Danlos SyndromeNCT05429996
Ultrastructural Collagen Markers in Ehlers Danlos Syndromes
An observational study of Ehlers-Danlos Syndrome and Classical Ehlers-Danlos Syndrome, run by University Health Network, Toronto at 1 site in Canada.
Trial summary
Establishing the diagnosis of Ehlers Danlos Syndromes (EDS)/generalized hypermobility spectrum disorders (G-HSD) is often problematic for patients. The absence of a precise unifying diagnosis in patients results in a significant emotional burden on the patient and caregivers, not to mention the hidden costs, including… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Ehlers-Danlos Syndrome, Classical Ehlers-Danlos Syndrome, Hypermobile EDS (hEDS)
- What is being tested?
- Skin Biopsy
- How many people
- 20 participants
- Where
- 1 siteCanada
- Study dates
- 31 Oct 2022to 1 Aug 2024
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Individuals with classical EDS and hypermobile EDS
Who may be able to join
- Adults aged between 18 and 60 years who can provide informed consent in English
- Able to read, speak, and comprehend English without the assistance of a translator
- Have been diagnosed with hypermobile EDS as per the 2017 EDS criteria; or with genetically confirmed classical EDS (age and sex-matched). This diagnosis is carried out by the UHN GoodHope EDS clinic routinely for all patients on the basis of clinical exam and genetic testing, if indicated.
Who cannot join
- Subjects under the age of 18
- Unable to speak, read and comprehend English
- Unable to provide consent (cognitive impairment)
- Pregnant women
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Decrypting the Ultrastructural Collagen Markers Using Quantitative Nano Histology: A Quest for Newer Diagnostic Test in Hypermobile Ehlers-Danlos Syndrome
Establishing the diagnosis of Ehlers Danlos Syndromes (EDS)/generalized hypermobility spectrum disorders (G-HSD) is often problematic for patients. The absence of a precise unifying diagnosis in patients results in a significant emotional burden on the patient and caregivers, not to mention the hidden costs, including multiple recurring visits to several medical specialists and associated social and economic costs. To date, while collagen ultra-scale morphological heterogeneity has been used to comment on an EDS diagnosis, the mechanical properties of the collagen remain mostly unexplored.
From a biophysical point of view, collagen affected with hEDS can be described as biomechanically deficient. In the case of EDS, the skin's abnormal elasticity can be directly related to the organization of the collagen network within the dermis. Quantitative Nanohistology (QNH) is a newer method to evaluate both the structural and mechanical properties of collagen in-situ histological sections.
Therefore, the aim of this study is to define histo-biophysical markers of two most common types of EDS i.e. classical EDS (cEDS) \& hypermobile EDS (hEDS) at the single collagen fibrils level and matrix and to further explore the origin of collagen fibril properties deficiency in hEDS and cEDS.
- Being tested
- Skin Biopsy
- Medical subject headings
- Ehlers-Danlos Syndrome, Ehlers-Danlos syndrome type 1, Ehlers-Danlos syndrome type 3
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin BiopsyOther
Skin biopsy specimens will be collected for both groups and subjected to quantitative nano histology using atomic force microscopy to assess for structural profile of a single collagen fibril
| Study group | Role | What they receive |
|---|---|---|
| Individuals with hypermobile EDS | Skin biopsy collection Receives: Other: Skin Biopsy | |
| Individuals with classical EDS | Skin biopsy collection Receives: Other: Skin Biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
to analyze percentage prevalence of abnormal morphological markers of single collagen fibril using atomic force microscopy
systemic nanoscale imaging to investigate the presence of morphological markers associated with each EDS type and compared to the normative data from the Bozec-lab obtained from healthy volunteers. These markers include fibrils D-banding periodicity, unwinding of the fibrils, variation in fibrils registration, and finally, cylindrical homogeneity (of the fibril
Measured: 3 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Jun 2022
- Study start31 Oct 2022
- Primary completion1 Jun 2024 (estimated)
- Study completion1 Aug 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ehlers-Danlos SyndromeStudies of the same condition, open and under way.
- More trials run by University Health Network, TorontoThe 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
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Health Network, Toronto
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Nimish Mittal, University Health Network, Toronto
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05429996
- Sponsor's protocol ID
- 21-5542.0
- Status last verified
- Nov 2023
- First submitted
- 17 Jun 2022
- Last updated
- 28 Nov 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Decrypting the Ultrastructural Collagen Markers Using Quantitative Nano Histology: A Quest for Newer Diagnostic Test in Hypermobile Ehlers-Danlos Syndrome
- ClinicalTrials.gov ID
- NCT05429996
- Acronym / sponsor ID
- 21-5542.0
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- University Health Network, TorontoUniversity, hospital or other
- Study start
- 31 Oct 2022 (actual)
- Primary completion
- 1 Jun 2024 (estimated)
- Study completion
- 1 Aug 2024 (estimated)
- First posted
- 24 Jun 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.
Establishing the diagnosis of Ehlers Danlos Syndromes (EDS)/generalized hypermobility spectrum disorders (G-HSD) is often problematic for patients. The absence of a precise unifying diagnosis in patients results in a significant emotional burden on the patient and caregivers, not to mention the hidden costs, including multiple recurring visits to several medical specialists and associated social and economic costs. To date, while collagen ultra-scale morphological heterogeneity has been used to comment on an EDS diagnosis, the mechanical properties of the collagen remain mostly unexplored.
From a biophysical point of view, collagen affected with hEDS can be described as biomechanically deficient. In the case of EDS, the skin's abnormal elasticity can be directly related to the organization of the collagen network within the dermis. Quantitative Nanohistology (QNH) is a newer method to evaluate both the structural and mechanical properties of collagen in-situ histological sections.
Therefore, the aim of this study is to define histo-biophysical markers of two most common types of EDS i.e. classical EDS (cEDS) \& hypermobile EDS (hEDS) at the single collagen fibrils level and matrix and to further explore the origin of collagen fibril properties deficiency in hEDS and cEDS.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Individuals with hypermobile EDS | – | Other: Skin BiopsySkin biopsy collection |
| Individuals with classical EDS | – | Other: Skin BiopsySkin biopsy collection |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Individuals with classical EDS and hypermobile EDS
Key inclusion criteria (3 listed)
- Adults aged between 18 and 60 years who can provide informed consent in English
- Able to read, speak, and comprehend English without the assistance of a translator
- Have been diagnosed with hypermobile EDS as per the 2017 EDS criteria; or with genetically confirmed classical EDS (age and sex-matched). This diagnosis is carried out by the UHN GoodHope EDS clinic routinely for all patients on the basis of clinical exam and genetic testing, if indicated.
Key exclusion criteria (4 listed)
- Subjects under the age of 18
- Unable to speak, read and comprehend English
- Unable to provide consent (cognitive impairment)
- Pregnant women
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 |
|---|---|---|
| Skin BiopsySkin biopsy specimens will be collected for both groups and subjected to quantitative nano histology using atomic force microscopy to assess for structural profile of a single collagen fibril | Other | Individuals with classical EDS, Individuals with hypermobile EDS |
Primary outcome
to analyze percentage prevalence of abnormal morphological markers of single collagen fibril using atomic force microscopy
Time frame: 3 months
systemic nanoscale imaging to investigate the presence of morphological markers associated with each EDS type and compared to the normative data from the Bozec-lab obtained from healthy volunteers. These markers include fibrils D-banding periodicity, unwinding of the fibrils, variation in fibrils registration, and finally, cylindrical homogeneity (of the fibril
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Nov 2023.
Related trials for Ehlers-Danlos Syndrome
RecruitingObservational study
Registry of Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
Not yet recruiting
COG+OT Telerehabilitation for Adults With Subjective Cognitive Complaints
Subjective Cognitive Complaints, Ehlers-Danlos Syndrome
RecruitingObservational study
Metabolic Phenotyping in vEDS
Vascular Ehlers-Danlos Syndrome, Vascular Ehlers Danlos Syndrome
Not yet recruitingObservational study
CLINICAL AND BIOLOGICAL DATABASE OF PATIENTS WITH NON-VASCULAR EHLERS-DANLOS SYNDROMES
Ehlers-Danlos Syndromes (EDS)
Not yet recruiting
Evaluation of the Role of Serum Tenascin-X Levels in the Diagnosis of Hypermobile Ehlers-Danlos Syndrome
Ehlers-Danlos Syndromes (EDS)
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.
The record lists no contact. Use the official record to reach the sponsor.
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 Ehlers-Danlos Syndrome and Classical Ehlers-Danlos Syndrome, run by University Health Network, Toronto at 1 site in Canada.
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 3 inclusion and 4 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 28 Nov 2023. 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 Canada. 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
to analyze percentage prevalence of abnormal morphological markers of single collagen fibril using atomic force microscopy (time frame: 3 months). 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 28 Nov 2023.