Cornelia de Lange SyndromeNCT03113877
Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS)
An observational study of Cornelia de Lange Syndrome, run by Mayo Clinic at 1 site in United States.
Trial summary
Based on survey data, individuals with Cornelia de Lange Syndrome (CdLS) often experience symptoms of autonomic dysfunction however there are no reported studies in which these patients have had objective testing of the autonomic nervous system. Read more about this study
- Who is it for?
- Ages 8 to 18 years
- Conditions the study is for
- Cornelia de Lange Syndrome
- What is being tested?
- Autonomic Dysfunction Testing
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- Aug 2016to 1 Sep 2017
- 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 8 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Patients with CDLS reached through national distribution list through the CdLS Foundation with an invitation to volunteer.
Who may be able to join
- Pediatric patients (aged 8-17 years of age) with Cornelia de Lange syndrome.
- Consent obtained from responsible guardian.
Who cannot join
- Patients less than age 8 or 18 and older
- Female patients known to be pregnant
- Individuals not thought to be able to tolerate the testing.
- Concomitant therapy with anticholinergic, alpha-adrenergic antagonists, beta-adrenergic antagonists or other medications which could interfere with autonomic testing. Patients may participate if the potentially interfering medication is held for five half-lives prior to the study
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS), a Pilot Study.
Based on survey data, individuals with Cornelia de Lange Syndrome (CdLS) often experience symptoms of autonomic dysfunction however there are no reported studies in which these patients have had objective testing of the autonomic nervous system. This is a pilot study in which patients with CdLS will undergo the standard clinical testing for autonomic dysfunction with a autonomic reflex screen and thermoregulatory sweat test.
- Conditions
- Cornelia de Lange Syndrome
- Being tested
- Autonomic Dysfunction Testing
- Medical subject headings
- De Lange Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Autonomic Dysfunction TestingOther
The participants with CdLS will complete the COMPASS-31 survey and will complete standard clinical testing for autonomic dysfunction including an autonomic reflex screen (tilt table and quantitative sudomotor axon reflex testing) and thermoregulatory sweat test (TST).
| Study group | Role | What they receive |
|---|---|---|
| Clinical Testing for Autonomic Dysfunction | COMPASS-31 Survey completion. Autonomic Reflex Screen. Thermoregulatory Swear Test. Receives: Other: Autonomic Dysfunction Testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients who tolerated 70 degree head up tilt table test
Patients tolerating at least 5 minutes of tilt table
Measured: 1 year
Number of patients who show evidence of dysautonomia
Dysautonomia measured by excessive heart rate (>40 bpm) on a tilt table test or reduced sweating on a thermoregulatory sweat test.
Measured: 1 year
Number of patients who tolerated thermoregulatory sweat test
Patients tolerating at least 15 minutes of thermoregulatory sweat test
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Apr 2017
- Study startAug 2016
- Primary completion1 Sep 2017
- Study completion1 Sep 2017
Why it stopped: Difficulty in recruitment, Funding has run out.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cornelia de Lange SyndromeStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe 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 only
- Time perspective
- Prospective
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Amie E. Jones, M.D., Mayo Clinic
- Investigators
- Amie E Jones, MD, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03113877
- Sponsor's protocol ID
- 15-003782
- Status last verified
- Dec 2018
- First submitted
- 16 Nov 2016
- Last updated
- 6 Dec 2018
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Dec 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS), a Pilot Study.
- ClinicalTrials.gov ID
- NCT03113877
- Acronym / sponsor ID
- 15-003782
- Conditions
- Cornelia de Lange Syndrome
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Difficulty in recruitment, Funding has run out.
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- Aug 2016
- Primary completion
- 1 Sep 2017 (actual)
- Study completion
- 1 Sep 2017 (actual)
- First posted
- 14 Apr 2017 (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.
Based on survey data, individuals with Cornelia de Lange Syndrome (CdLS) often experience symptoms of autonomic dysfunction however there are no reported studies in which these patients have had objective testing of the autonomic nervous system. This is a pilot study in which patients with CdLS will undergo the standard clinical testing for autonomic dysfunction with a autonomic reflex screen and thermoregulatory sweat test.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Clinical Testing for Autonomic Dysfunction | – | Other: Autonomic Dysfunction TestingCOMPASS-31 Survey completion. Autonomic Reflex Screen. Thermoregulatory Swear Test. |
Who may qualify
- Ages
- 8 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Patients with CDLS reached through national distribution list through the CdLS Foundation with an invitation to volunteer.
Key inclusion criteria (2 listed)
- Pediatric patients (aged 8-17 years of age) with Cornelia de Lange syndrome.
- Consent obtained from responsible guardian.
Key exclusion criteria (4 listed)
- Patients less than age 8 or 18 and older
- Female patients known to be pregnant
- Individuals not thought to be able to tolerate the testing.
- Concomitant therapy with anticholinergic, alpha-adrenergic antagonists, beta-adrenergic antagonists or other medications which could interfere with autonomic testing. Patients may participate if the potentially interfering medication is held for five half-lives prior to the study
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 |
|---|---|---|
| Autonomic Dysfunction TestingThe participants with CdLS will complete the COMPASS-31 survey and will complete standard clinical testing for autonomic dysfunction including an autonomic reflex screen (tilt table and quantitative sudomotor axon reflex testing) and thermoregulatory sweat test (TST). | Other | Clinical Testing for Autonomic Dysfunction |
Primary outcome
Number of patients who tolerated 70 degree head up tilt table test
Time frame: 1 year
Patients tolerating at least 5 minutes of tilt table
Number of patients who show evidence of dysautonomia
Time frame: 1 year
Dysautonomia measured by excessive heart rate (>40 bpm) on a tilt table test or reduced sweating on a thermoregulatory sweat test.
Number of patients who tolerated thermoregulatory sweat test
Time frame: 1 year
Patients tolerating at least 15 minutes of thermoregulatory sweat test
Results and safety
The study was stopped early (reason given: Difficulty in recruitment, Funding has run out.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Dec 2018.
- Individual participant dataSharing planned: No
Related trials for Cornelia de Lange Syndrome
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
Not yet recruitingPhase 2
Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome
Cornelia de Lange Syndrome
Recruiting
Behavioral Assessment and Treatment of Problem Behavior in Children With Cornelia de Lange Syndrome
Cornelia de Lange Syndrome
RecruitingPhase 2/3
Cornelia De Lange Syndrome: Assessing Positive Effects of Lithium Treatment
Cornelia De Lange Syndrome
RecruitingObservational study
GROWing Up With Rare GENEtic Syndromes
Prader-Willi Syndrome, PWS-like Syndrome
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.
Amie E Jones, MD principal investigator
Mayo Clinic
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 Cornelia de Lange Syndrome, run by Mayo Clinic at 1 site in United States.
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 2 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: stopped early, as of the sponsor's last update on 6 Dec 2018. 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 United States. 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?
The study was stopped early (reason given: Difficulty in recruitment, Funding has run out.). 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?
Number of patients who tolerated 70 degree head up tilt table test (time frame: 1 year). The study lists 3 primary outcomes in all. 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 6 Dec 2018.