CADASILNCT01114815
Research Study on Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
An observational study of CADASIL, run by NYU Langone Health at 1 site in United States.
Trial summary
The purpose of this study is to delineate early neurological features and their progression in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in order to facilitate early diagnosis, prevent erroneous diagnosis and mistreatment and improve physician… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- CADASIL
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- Mar 2009to Mar 2012
- 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: Anyone with confirmed diagnosis of CADASIL
Who may be able to join
- Diagnosis of CADASIL confirmed by Notch3 sequencing and/or skin biopsy.
- Age: 18+
- Subjects with speech, motor and/ or cognitive impairment will be included if their surrogate can provide the necessary information.
Who cannot join
- n/a
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis
The purpose of this study is to delineate early neurological features and their progression in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in order to facilitate early diagnosis, prevent erroneous diagnosis and mistreatment and improve physician education about this relatively common yet under-recognized dementing disorder.
Patients with CADASIL suffer from a variant from migraine that differs from wild type migraine in terms of its severity, progressive nature and underlying pathophysiology. Recurrent stereotypic acute confusional state associated with the headache episodes in patients with CADASIL is a distinctive phenomenon, which if recognized will lead to an earlier and accurate diagnosis of this condition.
Read more
Specific Aims:
- Characterize the nature, frequency and severity of migraine in patients with CADASIL.
- Delineate the phenomenon of acute confusional migraine as a distinct subgroup of migraine and establish its prevalence in patients with CADASIL.
- Determine the latency between the onset of neurological symptoms including migraine, and diagnosis of CADASIL and the prevalence of misdiagnosis.
Read the detailed description
New York University School of Medicine, Division of Neurogenetics is conducting a new research study for patients with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). We are inviting anyone age 18 or older with a confirmed diagnosis of CADASIL to participate. We greatly appreciate your help in this regard. Please be assured that if you participate, all the information you, your relatives or your physicians provide will be held in strict confidence.
CADASIL is often misdiagnosed due to lack of awareness of this condition among health care providers and because the disease can closely mimic other neurological conditions. People with CADASIL struggle to find a doctor who has knowledge about this condition. The purpose of this study is to better understand the early symptoms of CADASIL so doctors may learn to diagnose it early.
This research study will be based on review of medical information provided by you or your health care giver. If you are interested, please contact us by telephone. We will mail a questionnaire for you to fill out and return to us, and request a copy of your brain MRI, test results and office notes from your doctor. We will contact some people for a more detailed telephone interview. Your responses and questionnaire are still valuable even if we do not get other records. The estimated time to complete the questionnaire is about two hours. The telephone interview (if applicable) is expected to last for 30 to 45 minutes. It may be helpful to involve a family member or a friend while completing the questionnaire.
If you wish to participate in this study, please call our research office.We will tell you about the project and then, if you wish to participate, will mail you the questionnaires with return envelopes. Your participation and support is deeply appreciated.
- Conditions
- CADASIL
- Keywords
- CADASIL, cerebral, autosomal dominant, arteriopathy, subcortical infarcts, leukoencephalopathy
- Medical subject headings
- CADASIL, Multiple Pterygium Syndrome, Autosomal Dominant, Leukoencephalopathies
What is being measured
The primary outcome is the main question the study is designed to answer.
To distinguish between CADASIL subjects with migraine and without migraine
We sent a questionnaire to CADASIL subjects upon their consent to enroll in the study. The questionnaire addressed the history of migraine in till the time of enrollment. Other features such as history of stroke, memory involvement till enrollment was assessed in the questionnaire. The study aims at comparing the two groups- subjects with migraine and without migraine.
Measured: Retrospective data was collected- cross sectional case control study- history of migraine until the time of enrollment was collected
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 May 2010 (estimated)
- Study startMar 2009
- Primary completionMar 2012
- Study completionMar 2012
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 CADASILStudies of the same condition, open and under way.
- More trials run by NYU Langone HealthThe 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
- Retrospective
- Enrolment
- 100 participants (actual)
Sponsor and investigators
- Lead sponsor
- NYU Langone Health
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Swati A Sathe, MD, MS, Principal investigator, NYU School of Medicine, Division of Neurogenetics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01114815
- Sponsor's protocol ID
- NYU IRB #09-0214
- Status last verified
- Jan 2013
- First submitted
- 29 Apr 2010
- Last updated
- 21 Jan 2013
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG, Krebs MO, Julien J, Dubois B, Ducrocq X, et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet. 1995 Oct 7;346(8980):934-9. doi: 10.1016/s0140-6736(95)91557-5.
PubMed 7564728Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Mohr JP. The natural history of CADASIL: a pooled analysis of previously published cases. Stroke. 1999 Jun;30(6):1230-3. doi: 10.1161/01.str.30.6.1230.
PubMed 10356105Vahedi K, Chabriat H, Levy C, Joutel A, Tournier-Lasserve E, Bousser MG. Migraine with aura and brain magnetic resonance imaging abnormalities in patients with CADASIL. Arch Neurol. 2004 Aug;61(8):1237-40. doi: 10.1001/archneur.61.8.1237.
PubMed 15313840Sathe S, DePeralta E, Pastores G, Kolodny EH. Acute confusional migraine may be a presenting feature of CADASIL. Headache. 2009 Apr;49(4):590-6. doi: 10.1111/j.1526-4610.2009.01363.x. Epub 2009 Feb 25.
PubMed 19245392
Study at a glance
From the registry record, last updated by the sponsor on 21 Jan 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis
- ClinicalTrials.gov ID
- NCT01114815
- Acronym / sponsor ID
- NYU IRB #09-0214
- Conditions
- CADASIL
- Keywords
- CADASIL, cerebral, autosomal dominant, arteriopathy, subcortical infarcts, leukoencephalopathy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 100 participants (actual)
- Lead sponsor
- NYU Langone HealthUniversity, hospital or other
- Study start
- Mar 2009
- Primary completion
- Mar 2012 (actual)
- Study completion
- Mar 2012 (actual)
- First posted
- 3 May 2010 (estimated)
- 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.
The purpose of this study is to delineate early neurological features and their progression in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in order to facilitate early diagnosis, prevent erroneous diagnosis and mistreatment and improve physician education about this relatively common yet under-recognized dementing disorder.
Patients with CADASIL suffer from a variant from migraine that differs from wild type migraine in terms of its severity, progressive nature and underlying pathophysiology. Recurrent stereotypic acute confusional state associated with the headache episodes in patients with CADASIL is a distinctive phenomenon, which if recognized will lead to an earlier and accurate diagnosis of this condition.
Specific Aims:
- Characterize the nature, frequency and severity of migraine in patients with CADASIL.
- Delineate the phenomenon of acute confusional migraine as a distinct subgroup of migraine and establish its prevalence in patients with CADASIL.
- Determine the latency between the onset of neurological symptoms including migraine, and diagnosis of CADASIL and the prevalence of misdiagnosis.
Detailed description
New York University School of Medicine, Division of Neurogenetics is conducting a new research study for patients with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). We are inviting anyone age 18 or older with a confirmed diagnosis of CADASIL to participate. We greatly appreciate your help in this regard. Please be assured that if you participate, all the information you, your relatives or your physicians provide will be held in strict confidence.
CADASIL is often misdiagnosed due to lack of awareness of this condition among health care providers and because the disease can closely mimic other neurological conditions. People with CADASIL struggle to find a doctor who has knowledge about this condition. The purpose of this study is to better understand the early symptoms of CADASIL so doctors may learn to diagnose it early.
This research study will be based on review of medical information provided by you or your health care giver. If you are interested, please contact us by telephone. We will mail a questionnaire for you to fill out and return to us, and request a copy of your brain MRI, test results and office notes from your doctor. We will contact some people for a more detailed telephone interview. Your responses and questionnaire are still valuable even if we do not get other records. The estimated time to complete the questionnaire is about two hours. The telephone interview (if applicable) is expected to last for 30 to 45 minutes. It may be helpful to involve a family member or a friend while completing the questionnaire.
If you wish to participate in this study, please call our research office.We will tell you about the project and then, if you wish to participate, will mail you the questionnaires with return envelopes. Your participation and support is deeply appreciated.
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Anyone with confirmed diagnosis of CADASIL
Key inclusion criteria (3 listed)
- Diagnosis of CADASIL confirmed by Notch3 sequencing and/or skin biopsy.
- Age: 18+
- Subjects with speech, motor and/ or cognitive impairment will be included if their surrogate can provide the necessary information.
Key exclusion criteria (1 listed)
- n/a
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To distinguish between CADASIL subjects with migraine and without migraine
Time frame: Retrospective data was collected- cross sectional case control study- history of migraine until the time of enrollment was collected
We sent a questionnaire to CADASIL subjects upon their consent to enroll in the study. The questionnaire addressed the history of migraine in till the time of enrollment. Other features such as history of stroke, memory involvement till enrollment was assessed in the questionnaire. The study aims at comparing the two groups- subjects with migraine and without migraine.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Jan 2013.
- Background: PubMed 7564728Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG, Krebs MO, Julien J, Dubois B, Ducrocq X, et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet. 1995 Oct 7;346(8980):934-9. doi: 10.1016/s0140-6736(95)91557-5.
- Background: PubMed 10356105Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Mohr JP. The natural history of CADASIL: a pooled analysis of previously published cases. Stroke. 1999 Jun;30(6):1230-3. doi: 10.1161/01.str.30.6.1230.
- Background: PubMed 15313840Vahedi K, Chabriat H, Levy C, Joutel A, Tournier-Lasserve E, Bousser MG. Migraine with aura and brain magnetic resonance imaging abnormalities in patients with CADASIL. Arch Neurol. 2004 Aug;61(8):1237-40. doi: 10.1001/archneur.61.8.1237.
- Background: PubMed 19245392Sathe S, DePeralta E, Pastores G, Kolodny EH. Acute confusional migraine may be a presenting feature of CADASIL. Headache. 2009 Apr;49(4):590-6. doi: 10.1111/j.1526-4610.2009.01363.x. Epub 2009 Feb 25.
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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.
Swati A Sathe, MD, MS principal investigator
NYU School of Medicine, Division of Neurogenetics
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 CADASIL, run by NYU Langone Health 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 3 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: finished, as of the sponsor's last update on 21 Jan 2013. 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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 distinguish between CADASIL subjects with migraine and without migraine (time frame: Retrospective data was collected- cross sectional case control study- history of migraine until the time of enrollment was collected). 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 NCT01114815, 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 21 Jan 2013.