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Research Study on Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01114815
Recruitment Status : Completed
First Posted : May 3, 2010
Last Update Posted : January 21, 2013
Information provided by (Responsible Party):
NYU Langone Health

Brief 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 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.

Condition or disease

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.

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Study Type : Observational
Actual Enrollment : 100 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis
Study Start Date : March 2009
Actual Primary Completion Date : March 2012
Actual Study Completion Date : March 2012

Primary Outcome Measures :
  1. 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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Anyone with confirmed diagnosis of CADASIL

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • n/a

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01114815

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United States, New York
NYU School of Medicine
New York, New York, United States, 10016
Sponsors and Collaborators
NYU Langone Health
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Principal Investigator: Swati A Sathe, MD, MS NYU School of Medicine, Division of Neurogenetics

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Responsible Party: NYU Langone Health Identifier: NCT01114815     History of Changes
Other Study ID Numbers: NYU IRB #09-0214
First Posted: May 3, 2010    Key Record Dates
Last Update Posted: January 21, 2013
Last Verified: January 2013
Keywords provided by NYU Langone Health:
autosomal dominant
subcortical infarcts
Additional relevant MeSH terms:
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Dementia, Multi-Infarct
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Dementia, Vascular
Cerebral Arterial Diseases
Intracranial Arterial Diseases
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, Inborn
Cerebral Infarction
Brain Infarction
Brain Ischemia
Neurocognitive Disorders
Mental Disorders