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

Brief Title

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

Official Title

Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis

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.

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 Type


Primary Outcome

To distinguish between CADASIL subjects with migraine and without migraine




* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

March 2009

Completion Date

March 2012

Primary Completion Date

March 2012

Eligibility Criteria

        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




18 Years - N/A

Accepts Healthy Volunteers



Swati A Sathe, MD, MS, , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID

NYU IRB #09-0214

Responsible Party


Study Sponsor

NYU Langone Health

Study Sponsor

Swati A Sathe, MD, MS, Principal Investigator, NYU School of Medicine, Division of Neurogenetics

Verification Date

January 2013