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
Observational
Primary Outcome
To distinguish between CADASIL subjects with migraine and without migraine
Condition
CADASIL
Publications
* 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
100
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
Gender
All
Ages
18 Years - N/A
Accepts Healthy Volunteers
No
Contacts
Swati A Sathe, MD, MS, ,
Location Countries
United States
Location Countries
United States
Administrative Informations
NCT ID
NCT01114815
Organization ID
NYU IRB #09-0214
Responsible Party
Sponsor
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