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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
New York University School of Medicine
ClinicalTrials.gov Identifier:
NCT01114815
First received: April 29, 2010
Last updated: January 18, 2013
Last verified: January 2013
  Purpose

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
CADASIL

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis

Resource links provided by NLM:


Further study details as provided by New York University School of Medicine:

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]
    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.


Enrollment: 100
Study Start Date: March 2009
Study Completion Date: March 2012
Primary Completion Date: March 2012 (Final data collection date for primary outcome measure)
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.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Anyone with confirmed diagnosis of CADASIL

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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01114815

Locations
United States, New York
NYU School of Medicine
New York, New York, United States, 10016
Sponsors and Collaborators
New York University School of Medicine
Investigators
Principal Investigator: Swati A Sathe, MD, MS NYU School of Medicine, Division of Neurogenetics
  More Information

Publications:
Responsible Party: New York University School of Medicine
ClinicalTrials.gov Identifier: NCT01114815     History of Changes
Other Study ID Numbers: NYU IRB #09-0214
Study First Received: April 29, 2010
Last Updated: January 18, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by New York University School of Medicine:
CADASIL
cerebral
autosomal dominant
arteriopathy
subcortical infarcts
leukoencephalopathy

Additional relevant MeSH terms:
CADASIL
Dementia, Multi-Infarct
Leukoencephalopathies
Cerebral Infarction
Brain Infarction
Brain Ischemia
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Dementia, Vascular
Stroke
Dementia
Vascular Diseases
Cardiovascular Diseases
Delirium, Dementia, Amnestic, Cognitive Disorders
Mental Disorders
Cerebral Small Vessel Diseases
Cerebral Arterial Diseases
Intracranial Arterial Diseases
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on August 28, 2014