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

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.

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Key information

Conditions

CADASIL Brain Diseases Brain Infarction Brain Ischemia Cardiovascular Diseases Central Nervous System Diseases Cerebral Arterial Diseases Cerebral Infarction Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dementia Dementia, Vascular Genetic Diseases, Inborn Infarction Intracranial Arterial Diseases Ischemia Leukoencephalopathies Multiple Pterygium Syndrome, Autosomal Dominant Necrosis Nervous System Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Stroke Vascular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

NYU School of Medicine

New York, 10016, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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.

Sponsors and collaborators

Lead sponsor

NYU Langone Health

Other

Registry information

Official study title

Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis

Important dates

Study start: 2009
Primary completion: 2012
Study completion: 2012
First posted: May 3, 2010
Registry last updated: Jan 21, 2013

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed