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

NCT01114815 | Completed DMC

• 1 other identifier: NYU IRB #09-0214
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

CADASIL

Keywords

CADASIL; cerebral; autosomal dominant; arteriopathy; subcortical infarcts; leukoencephalopathy

Outcome Measures

Primary Outcomes (1)

• To distinguish between CADASIL subjects with migraine and without migraine

  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.

  Retrospective data was collected- cross sectional case control study- history of migraine until the time of enrollment was collected

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Anyone with confirmed diagnosis of CADASIL

You may qualify if:

• 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.

You may not qualify if:

• n/a

Sponsors & Collaborators

• NYU Langone Health: lead

Study Sites (1)

NYU School of Medicine

New York, New York, 10016, United States

Location

Related Publications (4)

• Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG, Krebs MO, Julien J, Dubois B, Ducrocq X, et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet. 1995 Oct 7;346(8980):934-9. doi: 10.1016/s0140-6736(95)91557-5.

  PMID: 7564728 BACKGROUND

• Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Mohr JP. The natural history of CADASIL: a pooled analysis of previously published cases. Stroke. 1999 Jun;30(6):1230-3. doi: 10.1161/01.str.30.6.1230.

  PMID: 10356105 BACKGROUND

• Vahedi K, Chabriat H, Levy C, Joutel A, Tournier-Lasserve E, Bousser MG. Migraine with aura and brain magnetic resonance imaging abnormalities in patients with CADASIL. Arch Neurol. 2004 Aug;61(8):1237-40. doi: 10.1001/archneur.61.8.1237.

  PMID: 15313840 BACKGROUND

• Sathe S, DePeralta E, Pastores G, Kolodny EH. Acute confusional migraine may be a presenting feature of CADASIL. Headache. 2009 Apr;49(4):590-6. doi: 10.1111/j.1526-4610.2009.01363.x. Epub 2009 Feb 25.

  PMID: 19245392 BACKGROUND

MeSH Terms

Conditions

CADASIL; Multiple Pterygium Syndrome, Autosomal Dominant; Leukoencephalopathies

Condition Hierarchy (Ancestors)

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

Study Officials

• Swati A Sathe, MD, MS

  NYU School of Medicine, Division of Neurogenetics

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 29, 2010
• First Posted: May 3, 2010
• Study Start: March 1, 2009
• Primary Completion: March 1, 2012
• Study Completion: March 1, 2012
• Last Updated: January 21, 2013

Record last verified: 2013-01

Locations

US (1)