Vascular Fundus Changes in Patients With High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI)

• ClinicalTrials.gov Identifier: NCT01356134
• Recruitment Status: Completed
• First Posted: May 19, 2011
• Last Update Posted: April 3, 2015
• Sponsor: Genetic Disease Investigators
• Collaborator: Optos, PLC
• Information provided by (Responsible Party): Diana Driscoll, O.D., Genetic Disease Investigators

Study Description

Brief Summary:

The investigators propose that evidence of chronic cerebrospinal venous insufficiency (CCSVI) may be evident in the vasculature of the fundus. The investigators will be examining fundi of multiple sclerosis patients and Ehlers-Danlos patients to see if evidence of CCSVI can be found in these patients having high risk for CCSVI. The investigators will read the fundus photos, compared to age-matched normals in a "blind" fashion.

Condition or disease
Ehlers-Danlos Syndrome; Multiple Sclerosis

Detailed Description:

Chronic Cerebrospinal Venous Insufficiency (CCSVI) has been proposed as the cause of numerous neurodegenerative diseases of the brain. CCSVI is the result of poor drainage of blood (and cerebral spinal fluid to some degree) from weakened or stenosed veins usually located in the cervical area (most notably the internal jugular veins). Although current focus and treatment of CCSVI is on multiple sclerosis, CCSVI has also been implicated as a potential cause of Alzheimer's disease and Parkinson's Disease. Additionally, patients with Ehlers-Danlos Syndrome (EDS) -- a disorder of connective tissue -- are more prone to developing multiple sclerosis than the general population. Many EDS patients are known to have weakened and abnormal blood vessels and 40 - 70% of EDS patients develop autonomic dysfunction in addition to numerous other symptoms found in patients with CCSVI. In the small subset of EDS and multiple sclerosis patients seen at Total Eye Care, the investigators have noticed a vascular irregularity (using the optomap® and examining the results under high magnification) which offers credence to the theory of CCSVI. Such objective data has been elusive, excepting for fMRI, ultrasound (to a limited degree) and venous angioplasty results. Current treatment of CCSVI involves the ballooning and sometimes stenting, of abnormally stenosed veins. The treatment of CCSVI offers hope to many patients suffering from multiple sclerosis. Although CCSVI research is in its infancy, many doctors believe that CCSVI is a significant portion of the solution to patients with neurodegenerative diseases of the brain. Because CCSVI is a vascular disorder, the investigators hypothesize that the investigators are able to screen candidates for CCSVI via the optomap®.

Study Design

• Study Type: Observational
• Actual Enrollment: 60 participants
• Observational Model: Case-Control
• Time Perspective: Cross-Sectional
• Official Title: Vascular Fundus Changes in Patients With High Probability of CCSVI (Chronic Cerebrospinal Venous Insufficiency)
• Study Start Date: May 2011
• Actual Primary Completion Date: April 2015
• Actual Study Completion Date: April 2015

Groups and Cohorts

Group/Cohort
Multiple sclerosis and or Ehlers-Danlos; Patients with suspected or confirmed cases of Ehlers Danlos Syndrome and or Multiple Sclerosis
Age matched normals; Age matched normals

Outcome Measures

Primary Outcome Measures :

1. Fundus: venous engorgement/beading [ Time Frame: Baseline ]
   Abnormal vessel appearance in fundi may include venous engorgement and beading, abnormal A/V ratio, blurred disc margins, papilledema, dot hemorrhages or exudates.

Eligibility Criteria

• Ages Eligible for Study: Child, Adult, Older Adult
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: Yes
• Sampling Method: Non-Probability Sample

Study Population

Aged-matched normals are patients at Total Eye Care. Multiple sclerosis and/or Ehlers-Danlos patients will be accepted from any area, and will not be excluded based on location of residence. They need not be patients of Total Eye Care.

Criteria

Inclusion Criteria:

• age matched normals
• patients with diagnosed or suspected Ehlers-Danlos Syndrome and/or diagnosed or suspected Multiple Sclerosis ("CIS")

Exclusion Criteria:

• diabetics and patients unable to sit in position for testing are excluded

Contacts and Locations

Locations

United States, Texas

Total Eye Care

Colleyville, Texas, United States, 76034

Sponsors and Collaborators

Genetic Disease Investigators

Optos, PLC

Investigators

• Study Director: Diana L Driscoll, O.D.; Genetic Disease Investigators
• Principal Investigator: Richard A Driscoll, O.D.; Genetic Disease Investigators
• Study Chair: Clair A Francomano, M.D.; Harvey Institute for Human Genetics

More Information

Additional Information:

Clinical trials by Prettyill 

Publications:

Vilisaar J, Harikrishnan S, Suri M, Constantinescu CS. Ehlers-Danlos syndrome and multiple sclerosis: a possible association. Mult Scler. 2008 May;14(4):567-70. doi: 10.1177/1352458507083187. Epub 2008 Jan 21.

Singh AV, Zamboni P. Anomalous venous blood flow and iron deposition in multiple sclerosis. J Cereb Blood Flow Metab. 2009 Dec;29(12):1867-78. doi: 10.1038/jcbfm.2009.180. Epub 2009 Sep 2.

Zamboni P, Galeotti R, Menegatti E, Malagoni AM, Tacconi G, Dall'Ara S, Bartolomei I, Salvi F. Chronic cerebrospinal venous insufficiency in patients with multiple sclerosis. J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):392-9. doi: 10.1136/jnnp.2008.157164. Epub 2008 Dec 5.

• Responsible Party: Diana Driscoll, O.D., Principal Investigator, Genetic Disease Investigators
• ClinicalTrials.gov Identifier: NCT01356134
• Other Study ID Numbers: 61/3527
• First Posted: May 19, 2011
• Last Update Posted: April 3, 2015
• Last Verified: April 2015

Keywords provided by Diana Driscoll, O.D., Genetic Disease Investigators:

multiple sclerosis; ehlers danlos syndrome; CCSVI; chronic cerebrospinal venous insufficiency; fundus; retina

Additional relevant MeSH terms:

Multiple Sclerosis; Venous Insufficiency; Ehlers-Danlos Syndrome; Sclerosis; Pathologic Processes; Demyelinating Autoimmune Diseases, CNS; Autoimmune Diseases of the Nervous System; Nervous System Diseases; Demyelinating Diseases; Autoimmune Diseases; Immune System Diseases; Vascular Diseases; Cardiovascular Diseases; Hemostatic Disorders; Hemorrhagic Disorders; Hematologic Diseases; Skin Abnormalities; Congenital Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Collagen Diseases; Connective Tissue Diseases; Skin Diseases