2005 2018 CADASIL REGISTRY DATA 2005 2008 CADASIL Together We - - PowerPoint PPT Presentation

2005 – 2008 CADASIL Together We Have Hope Non-Profit www.cadasilfoundation.org 1

2005 – 2018 CADASIL REGISTRY DATA

2 2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org

CADASIL Together We Have Hope was established in the year 2005 and devoted to promoting advocacy, awareness, education, research and support. We are dedicated to enhancing the established communication network among families as well as identifying sources of medical care and social services. We foster advocacy and open communication among all stakeholders as we work collaborative to find a treatment or cure for CADASIL. Vision It is our vision that an environment where affordable diagnosis and up-to-date care is readily available with cost effective treatment for everyone. Values Families, Advocacy, Medical Technology, Innovations, Loyalty, Integrity, Ethical Practices, and Service to Society, which spells out FAMILIES. To improve the lives of all we work collaboratively with various organizations, physicians, researchers, and groups to ensure the channels of communication are kept open among all to find a treatment or cure for all. We work closely with a myriad of worldwide researchers push and announce current studies of interest to

• ur CADASIL community.

Advocacy

CADASIL Together We Have Hope Non-Profit Organization

CADASIL TOGETHER WE HAVE HOPE HAS OR IS ASSISTING IN THE FOLLOWING STUDIES: If you wish to recruit patients to participate in a CADASIL Study we work directly with the patient and post the study information on the website. Should any CADASIL patients desire more information or want to participate in a study, they will contact researchers directly.

• Brian tissue donations: Butler General Hospital (Dr. Stephen Salloway) & Michigan University (Dr. Michael Wang)

CONTINUING STUDIES

3 2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org

• German Study 2014 - The study focuses on the identification of relevant mechanisms of the disease in order to

develop new therapeutic strategies. (Dr. med. Marco Düring)

• Disability Project 2013 - Orphanet, the European portal and worldwide reference database for rare diseases and
• rphan drugs needed a clear description of disabilities related to CADASIL.
• 2012 - Canadian study by the Heart and Stroke Foundation Centre of Ontario entitled “Evaluating Compromised

White Matter Cerebrovascular Reactivity in Individuals with CADASIL.” (Heart and Stroke Foundation Centre of Ontario, Canada)

• New York University 2011 - “Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis.” ( Dr. Swati A Sathe)
• University of Rome 2011 - Crossover trial designed to compare one fixed dose of Dabigatran with open-label use of

ASA in patients affected by CADASIL.

• British Columbia, Canada 2010 - Online CADASIL Survey/Study “How Diet Effects CADASIL.” (Dr. Viera Saly)
• University of Nevada 2008 - Effects of dental problems with CADASIL patients (Tiffany Simmons DMD)
• CADASIL Study – January – July 2006 - A randomized trial of Donepezil (Aricept, Eisai/Pfizer)

This locator lists physicians from all around the world who have seen one or more patients with CADASIL. CTWHH continually adds to this list. If you are a patient and are pleased with the doctor who you have seen or are currently seeing for CADASIL, please share their contact information (name, address and telephone number) with us. If you are a doctor and would like to be on this locator, please contact us at info@cadasilfoundation.org. WORLDWIDE PHYSICIAN LOCATOR

Disclaimer: CADASIL Together We Have Hope has made every effort to keep this list current. It is very important for patients and doctors alike to understand that every case of CADASIL is different and patients need to develop a good relationship with their doctors. The patient should have access to appropriate testing facilities, genetic counseling, and prevention medicines for symptoms.

The following countries are represented on the locator:

4 2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org

Austria Denmark Holland Saudi Arabia Switzerland Bahrain Finland Hungary Scotland Turkey Belgium Ecuador India Jamaica Vietnam Brazil England Italy Korea Wales Chile Greenland Slovakia Mexico Norway Canada Ireland Lebanon Netherlands Porta Rico Columbia Italy New Zealand Lithuania Philippines Costa Rica Japan Norway South Africa Qatar Cypress Lebanon Portugal Spain

• St. Croix

Dominican Republic Greece Puerto Rico Sweden West Indies

Name Please check any symptoms you have or had: E-mail No Symptoms Address Balance/Gait Dementia Depression City Fatigue State/Province Headache Postal Code Memory Country Migraines What test was taken to confirm CADASIL? Migraines with Aura Your Mutation Seizures Strokes Year Diagnosed Age of diagnosis Swallowing Seizures Ethnicity/Race TIA’s Gender Other Symptoms Blood Type Were you first diagnosed with M.S.? Other Medical problems If your doctor knows about CADASIL, please provide doctor's contact information to help others. How did you hear about the website?

CADASIL TOGETHER WE HAVE HOPE REGISTRY (DATA) EXAMPLE OF REGISTRY WEB PAGE The registry is a database (collection of information) to which people with this rare condition can contribute their information. All personal information provided to us is kept strictly confidential!

5 2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org

OVERVIEW OF CADASIL PATIENTS SIGNING REGISTRY 1799 REPORTED WORLDWIDE

6 2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org

200 702 796 1110 1272 1703 1730 1799 2005 2007 2009 2011 2013 2015 2017 2018

CADASIL PATIENTS GENDER 6% 41% 53%

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Unreported Males Females 4%

39%

57%

CADASIL PATIENTS ETHNICITY/RACE

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1% 1% 2% 3% 6% 10% 77% Filipinos Hawaiian Indian Black Hispanic Other Caucasian

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CADASIL PATIENTS LOCATION BY CONTINENT 72% 16% 7% 3% 1% 1% 0%

CADASIL PATIENTS TESTING REPORT

10 2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org

81% 19% Genetic (blood) Skin Biopsy

CADASIL PATIENTS AVERAGE AGE OF DIAGNOSIS

11 2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org

0% 1% 6% 16% 29% 27% 10% 2% 9%

12% OF CADASIL PATIENTS WERE MISDIAGNOSED WITH MULTIPLE SCLEROSIS BETWEEN JULY 2010 – DECEMBER 2018

12 2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org

61% 38% 1% Males Females Unreported Asia 1% South America 1% Australia 2% Europe 21% North America 75% 0% 20% 40% 60% 80% 100% Caucasian Hispanic Asian Black Other 85% 7% 3% 4% 1%

CADASIL PATIENTS BLOOD TYPE SEPTEMBER 2010 TO DECEMBER 2018 18% PATIENTS REPORTED THEIR BLOOD TYPE

13 2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org

0% 5% 10% 15% 20% 25% 30% 35% 40%

O+ A+ O-. A- B+ B- AB+ AB- 38% 30% 14% 9% 5% 2% 2% 2%

2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org 14

REPORTED CADASIL SYMPTOMS 35% 34% 31% 30% 30% 24% 22% 22% 19% 10% 9% 9% 7% Migraines Tia's Strokes Headaches Memory Depression Balance/Gait Migraines with Aura Fatigue Dementia Asymptomatic Swallowing Seizures

2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org 15

TOP FIVE CADASIL SYMPTOMS Migraines TIA's Strokes Headaches Memory 35% 34% 31% 30% 30%

2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org 16

MIGRAINE SYMPTOMS 35% CADASIL PATIENTS REPORTED AGE DIAGNOSED 61% 38% 1% Unreported Females Males 1% 1% 1% 4% 7% 9% 77% Asia 1% Australia 7% Europe 15% North America 76% South America 1% 20 - 29 years 7% 30 - 39 years 18% 40 - 49 years 32% 50 - 59 years 30% 60 - 69 years 10% 70 plus years 3%

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TIA’s SYMPTOMS 34% CADASIL PATIENTS REPORTED AGE DIAGNOSED 63% 37% Males Females 4% 8% 9% 79% Other Hispanic Black Caucasian 20 - 29 years 7% 30 - 39 years 20% 40 - 49 years 32% 50 - 59 years 28% 60 - 69 years 11% 70 plus years 2% Australia

7%

Europe

22%

North America

69%

South Africa

1%

South America

1%

2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org 18

STROKE SYMPTOMS 31% CADASIL PATIENTS REPORTED

AGE DIAGNOSED

62% 38% Females Males 1% 4% 4% 6% 7% 78% Asia

1%

Australia

7%

Europe

15%

North America

74%

South America

3%

20 - 29 years 6% 30 - 39 years 17% 40 - 49 years 32% 50 - 59 years 31% 60 - 69 years 10% 70 plus years 4%

2005-2018 CADASIL Together We Have Hope Non-Profit - www.cadasilfoundation.org 19

HEADACHES SYMPTOMS 30% CADASIL PATIENTS REPORTED

AGE DIAGNOSED

under 10 1% 11 - 19 years 1% 20 - 29 years 8% 30 - 39 years 16% 40 - 49 years 32% 50 - 59 years 26% 60 - 69 years 14% 70 - 79 years 3% Australia

7%

Caribbean

0%

Europe

19%

North America

69%

South America

5%

62% 37% 1% 1% 2% 2% 4% 9% 82% Males Females Unreported

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MEMORY SYMPTOMS 30% CADASIL PATIENTS REPORTED

AGE DIAGNOSED

61% 38% 1% 1% 1% 1% 4% 7% 9% 77% Asia

1%

Australia

7%

Europe

15%

North America

76%

South America

1%

20 - 29 years 7% 30 - 39 years 18% 40 - 49 years 32% 50 - 59 years 30% 60 - 69 years 10% 70 plus years 3% Females Males Unreported

WHAT’S ON OUR WEBSITE www.cadasilfoundation.org

21 2005-2018 CADASIL Together We Have Hope - www.cadasilfoundation.org E-News Registry Doctors Locator For Medical Professional USA Australia/New Zealand What is CADASIL Canada CADASIL is .. United Kingdom Questions/Answers Other Countries Medicines to Avoid Understanding CADASIL CADASIL Awareness Should I get Tested? Donate Tests and Locations Wristbands History of CADASIL Ways to Help Misdiagnosis News Articles CARASIL 2010 Conference 2012 Symposium Coping with CADASIL Family Experiences CADASIL Studies Family Forum 2014 German Study Caregiver Forum 2013 Disability Caregivers Guide 2012 Canadian Filing Social Security 2011 NYU Genetic Non-Discrimination Act 2010 Diet Disability Information Acts 2008 Dental Vocational Agency 2006 Aricept Educational Materials Brochure Emergency Plan Definitions Videos Your Genes Understanding Strokes

CADASIL Together We Have Hope Non-Profit Organization 3605 Monument Drive Round Rock, Texas 78681 www.cadasilfoundation.org Phones: 512-608-1611 Toll Free 1-877-519-HOPE e-mail: info@cadasilfoundation.org

Data complied by: Billie Duncan-Smith, CADASIL Together We Have Hope Non-Profit Director February 2019