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Connective Tissue Disorders Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue

This study is currently recruiting.

Dear Hereditary Disorders of Connective Tissue Study applicants:

You have several options in terms of participation:

You may choose to not come to the study location, but participate via sending a blood sample and your medical history information to the study. You would provide consent over the phone. This option would require that your primary care doctor or another physician who provides care for you is willing to cooperate in terms of having the blood drawn and sent to us. This would not incur any costs to your doctor as we are able to provide a FedEx account number for shipping the samples. You may choose to participate in the "Mutational analysis" arm of the study if you are willing to travel to the study location in Baltimore, but unable or unwilling to commit to the "longitudinal" study described in option three. You will have a detailed history and physical examination in the unit, and your medical records will be reviewed. You will have a blood draw for research DNA analysis, orthostatic blood pressure measurements and a skin biopsy (with separate consent). Also, there are some questionnaires to complete and clinical photographs will be obtained (with separate consent). This is a one-time visit that will be completed in a single day. The "longitudinal arm" of the study involves a two day stay at the NIA-ASTRA unit in Baltimore, and you will be asked to return for two additional visits in one to five year intervals. The study involves: questionnaires, history and physical exam, a "pulse wave velocity" study that measures how fast your blood travels from your neck to your groin using an ultrasound, MRA of your brain, and MRI's of your chest/abdomen and spine, echocardiogram, 24 hour Holter monitor reading, skin biopsy (with separate consent) and bone densitometry scan. The types of MRI /MRA scans are based on your diagnosis. Also, depending on your diagnosis, you may have an eye exam. You will have clinical and research blood tests, including DNA analysis, and clinical photographs (with separate consent).

We are not able to reimburse you for travel costs, however, we can help you try to obtain medical flights through Angel Flights or commercial airlines by sending them letters. There are no costs to you for any of the tests that are a part of the study, such as the MRI scans, echocardiograms, or doctor's exams at the NIA-ASTRA unit. Some participants who have known or suspected eye complications as a part of their disorder will have eye exams at a non-NIA facility. If you participate in the eye exam, you will be asked to provide private health insurance information at the doctor's office. NIA will be responsible for any portion of the cost that is not covered by your private health insurance. If you do not have private health insurance, NIA will be responsible for reimbursing the eye exam.

Your meals will be provided to you at no cost. We do our best to try and accommodate you on the unit if we have enough beds; however, if we do not have space on the unit we will ask you to use a hotel. We will let you know as soon as possible if there are not enough beds on the unit to accommodate you for your scheduled date. You will be offered the opportunity to cancel and reschedule at a later time if we do not have enough beds to accommodate you. If we do ask you to use the hotel, which happens rarely, you can receive our discounted rate of $79.00 per night. Persons with serious problems such as known fibromuscular dysplasia, aneurysms, dissections, or compromise of their mobility will stay in the NIA-ASTRA unit and will not be sent to the hotel. The link to the hotel we use is http://www.microtelbwi.com.

We would like to inform you our research unit is not set up to do acute care. If you have a serious medical event while you are in the unit for the study, we would transfer you to a location where you can receive appropriate care, and your insurance will be billed by that facility.

If you wish to participate after you review the enclosed materials, please complete the attached medical questionnaire (preferably on the computer) and send it to the principal investigator:

Dr. Nazli McDonnell NIA-ASTRA unit, 5th Floor 3001 S. Hanover Street Baltimore MD 21225 Fax: 410-350-7308

Please make sure to include the following information: Full name, address, home/work/cell phone numbers, emergency contact information, date of birth, presence of metal body parts, height and weight, current medications, allergies (food, medication or contact). Please indicate if you would like to participate in the study by coming to the unit, and if so, please indicate "longitudinal arm" versus the "mutational analysis" arm. If you are unable to come, but have a physician who is cooperative about sending a blood sample and you are able to send your records, please also indicate that on your reply. Once we receive your response and your questionnaire, we will get in touch with you about scheduling. At this time, only persons over 12 years of age can participate in the longitudinal arm of the study. Ages 2 and over can participate in the mutational analysis arm.

Please be advised that there is an extensive waiting list for the longitudinal arm of the study, however, every effort will be made to schedule you as soon as possible for a study visit if you are eligible.

The consent form is for information purposes only, and there is no need to sign and return it. Consent will be obtained at the time of your participation.

The location of the study is 5th floor, Harbor Hospital, NIA-ASTRA unit, 3001 South Hanover Street, Baltimore MD 21225. For directions, please see http://www.harborhospital.org/body.cfm?id=43.

The nearest airport is Baltimore Washington International Airport (BWI) which is 15 minutes away. There is free parking at the Hospital. New participants have to arrive before 5:00 p.m. the day before they are scheduled, or the morning of the testing by 10:00 a.m. to be able to accommodate the busy testing schedule.

If you have questions, you can email Dr. McDonnell at mcdonnellna@mail.nih.gov with CONNECTIVE TISSUE STUDY in the title line.

Thank you again for your interest in the study and we look forward to hearing from you.

Click Here to Download the Questionnaire

If you are interested in participating in the study, please send the completed questionnaire to:

Dr. Nazli McDonnell NIA-ASTRA Unit, 5th Floor 3001 S. Hanover Street Baltimore MD 21225 mcdonnellna@mail.nih.gov

To review the informed consent forms, please click the links below.

Informed Consent for Clinical Research -- Informed Consent for Skin Biopsy

For More Information

PLEASE CALL: 410-350-7391

Email: sloperlj@mail.nih.gov

Principal Investigator: Nazli McDonnell, M.D., Ph.D. NIA Study #: 2003-086

NIA - ASTRA Unit Advanced Studies in Translational Research on Aging

Harbor Hospital 3001 Hanover Street Baltimore, MD 21225

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Updated: Thursday October 11, 2007