Our Neurologic Diseases Registry is a collection of different types of materials and information related to degenerative neurologic conditions, such as ALS, PLS, the HSPs, the dementias, Parkinson disease, the ataxias and the muscular dystrophies. It includes blood, DNA, ceribrospinal fluid, skin samples and brain and spinal cord tissue, as well as clinical, environmental and family histories. We maintain this information very carefully so that it can be studied repeatedly in the future. It is the “bank” from which we withdraw materials for all our studies. The intent is to use the materials to identify factors that cause or increase risk for developing diseases and figure out how these factors contribute to disease onset. The ultimate goal is to improve diagnosis and develop effective treatments, maybe even preventions, for these disorders.

 

The Registry currently contains one of the world’s largest collections of families with motor neuron disease: approximately 735 families with FALS, 130 families with FALS and FTD, 1600 families with SALS, 235 families with PLS, as well as families with HSP, juvenile onset ALS and PLS and related disorders. We have more than 16,000 blood samples permanently banked. This is an invaluable resource collected with care over the past 25 years.

How does the Registry work?

The first step is identification of families who have family members affected with these neurodegenerative conditions. This happens in a variety of ways: patients or family members may contact us directly, they may be known to us through our clinics, or they may be referred by their physicians or lay organizations.

 

Once we know about a family, we ask for information about the family’s history, including how people are related, their health problems and birth and death dates. We do this either via a telephone or face-to-face interview or with a family history form. The form may take several hours to complete, particularly if a family is large. We pay postage required for return of the form. We use the information to construct a detailed family tree indicating where in the family the condition appears.

 

A concurrent step is identification of people without neurologic disease whose contributions can be studied and compared with material from people affected by disease. Generally these people are self-referred friends or acquaintances of a person affected with neurologic disease who has contributed to the Registry.

 

The second step is to obtain blood samples from particular family members and unaffected persons. The samples requested vary from family to family according to which family members are, or have been, affected by the condition. Samples are always requested from family members affected with the condition, but brothers and sisters, parents, children and spouses may be asked as well. Blood samples provide the genetic material or DNA for study. Blood samples are used to develop a continuous source of DNA, called a cell line. This is important because it means the DNA will be available for study even if a patient passes away. DNA can be taken for study from the cell line as needed. We obtain a single sample of approximately one tablespoon (18 ml) of blood. Rarely, we ask for a second sample if the cell line does not grow, its DNA is exhausted or a new research technique requires different processing. Samples may be drawn at one of our clinics or locally. We send out kits with the necessary blood tubes and materials for returning the sample via Federal Express. Bills for drawing of blood samples are paid by the Registry, as are fees for shipping samples.

 

We also ask particular subjects about potential environmental influences on their condition using a written questionnaire, which provides information about the subject’s medical and social history. It generally takes 1-2 hours to complete. We pay postage needed for its return.

 

We may also ask about such things as quality of sleep, breathing function or ability to accomplish daily activities. These questionnaires generally require less than 20 minutes each to complete. Again, the Registry pays any necessary postage.

 

Subjects or family members are encouraged to contact registry personnel at any time to provide current information their family’s health status and ask any questions they may have regarding our research. We may also contact a subject directly by phone, e-mail or post. The frequency and time required for these contacts varies according the situation. Generally, they occur about once a year, with each contact requiring a few minutes.

 

Registry materials will be maintained indefinitely until the causes of these disorders are understood and effective treatments developed.

How is privacy protected?

We make every effort to protect participants from uses of Registry information that would adversely affect them. Specifically, clinical and research information obtained for the Registry is maintained in research files separate from Northwestern Memorial Hospital and Northwestern Medical Faculty Foundation records.

 

All information and samples are assigned family and individual number codes. We limit access to information that identifies Registry participants to a small number of our staff who have been trained to maintain patient and family confidentiality. Files with identifying information are kept in a locked room with limited access.

 

Coded, de-identified samples may be shared with collaborators from other institutions who are working with us. Research data that identifies a subject is not disclosed to a third party except with a subject’s written permission. Federal law requires that agencies funding research be allowed to audit research records.

Does it cost anything to participate?

Participants are not paid for being in the Registry, but we will cover charges for blood drawing, skin biopsies, tissue retrieval, mail and Fed Ex.