July 21, 2014

Participation

Neurologic Diseases Registry
Our Neurologic Diseases Registry is a collection of materials and information related to degenerative neurological conditions such as ALS, PLS, HSP, dementias, Parkinson’s disease, ataxia, and muscular dystrophies. It includes blood, DNA, cerebrospinal 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, as it is the “bank” from which we withdraw materials for all our studies. Our 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 and perhaps 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, 1,600 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.

Our Bank contains the blood samples, DNA, lymphoblast cell lines, skin samples and fibroblasts, induced pluripotent stem cells (IPSCs), and brain and spinal cord tissue that is essential for our research. Blood samples from participating patients, their family members, and neurologically normal controls are used for DNA extraction and white cell transformation into cell lines, which provide ongoing sources of DNA. Red cells and plasma are also stored. We have more than 7,000 lymphoblast cell lines and 10,000 DNA samples. These collections have been used successfully to map genes associated with familial ALS, recessive juvenile ALS, PLS, and other neurodegenerative diseases. We are very excited about our newest collection: patient skin samples which are used to make pluripotent stem cells which can be used to generate neurons. Our brain tissue and spinal cord tissue from patients with all types of ALS, as well as related disorders, are preserved for research into pathological and genetic investigations.

For blood sample donation please contact:

Nailah Siddique, RN, MSN
312-503-2712
nsiddique@northwestern.edu

 

 

 

 

 

How does the registry work?
The first step is identification of families which have members affected with these neurodegenerative conditions. This can happen in a variety of ways: patients or family members may contact us directly, they may hear about the registry 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 interview, a face-to-face interview, or with a family history form. The form may take several hours to complete, particularly if a family is large, and we will pay for the postage required for you to return the form to us. We use the form’s information to construct a detailed family tree indicating the pattern of inheritance for the family’s condition.

During this process, we also identify individuals 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 both affected and unaffected family members. Who we request samples from varies from family to family depending on 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 to donate as well. Blood samples provide the genetic material – DNA – for study, and 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 may 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, a doctor’s office, or a lab closer to the donor. We can 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 one to two hours to complete, and the Registry will cover the cost of 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 twenty 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 about their family’s health status and ask any questions they may have regarding our research. We may also contact subjects directly by phone, email, or post. The frequency and time required for these contacts varies according the family situation. Generally, they occur about once a year, with each 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. Any 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 FedEx.

Who should I talk to if I’m interested?

Nailah Siddique, RN, MSN
312-503-2712
nsiddique@northwestern.edu