Senior Citizens Suffering Undiagnosed Disease May
Find Help From New NIH Program
National Institutes of Health clinic will focus on
most puzzling medical cases
May
21, 2008 – Senior citizens who live with the frustration of a mysterious
condition that no one seems to diagnosis or, therefore, treat my find
hope with a new clinical research program announced this week by the
National Institutes of Health (NIH). It is named the “Undiagnosed
Diseases Program,” and will focus on the most puzzling medical cases
referred to the NIH Clinical Center.
Physicians across the nation may contribute cases
to the center in Bethesda, Md. The cases can relate to patients of any
age.
"A small number of patients suffer from symptoms
that do not correspond to known conditions, making their care and
treatment extraordinarily difficult. However, the history of biomedical
research has taught us that careful study of baffling cases can provide
new insights into the mechanisms of disease — both rare and common,"
said NIH Director Elias A. Zerhouni, M.D., who has made a point during
his six-year tenure at NIH of encouraging trans-NIH initiatives.
"The goal of NIH’s Undiagnosed Diseases Program is
two-pronged: to improve disease management for individual patients and
to advance medical knowledge in general."
The new program, which got under way over the past
month, is the culmination of efforts by William A. Gahl, M.D., Ph.D.,
clinical director at the National Human Genome Research Institute (NHGRI),
part of the NIH; John I. Gallin, M.D., director of the NIH Clinical
Center; and Stephen Groft, Pharm.D., director of the NIH Office of Rare
Diseases (ORD). With the program infrastructure now in place, the
program is ready to accept patients, the first of which is expected to
be seen in July 2008.
More Help & Information
Genetic Alliance
Genetic Alliance is a coalition of more
than 600 advocacy organizations serving 25 million people
affected by 1000 conditions. The organization works to transform
leadership in the genetics community to build capacity in
advocacy organizations and to educate policymakers by leveraging
the voices of individuals and families. Genetic Alliance
increases the capacity of genetic advocacy organizations to
achieve their missions and leverages the voices of millions of
individuals and families living with genetic conditions.
Mission Statement
The National Organization for Rare Disorders (NORD), is a unique
federation of voluntary health organizations dedicated to
helping people with rare "orphan" diseases and assisting the
organizations that serve them. NORD is committed to the
identification, treatment, and cure of rare disorders through
programs of education, advocacy, research, and service.
What is A Rare Disorder?
A rare or "orphan" disease affects fewer than 200,000 people in
the United States. There are more than 6,000 rare disorders
that, taken together, affect approximately 25 million Americans.
For almost twenty years, NORD has served as the primary
non-governmental clearinghouse for information on rare
disorders. NORD also provides referrals support groups and other
sources of assistance.
"The NIH Clinical Center, the nation’s clinical
research hospital, provides an extraordinary environment for excellence
in both patient care and collaborative clinical investigation," said Dr.
Gallin. "This new program will capitalize on a rich set of skills
already at the Clinical Center to "help patients with unusual medical
conditions. These patients often partner with us in clinical research to
identify new diseases or new treatment."
To evaluate each patient enrolled in the new
program, NIH will enlist the expertise of more than 25 of its senior
attending physicians, whose specialties include endocrinology,
immunology, oncology, dermatology, dentistry, cardiology and genetics.
Dr. Gahl, who is an expert on rare genetic diseases, will serve as
director of the new program.
"We have developed a stringent referral process to
ensure this program deals with those cases that have truly confounded
medical experts," Dr. Gahl said. "We will be very selective when it
comes to patient eligibility. Our focus is strictly on conditions that
have not been diagnosed."
To be considered for this NIH pilot program, a
patient must be referred by a physician and provide all medical records
and diagnostic test results requested by NIH. Patients who meet the
program’s criteria — as many as 100 each year — will then be asked to
undergo additional evaluation during a visit to the NIH Clinical Center
that may take up to a week.
Two nurse practitioners will manage patient
recruitment and logistics for the new program, which will utilize
existing facilities and staff already at the NIH Clinical Center, NHGRI
and ORD. Funding for the program includes $280,000 per year from the
ORD.
In organizing the Undiagnosed Diseases Program, NIH
has reached out to patient advocacy groups that often serve as a source
of information and support for people struggling with mysterious
ailments."We hope to build upon our strong working relationships with
many patient advocacy groups.
These organizations provide a crucial link in our
nation’s efforts to improve human health through biomedical research,"
said Dr. Groft." We hope that this new partnership of NIH researchers,
advocacy groups and patients will give hope for many Americans who now
face troubling medical symptoms with no clear diagnosis."
For more information about the Undiagnosed Diseases
Program, go to:
http://rarediseases.info.nih.gov/Undiagnosed. Physicians and
patients with specific inquiries may call the NIH Clinical Center
clinical information research line, at 1-866-444-8806.
The NIH Clinical Center (CC) is the clinical
research hospital for the National Institutes of Health. Through
clinical research, physician-investigators translate laboratory
discoveries into better treatments, therapies and interventions to
improve the nation's health. For more information, visit
http://clinicalcenter.nih.gov.
The NIH Office of Rare Diseases stimulates and
coordinates research on rare diseases and supports research to respond
to the needs of patients, health care providers and the research
communities involved in the care, treatment, and evaluation of products
for the prevention, diagnosis, or treatment of these conditions. For
more information about ORD and its programs, visit
rarediseases.info.nih.gov.
The Office of the Director, the central office at
NIH, is responsible for setting policy for NIH, which includes 27
Institutes and Centers. This involves planning, managing, and
coordinating the programs and activities of all NIH components. The
Office of the Director also includes program offices which are
responsible for stimulating specific areas of research throughout NIH.
Additional information is available at
http://www.nih.gov/icd/od/index.htm.
NHGRI is one of the 27 institutes and centers at
the NIH, an agency of the Department of Health and Human Services. The
NHGRI Division of Intramural Research develops and implements technology
to understand, diagnose and treat genomic and genetic diseases.
Additional information about NHGRI can be found at its Web site,
www.genome.gov.
The National Institutes of Health (NIH) — The
Nation's Medical Research Agency — includes 27 Institutes and Centers
and is a component of the U.S. Department of Health and Human Services.
It is the primary federal agency for conducting and supporting basic,
clinical and translational medical research, and it investigates the
causes, treatments, and cures for both common and rare diseases. For
more information about NIH and its programs, visit
www.nih.gov.
The
Undiagnosed Diseases Program at the National Institutes of Health
Frequently Asked
Questions
·
What is the program’s purpose?
This trans-NIH
program has two main goals:
oTo
provide answers to patients with mysterious conditions that have long
eluded diagnosis and
oTo
advance medical knowledge about rare and common diseases.
·How
will the program define an “undiagnosed disease?”
Any medical
condition that eludes diagnosis by a referring physician can be
considered undiagnosed and may be of interest to this pilot study. Some
patients wait years for a definitive diagnosis. For this study, only a
fraction of cases referred will be invited to proceed in the study at
the discretion of the program’s medical team.
·
What is a rare disease?
A rare disease is
generally considered to have a prevalence of fewer than 200,000 affected
individuals in the United States.
·How
will the program work?
If you are
interested in participating in this clinical research program, discuss
the option with your primary physician or health-care provider (nurse
practitioner or physician’s assistant).
Information
specialists at the Clinical Center’s Patient Recruitment Call Center
(1-866-444-8806) can provide more information about eligibility and what
kinds of medical information referring physicians must submit for review
by the program’s medical team. You or your health-care provider can
call.
Patients must be
referred by a physician or health-care provider. Information your
physician must provide directly to NIH includes:
oA
summary letter describing your condition, when it was first noted and
your current health status
oA list
of treatments and medications that have already been tried and their
effects
oCopies
of reports and results of pertinent diagnostic tests, along with X-rays,
MRI results, and other imaging records/studies. Copies of the actual
imaging studies are preferred.
Ask for and keep a
copy of these materials for yourself. Because of patient confidentiality
considerations, no email submissions will be accepted. Your referring
physician must mail the summary letter and related materials to:
National Human Genome Research Institute, National Institutes of Health,
Undiagnosed Diseases Program, 10 Center Drive - MSC 1851, Building 10,
Room 10C103, Bethesda, Maryland 20892-1851
Undiagnosed Diseases
Program staff will notify you by mail when the information from your
physician has been received.
The program’s
medical team will review the information submitted for each case. Cases
meeting the criteria will be presented to the Undiagnosed Diseases
Program’s board of specialists for further consideration. Plans call for
inviting 50 to 100 patient participants to the NIH annually for a
thorough evaluation and consultation.
If your case is
accepted for NIH evaluation, NIH will provide information from the
evaluation to you and to your health-care provider, who will be
responsible for your medical care after you leave the NIH. In this
manner, follow-up care will be assured.
·
Will all cases submitted be reviewed by the Undiagnosed Disease Program?
Yes, the program’s
medical team will review the cases submitted for consideration. Cases
meeting Program criteria will be presented to the board of specialists.
Fifty to 100 cases will be invited to NIH for thorough evaluation and
consultation each year.
·
What’s involved for patients accepted by NIH for participation?
Patients in the
program will be evaluated using the unique combination of scientific and
medical expertise and resources at the NIH Clinical Center in Bethesda,
Maryland. Dozens of NIH’s senior attending physicians will consult on
the cases and evaluations. Their specialties include rheumatology,
immunology, oncology, mental health, nephrology, hematology,
ophthalmology, neurology, laboratory medicine, pain and palliative care,
bone disorders, endocrinology, oncology, immunology, dermatology,
primary immunodeficiency, dentistry, genetics, pathology, pulmonology,
cardiology, primary immunodeficiency, internal medicine, pediatrics and
hepatology.
The referring
provider and patient will receive the information resulting from NIH’s
evaluation as a part of this program. Long term care will not be
provided by the NIH, but selected patients may be eligible for an
ongoing research study.
·
Will all evaluations result in a diagnosis?
No, but the
evaluations will yield valuable information medical researchers will use
to:
o
Suggest new ways to treat and prevent common illnesses, and
o
Determine promising options for continued medical research
·How
can I find out more about participating?
Call 1-866-444-8806.
Information
specialists with the Clinical Center Patient Recruitment Call Center
will ask you a few questions to begin to determine your eligibility to
participate. A physician’s referral is required.
·Who
is eligible?
Generally,
physicians may refer individuals who:
oAre at
least six months old.
oHave a
disease or condition that remains undiagnosed despite ongoing care and
follow up by a physician or other health-care provider.
oAre
able to travel.
·
Will participants also have DNA taken and studied as part of this
program?
Yes, the hope is
that DNA will be one way that helps the NIH medical team determine a
patient’s illness. Patients will be informed of how the DNA will be
used.
·
What is the cost for participating if accepted?
There is no charge
for participating in this research program at the Clinical Center.
Travel, meals and lodging expenses will be covered for research
participants according to NIH policies.
·I
don’t have a physician and I don’t have health insurance. What are my
options for participating in this research program?
A referral from a
primary health-care provider is required. If you don’t have a personal
physician, but receive care in a clinic or other health-care setting,
discuss referral with a member of the medical team currently providing
your care. This could be a nurse practitioner or physician’s assistant.
·Why
is a physician’s referral required?
Consultation with
the patient’s primary health-care provider will be important throughout
the process. Follow-up care will be addressed as part of the evaluation
at NIH. If your case is accepted for NIH evaluation, NIH will provide
information from the evaluation to you and to your health-care provider,
who will be responsible for your follow-up medical care.
·Why
isn’t NIH providing the follow-up care?
Long-term follow up
care at the NIH is not part of this program. The NIH Clinical Center is
a research hospital and its mission is to perform clinical research to
advance the overall health of the nation.
·How
will I find out NIH’s decision on accepting my case for evaluation as
part of this research program?
The decision will be
communicated in writing to you and to the primary health-care provider
who sent your summary letter and other medical records. This will be
communicated in a timely fashion.
·If
my case is accepted for evaluation at NIH, what happens next?
You may be asked to
provide copies of additional medical records and to travel to the NIH
Clinical Center in Bethesda, Maryland, for comprehensive medical
evaluations. This will be a 2-5 day visit for inpatient and/or
outpatient care. Travel, meals and lodging expenses will be covered for
research participants according to NIH policies.
Keep up with the latest news for senior citizens, baby
boomers
May
21, 2008 – Senior citizens who live with the frustration of a mysterious
condition that no one seems to diagnosis or, therefore, treat my find
hope with a new clinical research program announced this week by the
National Institutes of Health (NIH). It is named the “Undiagnosed
Diseases Program,” and will focus on the most puzzling medical cases
referred to the NIH Clinical Center.