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The Surgeon General's Family History Initiative
"The Surgeon General has launched an initiative to encourage all American families to learn more
about their family health histories...
With a copy of your family health history, you and a health care professional can individualize
your care to prevent and screen for conditions for which you may be at higher risk."
-- US Surgeon General's Family Health Initiative -- My Family Health Portrait
Health care professionals have known for a long time that common diseases - heart disease, cancer,
and diabetes - and even rare diseases - like hemophilia, cystic fibrosis, and sickle cell anemia -
can run in families. If one generation of a family has high blood pressure, it is not unusual for
the next generation to have similarly high blood pressure. Tracing the illnesses suffered by your
parents, grandparents, and other blood relatives can help your doctor predict the disorders to which
you may be at risk and take action to keep you and your family healthy.
To help focus attention on the importance of family health history, U.S. Surgeon General Richard H.
Carmona, M.D., M.P.H., in cooperation with other agencies within the U.S. Department of Health and
Human Services (HHS) has launched a national public health campaign, called the U.S. Surgeon
General's Family History Initiative, to encourage all American families to learn more about their
family health history.
In addition to the Office of the Surgeon General, other HHS agencies involved in this project include
the National Human Genome Research Institute (NHGRI) at the National Institutes of Health, the
Centers for Disease Control and Prevention (CDC), the Agency for Healthcare Research and Quality
(AHRQ), and the Health Resources and Services Administration (HRSA).
Massachusetts General Hospital
Contact
- Ezekiel Fink, M.D. (617) 724-3260
- David Chen, M.D. (617) 724-8602
Duke University Cardiac Study
- Evaluation of Left Ventricular Mass Response to Enzyme Replacement Therapy in patients with Fabry Disease
Principal Investigator
- Manesh R. Patel, MD
Duke University Medical Center
Study Aim
- The objective of this open-label, single arm, single center study is to evaluate the effect of Fabrazyme 1 mg/kg every other week on cardiac mass in ERT-naïve (i.e. untreated) patients with Fabry disease. The primary study hypothesis is that Fabrazyme will result in at least a 10% reduction in left ventricular mass (LVM) in patients with Fabry Disease as measured by contrast-enhanced cardiac MRI. A secondary hypothesis is that the presence of myocardial fibrosis will be inversely related to a reduction in LVM with enzyme replacement therapy.
Patients who meet the enrollment criteria (see below) will undergo clinical evaluation, ECG, and a baseline cardiac MRI. Patients will then return to local sites for routine care and ERT. After one year of therapy, patients with evidence of increased LV mass on initial scan will be asked to return for a follow up MRI. All cardiac images will be obtained at Duke University, and at the end of the study, all MRIs will be blindly assessed for LV EF, LV mass, LV wall motion, and LV contrast-enhancement. Patients will also be asked to fill out a standard quality of life questionnaire (SF-36) and a New York Heart Association (NYHA) class determination at baseline and at the end of 12 months of treatment.
This study will enroll 30 male and female patients between 18-60 years of age and who are naive to ERT. Patients with severe cardiac disease will not be eligible for enrollment (exclusion criteria has been established by Duke University that limits both severe & concomitant cardiac disease)
Patient travel costs will be paid for, and directed through, Duke University. Consequently, any patient in the US meeting the entrance criteria could participate in this study (at the discretion of the study investigator).
Contact
- Susan Adams-Judd
Clinical Trials Manager
Duke Cardiovascular MR Center
Duke University Medical center
Tel. (919) 668-3518
Fax (919) 668-3554
susan.adamsjudd@dcmrc.duhs.duke.edu
Mt Sinai G.I. Study
Principal Investigator
- Maryam Banikazemi, MD
Mt. Sinai New York
Inclusion Criteria
- Patients
- Having provided written informed consent
- Fabry male (aGAL assay and/or genotyped)
- Age >16 years
- Naïve to enzyme replacement therapy
- With gastrointestinal symptoms at least 7 days in a month: either
- Frequent nausea/vomiting or
- Frequent diarrhea= interference with daily activities
- Post-prandial abdominal cramping
Exclusion Criteria:
- Patients
- Having a concomitant gastrointestinal disease that may interfere with the evaluation parameters
- Having a clinically significant organic disease or an unstable condition (with the exception of symptoms relating to Fabry disease) that – in the opinion of the Investigator – would preclude participation in this trial.
- Having participated in a study employing an investigational drug within 30 days of the start of their participation in this trial
- Unable to comply with the requirements of the protocol
- Women will be excluded due to a high prevalence of IBS (irritable bowel syndrome) among women which may confound the clinical picture of Fabry GI symptoms.
Contact Information
- Maryam.Banikazemi.mssm.edu
Dana Doheny, MS CGC
886-322-7963
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