Research in Oalkand

Thalassemia Research and Care:
An Update
 
Dear patients, families, friends, and providers:

I. Thalassemia Clinical Research Network (TCRN)
 Overview
 Thalassemia Longitudinal Cohort (TLC) Study
 Decitabine Study
 Pulmonary Hypertension (PHT) Study
 Pain Prevalence Study
 
II. Studies That Have Been Completed
 Zinc and Bone Metabolism in Thalassemia: The “Think Zinc” Study
 Combination Chelation Study (Desferal and L1)
 Pulmonary Hypertension (PHT) in Thalassemia: Mechanisms and
Treatment
 Early Detection of Iron Cardiomyopathy in Thalassemia (EDICT)
 
III. Studies Currently Being Conducted
 Combination Chelation Study: Desferal and Exjade
 Juvenon Study
 Fertility Study
 Strengthening Bones in Thalassemia: The “Good Vibrations” Study
 Glutamine Study
 Thalassemia Intermedia and Exjade Study
 Exjade Palatability Study
 New Oral Chelator Study
 Innate Immunity Study
 Centers for Disease Control (CDC) Study
 
IV. Update on the SQUID Program
 
V. Update on Bone Densitometry (DXA)
 
VI. Overview of Upcoming Studies
 Transfusion Quality of Life (TranQoL) Study
 
VII. Publications/Abstracts in Medical Journals from Study Data
I. Thalassemia Clinical Research Network (TCRN):
  Thalassemia Longitudinal Cohort (TLC) Study
 
 Cardiac disease and pulmonary hypertension
 Iron measurement and chelation
 Hepatitis C and liver disease
 Growth and development, endocrine status, and fertility (including bone
health and pregnancy)
 Nutrition status
 Strategies for enhancing fetal hemoglobin
 Psychosocial issues, including quality of life
 Measures of compliance with prescribed regimens
 
 We would like to thank all of you who are currently participating in this important
study.
 
 
 Decitabine Study
This small pilot study has been open and enrolling since Fall 2008. It is being done to
examine the effects of the drug Decitabine, a new formulation of the drug 5-azacytidine.
Decitabine was shown to increase hemoglobin F (fetal hemoglobin) levels, and therefore
decrease anemia, in patients with sickle cell anemia. Decitabine has been found to be
very effective in increasing overall hemoglobin, and it is easier to tolerate than previous
similar drugs.
 This study will enroll eight non-transfused patients with thalassemia intermedia
that are over 18 years old. Patients will be enrolled at CHRCO; the Hospital for Sick
Children in Toronto, Canada; and Children’s Hospital Philadelphia. At this time, six
patients have completed the study. Based on the results of the small pilot study, the study
may be expanded in the future.
 Patients who participate must be willing to come into the clinical research center
two times per week on consecutive days. Each visit would last about 15 to 20 minutes.
The drug decitabine is given in a subcutaneous shot by a nurse. The total length of this
study is 12 weeks.
 
 Pulmonary Hypertension (PHT) Study
 
 Pain Prevalence Study
 II. Studies That Have Been Completed
(These are closed studies, not open for patient enrollment.)
 
 Zinc and Bone Metabolism in Thalassemia: The “Think Zinc” Study
Sites that participated in this study were CHRCO; the University of California, San
Francisco, Stanford; Children’s Hospital of Central California; and Children’s Hospital of
Philadelphia. The purpose of this study was to determine if zinc supplementation
improves bone health in young patients with thalassemia. It is theorized that patients with
thalassemia have osteoporosis (weak bones), in part due to zinc deficiency. Poor zinc
status has been identified in patients with thalassemia, and zinc supplementation has been
shown to improve growth, but its effects on bone health have never been studied.
 An 18-month study was just completed in 42 patients (aged 8 to 30) with
thalassemia who also had low bone mass. A group of 38 controls of similar age and
ethnicity (individuals without thalassemia) were also studied. Half of the thal group
received a capsule that contained 25 mg of zinc to be taken each day during the course of
the study, while the other half received a placebo pill. The last subject measurement was
completed in the end of September, and we are now actively analyzing the results.
 This was the first study to examine the effects of zinc supplementation on bone
health in patients with thalassemia. If zinc supplementation is found to have a clinically
important effect, this simple, safe, non-invasive therapy could quickly become a part of
standard thalassemia care and may improve overall health in children and adult patients
with thalassemia.
 We presented some preliminary findings at the New York Academy of Sciences
Cooley’s Anemia Symposium in October in New York City. Our thanks to all who
participated.
 
For more information, contact:
Ellen Fung, PhD, RD
Children’s Hospital & Research Center at Oakland
efung@mail.cho.org
510-428-3885, ext. 4939
 
Contributed by Ellen Fung, PhD, RD
 
 
 Combination Chelation Study (Desferal and L1)
This was a one-year study to determine if Desferal and deferiprone (L1) in combination
or Desferal alone helped more with increasing heart function. The study enrolled adults
(18 years and older) who were chronically transfused and had impaired heart function.
Heart function was assessed by echocardiogram and cardiac MRI T2*. In this study,
patients were randomly assigned to either arm (L1 and Desferal or Desferal alone) and
then followed for one year.
 This study was done at all the TCRN centers in the United States and Canada, as
well as in the United Kingdom and Lebanon. This study was closed early by the NHLBI
due to lack of enrollment. The data from this study is now being analyzed, and there will
be a publication in 2010.
 
For more information, contact:
Nancy Sweeters, RN, PNP
Children’s Hospital & Research Center at Oakland
nsweeters@mail.cho.org
510-428-3885, ext. 4151
 
Contributed by Nancy Sweeters, RN, PNP
 
 
 Pulmonary Hypertension (PHT) in Thalassemia: Mechanisms and Treatment
Dr. Sylvia Titi Singer and co-investigators have completed a study aimed at assessing
causes for the development of pulmonary hypertension (PHT) in thalassemia and
intervening with specific treatment based on these findings.
 This was a five-year study which looked at risk factors for developing PHT and
assessed the effects of two different treatments on the identified risk factors. PHT is
increasingly recognized as a cause for significant morbidity and mortality in patients with
thalassemia and is still frequently underdiagnosed because most patients do not undergo
routine monitoring of right heart pressure, which detects PHT. In addition, the risk factors
and causes are not fully understood. Therefore, the best treatment approach is not well
defined.
 From this study, the patients that enrolled received information about the presence
of clinical or laboratory markers that put them at higher risk for developing PHT or the
presence of PHT as seen on an echocardiogram. Data from this study is currently being
analyzed, and there will be a publication in 2010.
 
For more information, contact:
Sylvia Titi Singer, MD
Children’s Hospital & Research Center at Oakland
tsinger@mail.cho.org
510-428-3169
 
Contributed by Sylvia Titi Singer, MD
 
 
 Early Detection of Iron Cardiomyopathy in Thalassemia (EDICT)
Dr. Paul Harmatz and Dr. Elliott Vichinsky at CHRCO participated in a study being done
by Dr. John Wood, a cardiologist at CHLA. The purpose of the four-year study was to
measure the amount of iron in the heart and the liver with MRI T2* and to see if the
amount of heart and liver iron are related to how well the heart works (measured by other
cardiac tests). From this study, patients received information about the amount of iron in
their hearts, as well as a complete evaluation of how well their hearts are functioning.
 Data from this study has been published in the October 2008 issue of Blood
(Volume 112, issue 7, pp. 2973–8).
 
 
III. Studies Currently Being Conducted
(These studies are open for patient enrollment.)
 
Section I also has information about open TCRN studies on decitabine and PHT.
 
 Combination Chelation Study: Desferal and Exjade
Exjade and Desferal are both licensed drugs for chelation therapy in thalassemia, but the
safety of these drugs together has not yet been established. This study was originally
opened in Fall 2007 as a pilot study funded only at CHRCO. In Fall 2009, we completed
enrollment into the original pilot phase of this study. The safety profile of the
combination chelation is being analyzed and the first abstract for this study was
submitted to be reviewed for the American Society of Hematology (ASH) meeting in
New Orleans in 2009.
 Based on the preliminary data, we will be expanding this trial to include 20 more
patients (the original pilot study enrolled 15). All patients in this study get the
combination of Exjade (seven days per week) and Desferal (amount of days varies with
iron overload). Patients do not have to live in the area to participate in this study.
 To participate, patients must be over eight years old with transfusion dependent
thalassemia, and liver iron measured by SQUID must be over 1,500 mcg wet weight.
Patients must also be willing to take Desferal and Exjade.
 The study lasts for one year. There are a total of three visits to the CHRCO
Clinical Research Center (baseline, six months, and one year). You must be fasting, so
morning visits are best. At each of those visits, you will have an MRI T2*, SQUID,
ECHO/EKG, and labs. At each of your regularly scheduled transfusions, we will gather
regular clinical labs, get a copy of your physical exam, and ask you how you have been
doing at taking your medications.
 
For more information, contact:
Nancy Sweeters, RN, PNP
Children’s Hospital & Research Center at Oakland
nsweeters@mail.cho.org
510-428-3885, ext. 4151
 
Contributed by Nancy Sweeters, RN, PNP
 
 
 Juvenon Study
Ash Lal, MD, is conducting a small pilot study examining the potential benefits of a
nutritional supplement called Juvenon. Juvenon is a combination of L-carnitine and alpha
lipoic acid in one pill. People with thalassemia and sickle cell disease often have a
breakdown of red blood cells. This process releases damaging substances called “free
radicals.” A buildup of free radicals can lead to health problems. This study is looking at
the effect of Juvenon on free radicals and how it might prevent some health problems.
 Participants must be patients with thalassemia who are not getting regular blood
transfusions (e-beta thalassemia, hemoglobin H disease). Any such patients over 12 years
old who can swallow pills are welcome. You will help doctors in thalassemia to see if a
nutritional supplement can be helpful to patients in the future.
 The study lasts for six weeks. There are a total of three visits to the CHRCO
Clinical Research Center. You must be fasting, so morning visits are best. Each visit will
last about 30 minutes. We will ask some basic health questions and draw blood during
each study visit. You will be reimbursed for your time and travel.
 
For more information, contact:
Nancy Sweeters, RN, PNP
Children’s Hospital & Research Center at Oakland
nsweeters@mail.cho.org
510-428-3885, ext. 4151
 
Contributed by Nancy Sweeters, RN, PNP
 
 
 Fertility Study
Sylvia Titi Singer, MD is conducting a small pilot study examining the effects of iron
overload on the female reproductive system. When this system is affected severely in
women, they do not have their menstrual period on a regular basis or many not have it at
all. It can also make it hard for women to get pregnant when they want to. This is
probably caused by the toxic effect of iron in the organ that produces hormones which
allow a woman to become pregnant.
 This purpose of this study is to try to understand the relationship between iron
overload, hormones, and fertility in teens and women with transfusion dependent
thalassemia. There are two parts to the study: labs and a specialized ultrasound. You can
participate in the study even if you only have labs but do not want to do the ultrasound.
Any female patients over 14 years old with transfusion dependent thalassemia are
welcome. You will be given information about your fertility hormones, and if you
participate in the specialized ultrasound, you will be provided with further information
about your fertility status.
 The study is one to two visits only. You must be fasting, so morning visits are
best. The visit at CHRCO will last about 30 minutes. The specialized ultrasound is done
by the UCSF Women’s Center and takes approximately 30 minutes. We will provide
transportation to the UCSF site. At the CHRCO visit, we will ask some basic health
questions and questions about your chelation history.
 
For more information, contact:
Nancy Sweeters, RN, PNP
Children’s Hospital & Research Center at Oakland
nsweeters@mail.cho.org
510-428-3885, ext. 4151
 
Contributed by Nancy Sweeters, RN, PNP
 
 
 Strengthening Bones in Thalassemia: The “Good Vibrations” Study
The purpose of this study is to determine if “vibration therapy” improves bone health in
young patients with thalassemia. Osteoporosis (weak bones) is a significant problem in
patients with thalassemia that leads to decreased quality of life.
 The most effective way to prevent osteoporosis is to build strong, dense bones
during youth. Cardiovascular, weight-bearing, physical activity strengthens bone by
increasing bone quality and size. However, exercising regularly can be difficult for
patients with thalassemia due to low energy levels or pre-existing cardiac problems.
Recent studies have shown that low-magnitude mechanical stimulation or “vibration
therapy” can also strengthen bone. This simple therapy can be conducted in the home and
does not increase strain on the heart.
 This study will evaluate “vibration therapy” as a bone-strengthening therapy in 20
patients with thalassemia. The study will be placebo-controlled, meaning that one group
of patients will be given a platform that actively vibrates, while the other patients will be
given a placebo platform. Patients will be asked to stand on their platforms for a daily
session of 20 minutes. After six months, patients will switch platforms and repeat for
another six months.
 The proposed study will test the feasibility of conducting the intervention in
patients with thalassemia and generate preliminary data to develop a larger randomized
clinical trial for vibration therapy in thalassemia-associated osteoporosis. Patients 10
years and up with all types of thalassemia are welcome. Participants must also have low
bone mass (defined as a bone mineral density Z-score by DXA less than -1.0 performed
within the previous two years). Patients who are pregnant, are currently taking a
bisphosphonate medication for osteoporosis, or who have untreated endocrinopathies
may not participate.
 The study will be done at CHRCO, and it lasts for one year (12 months),
beginning approximately in February 2010. Patients will be asked to stand on an active
vibrating platform or a placebo for daily sessions of 20 minutes, six days a week. Five
times during the study (beginning, three months, six months, nine months, and one year),
patients will be asked to come to the pediatric clinical research center to do the following:
 
 measure height and weight
 complete a questionnaire on dietary and exercise habits
 have blood drawn and provide a urine sample
 come to the HEDCO Health Science Building to undergo bone density testing
 
Twice during the study (at three months and nine months), patients will be asked to wear
a device at the hip for seven days to monitor their physical activity.
 At the beginning of the study, you will be given a complete dietary assessment
and information on bone health. Afterward, you will have free bone density assessments.
You will also be reimbursed for parking, meals, time, and effort related to study
participation.
 
For more information, contact:
Ellen Fung, PhD, RD
Children’s Hospital & Research Center at Oakland
efung@mail.cho.org
510-428-3885, ext. 4939
 
Contributed by Catherine Gariépy, MS, and Ellen Fung, PhD, RD
 
 
 Glutamine Study
The purpose of this research study is to find out how glutamine, an important amino acid
found naturally in the body and some foods, affects people with sickle cell disease and
thalassemia who have PHT. Participants must have sickle cell disease or thalassemia and
they must have PHT as indicated by test results. PHT can cause fatigue, dizziness, and
shortness of breath because the blood vessels that supply the lungs narrow, forcing the
heart to work harder to push blood through. People with PHT tend to have more health
problems (shortness of breath, pain crisis in sickle cell disease, pneumonia, and death)
than those without PHT. Because of this increased risk, we want to find new treatments
for PHT.
 We believe that certain conditions present in those with sickle cell disease and
thalassemia may contribute to developing PHT. In particular, hemolysis (the breaking
apart of red blood cells, which causes anemia) may contribute to PHT. We think
glutamine may decrease inflammation and hemolysis in your body. We will measure any
changes by doing specialized blood tests and a echocardiogram. By decreasing
inflammation in the body, we may be able to prevent or treat PHT.
 Glutamine is the most abundant naturally occurring amino acid in the body. It
helps build other important proteins and provides fuel for some cells (especially cells of
the immune system, the small intestine, and the kidneys). Glutamine has been shown to
help in healing wounds and is sometimes used to treat tissue injuries from accidents,
burns, or other trauma, or after surgery. It is also sometimes given to babies born very
small for their age to improve their nutrition and to help their intestines work properly.
Glutamine can also be found in many foods (meat, fish, dairy, beans, spinach, parsley and
cabbage). It is available as a nutritional supplement and is marketed to help build
muscles. However, glutamine is currently not a standard of care for PHT for patients with
sickle cell disease or thalassemia.
 About 30 people (15 people with sickle cell disease and 15 with thalassemia),
ages four and older, will be in this study, which will last for eight weeks. We will also be
looking for people that do not have thalassemia or sickle cell to be control subjects for
results comparisons.
 There is an optional pharmacokinetics (PK) part of the study. You do not have to
be in the main study to do the PK portion. In the PK study, the patient is given one dose
of arginine in the morning, and during that day, multiple blood draws are done from an
IV and tested for the amount of arginine in the blood.
 We hope that taking the glutamine will help improve the underlying causes of
your PHT, but we cannot be certain that will happen. Information we get from this study
may contribute to a better understanding of your disease and may be useful in selecting
medicines for your future treatment.
 
For more information, contact:
Michael Ansari
Study Coordinator
Children’s Hospital & Research Center at Oakland
mansari@mail.cho.org
510-428-3885, ext. 2858
 
Contributed by Nancy Sweeters and Michael Ansari
 
 
 Thalassemia Intermedia and Exjade Study
This is a clinical research study of patients with thalassemia intermedia who do not
require regular blood transfusions and have too much iron in the body. The excess iron
comes from the frequent breakdown of red blood cells and from increased absorption of
iron from food. Too much iron damages organs in the body—particularly the liver and
the heart. Since the body cannot eliminate iron on its own, a chelator is used to remove
excess iron. There is no chelator approved for use by people who are not receiving
regular blood transfusions. Deferasirox (Exjade) is an iron chelator that is approved by
the FDA for people who have too much iron because of blood transfusions. This study
will look at the effectiveness and safety of chelation therapy with deferasirox in people
with thalassemia intermedia who do not get regular blood transfusions but who have too
much iron in their bodies. In order to tell if deferasirox is effective, the study will
compare it to a placebo.
  Participants must be at least 10 years old, with a liver iron concentration of at
least 5 mg/g dry weight as measured by MRI, and a serum ferritin of at least 300 ng/ml.
Patients currently on therapy with hydroxyurea, erythropoietin, or butyrate; a history of
deferasirox treatment; or a blood transfusion in the six months before starting the study
are ineligible.
 The study, which began in October 2009, involves one year on a drug or placebo.
Participants have two screening visits over one month for MRI, echocardiogram and
EKG, vision, and hearing assessments, and blood and urine sampling. You will be
assigned to take either a placebo or deferasirox at a dose of 5 mg/kg/day or 10
mg/kg/day; your chance of getting active drug is 2 to 1.
 Every week during the first month, patients must come to the pediatric clinical
research center for a blood draw and vital signs. Then every month for the next 11
months, you will come to the pediatric clinical research center for blood and urine
sampling, a physical exam, and vital sign readings.
 After six months, you will have an MRI to measure liver iron; the dose of study
drug may be adjusted at this visit. Finally, after 12 months, you will have a final MRI,
echocardiogram and EKG, vision, and hearing assessments.
 Participants will receive regular medical care and assessment of liver iron and
heart function and will be eligible for a longer, open label study (everyone gets
deferasirox, no placebo) at the end of this trial. Subjects will also get reimbursement for
effort related to study participation.
 
For more information, contact:
Jacqueline Madden, RN, PNP
Children’s Hospital & Research Center at Oakland
jmadden@mail.cho.org
510-428-3885, ext. 5745
 
Contributed by Jacqueline Madden, RN, PNP
 
 
 Exjade Palatability Study
The purpose of this study is to see if it is easier to take Exjade (deferasirox) mixed in soft
foods or in a drink other than water, orange juice, or apple juice. This study will see how
well people like taking Exjade with breakfast, with dinner, or without food. The study
also looks at whether taking Exjade mixed in food or with meals will change the stomach
problems some people have taking it.
 The study began in May 2009. Participants must be at least two years old, already
on Exjade or just starting, and with a serum ferritin of at least 500 ng/ml. The study will
monitor patients for four months on the drug.
 The study involves a screening visit for vision and hearing assessments, and blood
and urine sampling. For the first month, patients take Exjade once a day as prescribed:
first thing in the morning on an empty stomach; mixed with water, orange juice or apple
juice; wait for 30 minutes before eating. For the next three months, patients take Exjade
once a day: crushed and added to a soft food or mixed in any liquid; with breakfast or
dinner or not with a meal. Every week, subjects answer questions in a diary about how
they are taking Exjade and how it makes their stomachs feel. Every month for four
months, patients must come to the pediatric clinical research center for blood and urine
sampling and vital signs and to return the diary and pill bottles. Participants receive
regular medical care, four months of Exjade, and reimbursement for efforts related to
study participation.
 
For more information, contact:
Jacqueline Madden, RN, PNP
Children’s Hospital & Research Center at Oakland
jmadden@mail.cho.org
510-428-3885, ext. 5745
 
Contributed by Jacqueline Madden, RN, PNP
 
 
 New Oral Chelator Study
FBS0701 is a new, oral iron chelator. Results from tests in animals suggest that FBS0701
has potential usefulness in the treatment of iron overload resulting from frequent blood
transfusions. FBS0701 is, however, an investigational drug, meaning that it still in an
early stage of development and that its safety and effectiveness in humans have yet to be
fully established. The purpose of this study is to look at the safety of increasing doses of
FBS0701 and to see how quickly the study medicine is absorbed and how quickly it
disappears from the bloodstream. Drug doses will start at 3 mg/kg/day, and after four
people have completed that level safely, the dose will be increased to 8 mg/kg/day. The
dose will be increased to 16 mg/kg/day and 32 mg/kg/day once four people have safely
completed the previous dose levels.
 Participants for this study, which began in October 2009, must be at least 18 years
old with a serum ferritin of at least 600 ng/ml. Subjects’ liver iron must be at least 3.5 mg
iron in the six months before starting the study, and heart iron must be at least 12 ms in
the 12 months before starting the study. They must also be willing to discontinue all
chelation therapies for about three weeks. Patients will take FBS0701 for seven days and
undergo four weeks of follow-up.
 The study involves a screening visit for blood and urine sampling, a physical
exam, and an EKG. Patients will come to the pediatric clinical research center on days 1,
3, and 6 of the week to take the study drug and have a blood sample taken; the study drug
will be taken at home on days 2, 4 and 5.
 On day 7, patients come to the Children’s Hospital Day Hospital for a nine-hour
stay with frequent blood sampling and an EKG, and start a 24-hour urine collection. On
day 8, patients come to the pediatric clinical research center to finish the 24-hour urine
collection and for blood sampling. Patients will the return to the pediatric clinical
research center on days 9, 10, 15, 21, and 35 for blood samples, urine samples, and a
physical exam. Patients will receive regular medical care and reimbursement for effort
related to study participation, and there will be the possibility for participation in later
studies of FBS0701
 
For more information, contact:
Jacqueline Madden, RN, PNP
Children’s Hospital & Research Center at Oakland
jmadden@mail.cho.org
510-428-3885, ext. 5745
 
Contributed by Jacqueline Madden, RN, PNP
 
 
 Innate Immunity Study
Some people with thalassemia need to have regular blood transfusions (about once or
twice per month). While these transfusions are lifesaving, the blood also contains a large
amount of iron which the body is unable to eliminate. The iron builds up inside the body,
causing damage to certain organs. A strong immune system is necessary to fight
infections in the body. It is possible that iron damages the immune system, which may
lead to an increase in bacterial infections.
 This study is being done to examine the effect of iron on the immune system.
Thalassemia patients and matched healthy controls (people without thalassemia) will be
asked to participate in the study.
 The study only requires one visit to the clinic. Subjects will come to CHRCO
between 8 a.m. and 10 a.m., where they will be asked questions about their medical
history. They will also have height and weight measured and receive a full physical
examination. Females over the age of 12 will be given a urine pregnancy test.
 Participants will also be given a blood test. Thalassemia patients will have about 4
teaspoons of blood drawn, either from the IV for their regular transfusion or from their
pre-transfusion blood draw the day before (but not after transfusion). Subjects with
thalassemia will be asked to stop chelation for 72 hours before the blood test. Subjects
without thalassemia will have about 4 teaspoons of blood drawn from a needle in the arm.
 All participants must fast, (except for water and medications) for 10 to 12 hours
before their blood is drawn in the morning. We will provide breakfast after patients have
their blood drawn.
 
For more information, contact:
Nancy Sweeters, RN, PNP
Children’s Hospital & Research Center at Oakland
nsweeters@mail.cho.org
510-428-3885, ext. 4151
 
Contributed by Nancy Sweeters, RN, PNP
 
 
 Centers for Disease Control (CDC) Study
This national study was set up by the Centers for Disease Control (CDC) to monitor the
safety of the nation’s blood supply. The CDC is collecting blood samples from people
with thalassemia to investigate the diseases that people can potentially get from blood.
This study is enrolling patients of all ages and requires a once-yearly blood sample (about
2 teaspoons) and a questionnaire about your (or your child’s) health. The blood sample
will be tested to see if you (or your child) have been exposed to hepatitis A, B, or C or
HIV. You can get the results of these tests from your health care provider. The
information gained from this study will be used to help thalassemia specialty centers
improve patient care.
 
For more information, contact:
Nancy Sweeters, RN, PNP
Children’s Hospital & Research Center at Oakland
nsweeters@mail.cho.org
510-428-3885, ext. 4151
 
Contributed by Nancy Sweeters, RN, PNP
 
 
IV. Update on the SQUID Program
Since 2002, the SQUID has been an integral part of thalassemia care at CHRCO. We
have been following many thalassemia patients, and their yearly visits have given us a
good history of their liver iron concentration over the past seven years. The SQUID
allows the thalassemia team to monitor iron concentration in the livers of patients and
gives the team a reliable tool to adjust medication in order to avoid serious complications.
Recently, some insurance companies have realized the importance of the SQUID in
thalassemia care and have started covering the cost of the procedure.
 
For more information, or to schedule a SQUID, please contact:
Catherine Gariépy
Study Coordinator
Children’s Hospital & Research Center at Oakland
cgariepy@mail.cho.org
510-428-3885, ext. 4248
 
Contributed by Catherine Gariépy
 
 
V. Update on Bone Densitometry (DXA):
Patients with thalassemia frequently have low bone mass, and we are finding that many
adults experience significant bone pain and have increased risk of fracture. These
complications are not limited to patients with thalassemia major but are also observed in
non-transfused intermedia, e-beta thalassemia, and hemoglobin H patients. The most
effective way to prevent low bone mass is to build strong, dense bones during youth. A
combination of disease, endocrine issues, and nutritional factors likely contribute to the
etiology of osteoporosis in patients with thalassemia. To help build healthy bones, it is
important to do the following:
 
 consume a diet rich in calcium
 have your vitamin D levels checked
 participate in non-contact, weight-bearing physical activity as tolerated
 get a measurement of your bone density every one to two years (DXA scan)
 have an endocrine evaluation as indicated by your doctor
 
If you already have low bone mass, there are treatments that can improve and/or stop the
condition from progressing. It is important to discuss this with your health care provider.
 
For more information, contact:
Ellen Fung, PhD, RD
Children’s Hospital & Research Center at Oakland
efung@mail.cho.org
510-428-3885, ext. 4939
 
Contributed by Ellen Fung, PhD, RD
 
 
VI. Overview of Upcoming Studies
 
 Transfusion Quality of Life (TranQoL) Study
Researchers have met with people who have thalassemia, their parents if they are under
age 18, and health care professionals from Canada and made a questionnaire about what
was important to the quality of life (QoL) of people diagnosed with thalassemia. The
questionnaire is called the TranQol, which stands for transfusion quality of life.
 The TranQol is made up of 37 questions for adult thalassemia patients that ask
how thalassemia and transfusions affect your life. There are 29 questions on the child
questionnaire and 38 questions on the parent questionnaire that ask how thalassemia and
transfusions affect your life. The TranQoL questionnaire has been used at one center in
Toronto—the purpose of this study is to expand the use of the questionnaire at other
hospitals with patients who have thalassemia to see if it is relevant in other areas of the
United States.
 This study, which begins in Winter 2010, will take place in thalassemia centers in
Canada and the United States. It is hoped that in the future, the TranQol questionnaire
will be used in other thalassemia studies and clinics to learn more about everyday lives of
people with thalassemia around the world.
 We will enroll a total of total of 50 patients over the age of 18; 50 children over
age 7 and their parents; and 25 parents of children under 7 years old. This study involves
completing the TranQol questionnaire at three different time points. There are no right or
wrong answers.
 Patients will be asked to complete the TranQol questionnaire packets at three
times in one transfusion cycle:
 
 prior to transfusion
 two weeks after transfusion
 prior to next transfusion
 
Completing the questionnaires should take about 30 minutes.
 
For more information, contact:
Nancy Sweeters, RN, PNP
Children’s Hospital & Research Center at Oakland
nsweeters@mail.cho.org
510-428-3885, ext. 4151
 
Contributed by Nancy Sweeters, RN, PNP
 
 
VII. Publications in Medical Journals from TCRN Study Data
Vogiatzi, M.G., E.A. Macklin, F.L. Trachtenberg, E.B. Fung, A.M. Cheung, E.
Vichinsky, N. Olivieri, M. Kirby, J.L. Kwiatkowski, M. Cunningham, I. Holm, M.
Fleisher, R.W. Grady, C. Peterson, and P.J. Giardina. “Differences in the Prevalence of
Growth, Endocrine and Vitamin D Abnormalities among the Various Thalassemia
Syndromes in North America.” British Journal of Haematology, July 13, 2009 (e-pub
ahead of print).
 
 
Thalassemia Research and Care: An Update
Production Editor: Laurice Levine, MA, CCLS
Editor: Matt Levine
For more information or to request additional copies, please contact:
Laurice Levine, MA, CCLS
Thalassemia Outreach Coordinator
Children’s Hospital & Research Center at Oakland
510-428-3885, ext. 5427
LLevine@mail.cho.org

Sorry for the lengthy quote 

Note some of these exciting studies being done in Oakland.  The healthy bones is a very important concern for thalassemics.  Recent studies have shown zinc and vitamin D are essential in maintaining healthy bones.  Zinc in these studies has shown to increase bone density.  Please ensure that you are on a good zinc supplement. 

Note also the 'good vibrations' study.  Dr. Vichinsky spoke with us about it while we were there.  As thalassemia patients' life spans increase - chelators allow for healthier hearts, livers and pancreas's - we must not forget about healthy bones.  Maintaining good hemoglobins, proper excercise and diet are necessary to protect yourself from osteoporosis and fractures.

Many people will also be interested in some of the other studies, such as the decitabine study.  Some of our thal intermedias can benefit from many of these studies in the near future. 

Sharmin