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Clinical Trials and Research

Clinical trials and research
▶ Table of Contents
  1. TCRN
  2. Closed Studies
  3. Open Studies
  4. SQUID Update
  5. DXA Update
  6. Upcoming Studies
  7. Published articles
▶ 2012 Research Update (pdf)

Thalassemia Research and Care: 2013

Studies Currently Being Conducted

(These studies have patients who are enrolled and/or are actively looking for new patients to enroll.)


A Phase 1/2 Open Label Study Evaluating the Safety and Efficacy of Gene Therapy in Subjects with Beta-Thalassemia Major by Transplantation of Autologous CD34 Stem Cells Transduced Ex Vivo with a Lentiviral Β A-T87QGlobin Vector (LentiGlobin ® BB305 Drug Product)

Objectives: Evaluate the safety and efficacy of treatment with LentiGlobin ® BB305 Drug Product in subjects with Β -Thalassemia Major.

Study Design: This is a non-randomized, open label, multi-site, single-dose, Phase 1/2 study in up to 15 adults with Β Thalassemia major who receive at least 100 mL/kg/year of packed red blood cells (pRBC) or >=8 transfusions of pRBC per year in each of the 2 years preceding enrollment. This represents a population with severe disease at high risk of morbidity and mortality from transfusional iron overload. The study will evaluate the safety and efficacy of autologous hematopoietic stem cell transplantation using LentiGlobin ® BB305 Drug Product.

For more information, contact:

Elliott Vichinsky, M.D.
Children’s Hospital & Research Center Oakland
evichinsky@mail.cho.org
(510) 428-3651

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Iron Absorption in Thalassemia: Ferrous Vs. Ferritin

Objective: To determine if iron absorption varies from various sources of iron in patients with non-transfusion-dependent thalassemia.

Study Design: This is a one-day study open to thalassemia intermedia patients (non-transfusion-dependent) age 10 years and older. After a 10-hour overnight fast, subjects will consume iron in one of 3 forms, followed by a low-iron test meal (breakfast). Blood samples for serum ferritin testing will be taken at periodic intervals and will end 24 hours later.

For more information, contact:

Ellen Fung, PhD, RD
Children’s Hospital & Research Center Oakland
efung@mail.cho.org
(510) 428-3885, ext. 4939

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Deferasirox (ICL670, Exjade ®) in non-transfusion-dependent thalassemia: A randomized, double-blind, placebo-controlled, phase II study to evaluate efficacy and safety of deferasirox in non-transfusion-dependent thalassemia patients with iron overload

Background: Humans are unable to actively eliminate excess iron from the body. This has clinical significance when excess iron accumulaes due to repeated blood transfusions, or when intestinal iron absorption is abnormally incresed, as observed in thalassemia as a result of the underlying anemia and ineffective erythropoiesis. There is a group of clinically milder forms of thalassemia syndromes (Beta and Alpha thalassemia variants, including Hemoglobin H disease) who require no or only occasional transfusional support. Non-transfusion-dependent thalassemia patients become iron overloaded primarily due to increased gastrointestinal absorption of iron secondary to ineffective erythropoiesis.

Objective: This study will prospectively assess the efficacy of deferasirox vs. placebo in non-transfusion-dependent thalassemia patients with iron overload (LIC >= 5 mg/g liver dry weight, and ferritin > 300 ng/ml), age 10 years and older, who have not received transfusion in the 6 months prior to study entry.

Study Design: Subjects will be assigned to 52 weeks of treatment with either deferasirox or a placebo, with two different dosing regimens (5 mg/kg/day or 10 mg/kg/day). Dose escalation will not be performed during the study, and no interim analysis is planned. An independent monitoring committee will review safety data and advise on study continuation or changes to the protocol.

For more information, contact:

Elliott Vichinsky, M.D.
Children’s Hospital & Research Center Oakland
evichinsky@mail.cho.org
(510) 428-3651

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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 2011, we completed enrollment for the original pilot phase and extension of this study. The safety profile of the combination chelation was analyzed, and the first manuscript for this study was submitted to be reviewed by a medical journal in November 2011. We plan on the publication of this article in 2012.

Currently, we are following the final five patients enrolled in this study for a second year. We expect to have the second year follow-up for this study completed by the end of 2012.

We want to thank all the patients who participated in this study to make it such a success!

For more information, contact:

Nancy Sweeters, RN, PNP
Children’s Hospital & Research Center Oakland
nsweeters@mail.cho.org
(510) 428-3885, ext. 4151

Contributed by Nancy Sweeters, RN, PNP

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Thalassemia Longitudinal Cohort (TLC) Study—Extension

The TLC Study has been very successful, enrolling over 400 patients with transfusion-dependent thalassemia to be followed over two to three years. This study is now closed to enrollment because the number of needed patients was achieved. At this time, the TLC is doing yearly follow-up visits with the patients who were enrolled previously. The TLC continues to correspond to the following eight areas identified by the TCRN Steering Committee as critical to thalassemia research (see below), and publications in these areas are currently being developed.

We would like to thank all of you who are currently participating in this important study.

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Fertility Study

Dr. Sylvia Titi Singer is conducting a small pilot study examining the effects of iron overload on the female and male reproductive systems. When this system is affected severely in women, they do not have their menstrual period on a regular basis and many do not have it at all. The condition can also make it hard for women to get pregnant when they want to, most likely due to the toxic effect of iron in the organ that produces hormones which allow a woman to become pregnant. The endocrine system in males is also affected by iron overload, which can affect the male reproductive hormones and the ability of males to father children.

The purpose of this study is to try to understand the relationship between iron overload, hormones, and fertility in teen and adult males and females with transfusion-dependent thalassemia. The study includes: labs and a pituitary MRI for both males and females. There is an optional sperm analysis done for males over 18 years. Any female or male patients over 12 years old with transfusion-dependent thalassemia are welcome. You will be given information about your fertility hormones, and if males participate in the sperm sample, they will be provided with further information about their fertility status.

The study is one to two visits only. You must be fasting, so morning visits are best. The visit at Children’s Hospital & Research Center Oakland will last about 30 minutes. The sperm sample is done by the Reproductive Science Center in San Ramon and will require a special visit. We will reimburse for transportation costs to San Ramon. During the CHRCO visit, we will ask some basic health questions and questions about your chelation history.

For more information, contact:

Olivia Oliveros
Children’s Hospital & Research Center Oakland
oliveros@mail.cho.org
(510) 428-3885, ext. 4987

Contributed by Olivia Oliveros

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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 pulmonary hypertension (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 the 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 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 disease 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:

Melinee Stewart
Study Coordinator
Children’s Hospital & Research Center Oakland
mstewart@mail.cho.org
(510) 428-3885, ext. 2858

Contributed by Melinee Stewart

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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 is looking at the effectiveness and safety of chelation therapy via deferasirox in people with thalassemia intermedia.

In the first year of the study, Exjade was compared to a placebo (“sugar pill”). There were no unexpected, serious, adverse events, so a longer, open-label study where everyone gets deferasirox (no placebo) was started. This study will be completed in the summer of 2012. No new subjects are being enrolled.

For more information, contact:

Jacqueline Madden, RN, PNP
Children’s Hospital & Research Center Oakland
jmadden@mail.cho.org
(510) 428-3885, ext. 5745

Contributed by Jacqueline Madden, RN, PNP

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New Oral Chelator Study

FBS0701 is a new oral iron chelator. It comes in a capsule and is taken once a day. Its safety and effectiveness in the treatment of iron overload resulting from frequent blood transfusions in humans is currently being studied. There is one ongoing study in adults that is closed to new subjects. A second study, comparing FBS0701 to another chelator, will be opening later this year. There is also a pediatric study that is open and enrolling now.

Participants in the current adult study, which began in August 2010, take FBS0701 once a day and come in for study visits every four weeks. Every three to six months, an MRI is done to check iron stores in the liver and heart. The adult study was originally designed for subjects to be on the study drug for six months. This was extended, first for another six months, and again for an additional 12 months. If no new risks are identified, the study will most likely continue for at least another year.

So far, subjects report few GI problems when using FBS0701. There have been no serious adverse events related to the study drug. Adverse events possibly related to FBS0701 include: headache, flatulence, a change in the color of urine, warmth in the stomach, blood in the urine, catching the common cold, a change in the sense of taste, and increases in liver enzymes, diarrhea, indigestion, and pain in the upper abdomen.

Original dose levels were 16 mg/kg or 32 mg/kg per day. Most subjects have had their doses increased over the course of the study. New safety information will allow for an increase to 60 mg/kg, if necessary.

The pediatric study is enrolling subjects in two age groups: 6 to 12 years, and 12 to 17 years old. The study looks at safety and how well FBS0701 works at getting rid of iron over 12 months. The study drug is taken on an empty stomach. Subjects must be getting regular transfusion or apheresis and have iron overload (for example, a high serum ferritin and increased liver iron). They must also be willing to stop all chelation therapies for about two weeks.

The study involves a screening visit for blood and urine sampling, a physical exam, an ECG, and an MRI. If subjects continue in the study, they will come to the Pediatric Clinical Research Center once a week for the first month, every two weeks for the second month, and then once a month for the rest of the year. At study visits, blood samples and urine samples will be taken and a brief physical exam will be done. Every three months, additional testing (ECG, MRI) will be done. Subjects will receive regular medical care and reimbursement for transportation and efforts related to study participation.

For more information, contact:

Jacqueline Madden, RN, PNP
Children’s Hospital & Research Center Oakland
jmadden@mail.cho.org
(510) 428-3885, ext. 5745

Contributed by Jacqueline Madden, RN, PNP

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Innate Immunity Study

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:

Olivia Oliveros
Children’s Hospital & Research Center Oakland
oliveros@mail.cho.org
(510) 428-3885, ext. 4987

Contributed by Olivia Oliveros

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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:

Olivia Oliveros
Children’s Hospital & Research Center Oakland
oliveros@mail.cho.org
(510) 428-3885, ext. 4987

Contributed by Olivia Oliveros

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Multi-Center Study of Iron Overload (MCSIO) Study

This is the latest Multi-Center Study of Iron Overload (MCSIO) project. For over 10 years, CHRCO has been collaborating with other clinics around the world to understand the differences in how iron overload affects people with thalassemia, sickle cell disease, and diamond blackfan anemia.

There are two parts to the current MCSIO project: the pilot study and the survey study. The pilot study is nearly complete. That study involves getting an MRI to look at the amount of iron in the liver, heart, and pituitary gland (a small part of the brain that helps regulate the body’s balance of hormones) and having blood samples taken just before and one week after a transfusion. This study was done to find the best ways of measuring iron in the body.

The survey study is still enrolling. Subjects who consent to be in the study will be asked questions about their medical history, chelator use, and transfusions. Subjects also will allow study staff to review their medical records for this information. No extra visits, no testing, and no treatments are part of this study. The purpose of this project is to gather data from people who have had regular transfusions for 10 to 20 years, starting before the age of 10. This information will help design a larger study comparing how iron moves through cells in the body and where it gets stored.

For more information, contact:

Jacqueline Madden, RN, PNP
Children’s Hospital & Research Center Oakland
jmadden@mail.cho.org
(510) 428-3885, ext. 5745

Contributed by Jacqueline Madden, RN, PNP

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Mitochondrial Function in Disorder of Iron (MitoIron):
Functional Significance of Mitochondrial DNA Abnormalities in Thalassemia Major Study

Mitochondria are the energy-producing parts of our cells. Pre-clinical studies have revealed the marked susceptibility of their function to excess iron. Hence, the preservation of mitochondrial function should be a goal of iron chelation therapy.

Using new techniques, we can monitor mitochondrial health in peripheral blood samples. We are studying if the mtDNA defects in thalassemia major are linked to the degree of iron overload and oxidative stress. We will also evaluate if mitochondrial defects are related to the ability of immune cells to work properly. This will help us to develop a functional assessment of iron chelation therapy, which is currently based entirely on the measurement of tissue iron burden. The study will enroll 20 individuals with thalassemia who are on chronic transfusions. Participation entails a one-time fasting blood sample.

For more information, contact:

Ash Lal, MD
Children’s Hospital & Research Center Oakland
alal@mail.cho.org
(510) 428-3172

Contributed by Ash Lal, MD

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Physical Activity Assessment Study

This is a study of physical activity patterns in patients with thalassemia. It is a sub-study of the “Good Vibrations” study and funded through a grant from the Cooley’s Anemia Foundation.

The study will be done at CHRCO. A total of 30 patients with thalassemia will be enrolled, in addition to 30 control subjects (people without thalassemia). Patients need to be more than 10 years of age and not pregnant. Patients will be asked to come to the HEDCO Health Science Center. They will be asked to complete a 10-minute questionnaire on exercise habits and have their height and weight measured. Patients will also be asked to wear an actigraph (a small electronic device attached to a belt around the hip) for the weeks prior to and after transfusion. Non-transfused subjects wear the actigraph for one week only. Participants will be provided a $20 Target gift card for their contributions.

For more information, contact:

Ellen Fung, PhD, RD
Children’s Hospital & Research Center Oakland
efung@mail.cho.org
(510) 428-3885, ext. 4939

Contributed by Ellen Fung, PhD, RD

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Nutrition and Thalassemia Study

We have found that some patients with thalassemia have low levels of nutrients in their blood, possibly related to marginal nutritional status. These deficiencies may be caused by an increased requirement for the nutrient in patients with thalassemia or related to poor dietary intake. The relationship between dietary intake and circulation levels has not been explored in patients with thalassemia.

The study will be done at CHRCO. A total of 50 patients with thalassemia who are scheduled for a comprehensive clinical evaluation will be enrolled. Patients need to be more than five years of age and not pregnant. At the time of their comprehensive evaluation, patients will be asked to complete a 30-minute food frequency questionnaire, answer questions regarding personal medical history, and have their height and weight measured. They will also be asked to complete a 3-day dietary food record before their clinic visit.

There are no extra blood draws, examinations, or procedures as part of this study. Subjects will receive information about their usual dietary intake of some nutrients and be provided with a $10 Target gift card for study participation.

For more information, contact:

Ellen Fung, PhD, RD
Children’s Hospital & Research Center Oakland
efung@mail.cho.org
(510) 428-3885, ext. 4939

Contributed by Ellen Fung, PhD, RD

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Northern California Comprehensive Thalassemia Center
747 52nd Street, Oakland CA 94609   •   Phone: (510) 428-3651   •   Fax: (510) 450-5647
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