Thalassemia MajorNCT02307786
Long Term Outcomes in β Thalassemia Major
An observational study of Thalassemia Major, run by Ann & Robert H Lurie Children's Hospital of Chicago at 1 site in United States.
Trial summary
Beta thalassemia (β-thalassemia) is the most common genetic disease worldwide. Individuals with thalassemia are born with a defect in hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen to vital organs such as the brain, heart, lungs and kidneys. Read more about this study
- Who is it for?
- Ages 0 to 30 years
- Conditions the study is for
- Thalassemia Major
- How many people
- 176 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2014to 30 Nov 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 30 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: The study population will be divided into the following groups: * Recipients that are >1 year post allogeneic HSCT from any donor * Patients ('Controls') enrolled on the Thalassemia Longitudinal Cohort study and/or the Thalassemia Clinical Registry Network (TCRN) and continue to receive supportive care
Who may be able to join
- Age 0 to 30 years of age
- >1 year post-allogeneic HSCT for Beta-Thalassemia. Any donor (sibling or unrelated) and any donor source (bone marrow, peripheral blood, umbilical cord blood) is considered eligible. Any conditioning regimen is considered acceptable for enrollment
Who cannot join
- <1 year post-allogeneic HSCT for Beta-Thalassemia
- Patient expired prior to 1 year post-HSCT
- Autologous stem cell transplantation for Beta-Thalassemia
Trial locations and contacts
1 site in 1 country.
United States1 site
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
About this study
Official title: Long Term Outcomes in β Thalassemia Major - Comparing Late Outcomes Following Allogeneic Hematopoietic Stem Cell Transplantation and Standard Supportive Care
Beta thalassemia (β-thalassemia) is the most common genetic disease worldwide. Individuals with thalassemia are born with a defect in hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen to vital organs such as the brain, heart, lungs and kidneys. Thalassemia major is a hereditary anemia characterized by little or no ß-globin production, which results in hemolysis (breakdown or destruction of red blood cells) due to the formation of unstable alpha-globin tetramers and ineffective erythropoiesis which is uniformly fatal in the absence of regular transfusions. Although improvements in conservative treatment have improved the prognosis of thalassemia considerably disease and transfusion related complications in affected patients progress over time, causing severe morbidity and shortened life expectancy. Substantial lifelong health care expenses are also involved, often a financial burden for families and unsustainable in most developing countries.
The hypothesis is that patients who had beta thalassemia who have undergone a hematopoietic stem cell transplant (HSCT) and are >1 year post-HSCT will have less long term comorbidities and a higher quality of life (QOL) as compared to those with beta thalassemia who are maintained on supportive care. In order to assess quality of life, a quality of life questionnaire will be asked. Extraction of data from the patient's medical record will also be used to determine any comorbidities that have occurred after either a HSCT or supportive care therapy.
Read the detailed description
Hematopoietic stem cell transplantation (HSCT) is considered a suitable alternative to conservative management which includes chronic transfusion therapy, iron chelation (iron overload) and management of complications of transfusion therapy and iron overload. Barriers to HSCT considerations include risks inherent to transplant- early mortality, graft versus host disease (GVHD), graft rejection, infections prior to immune reconstitution, and transplant related organ toxicities. As in supportive care, significant progress has been made in HSCT for thalassemia has been made over the last 3 decades. This has resulted in disease-free survival (DFS) rates exceeding 80% especially in young, low-risk patients with histocompatible (same gene) family donors and more recently even in unrelated donor transplants following streamlining of preparative regimen and improvements in post-HSCT supportive care.
Lucarelli and his colleagues at Pesaro initially pioneered HSCT in thalassemia and described a standard "Pesaro" risk stratification scheme based on liver size by physical examination, fibrosis detected on liver biopsy, and chelation history. This has been used for years to risk stratify patients before HSCT and has been shown to correlate well with immediate transplantation outcomes. More recently reports from the Center for International Blood and Marrow Transplant Research (CIBMTR) and from the Asian sub-continent on results of Human Leukocyte Antigen (HLA) -matched sibling HSCT for thalassemia major confirmed that age at transplantation and liver size are independent predictors of mortality after transplantation. In patients aged <7 years and without hepatomegaly (liver palpated <2 cm below the costal margin), the 5-year probabilities of Overall Survival (OS) and DFS were 98% and 94%, respectively (ref). Morbidity in thalassemia patients (both transplant related and non-transplanted) is attributed to iron overload associated end organ damage. Although there is data on long term outcomes in chronically transfused thalassemia patients, the data on long-term outcomes after HSCT for thalassemia remains limited.
Some patients undergo hematopoietic stem cell transplantation (HSCT) in hopes to cure themselves of Beta-Thalassemia. Other patients manage their Beta-Thalassemia with supportive care including chronic blood transfusions, iron chelation and medications. The purpose of this study is to compare how patients with Beta-Thalassemia are doing after HSCT versus those patients who manage their Beta-Thalassemia with supportive care. This proposal aims to compare long term outcomes in thalassemia patients that have survived a HSCT for thalassemia and compare it with the age and sex matched patients who have remained on transfusion therapy with regular chelation. In order to compare these two subsets of patients, data will be obtained from the Thalassemia Longitudinal Cohort (TLC) study.
- Conditions
- Thalassemia Major
- Medical subject headings
- beta-Thalassemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Beta-Thalassemiall -Transplantation | Not described | |
| Beta-Thalassemia Supportive Care | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Beta-Thalassemia patients and Quality of Life after HSCT versus supportive care therapy
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Dec 2014 (estimated)
- Study startJun 2014
- Primary completion13 Nov 2015
- Study completion30 Nov 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Thalassemia MajorStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 176 participants (actual)
Sponsor and investigators
- Lead sponsor
- Ann & Robert H Lurie Children's Hospital of Chicago
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02307786
- Sponsor's protocol ID
- SCT 0414B
- Status last verified
- Feb 2025
- First submitted
- 19 Sep 2014
- Last updated
- 11 Feb 2025
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Long Term Outcomes in β Thalassemia Major - Comparing Late Outcomes Following Allogeneic Hematopoietic Stem Cell Transplantation and Standard Supportive Care
- ClinicalTrials.gov ID
- NCT02307786
- Acronym / sponsor ID
- SCT 0414B
- Conditions
- Thalassemia Major
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 176 participants (actual)
- Lead sponsor
- Ann & Robert H Lurie Children's Hospital of ChicagoUniversity, hospital or other
- Study start
- Jun 2014
- Primary completion
- 13 Nov 2015 (actual)
- Study completion
- 30 Nov 2016 (actual)
- First posted
- 4 Dec 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Beta thalassemia (β-thalassemia) is the most common genetic disease worldwide. Individuals with thalassemia are born with a defect in hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen to vital organs such as the brain, heart, lungs and kidneys. Thalassemia major is a hereditary anemia characterized by little or no ß-globin production, which results in hemolysis (breakdown or destruction of red blood cells) due to the formation of unstable alpha-globin tetramers and ineffective erythropoiesis which is uniformly fatal in the absence of regular transfusions. Although improvements in conservative treatment have improved the prognosis of thalassemia considerably disease and transfusion related complications in affected patients progress over time, causing severe morbidity and shortened life expectancy. Substantial lifelong health care expenses are also involved, often a financial burden for families and unsustainable in most developing countries.
The hypothesis is that patients who had beta thalassemia who have undergone a hematopoietic stem cell transplant (HSCT) and are >1 year post-HSCT will have less long term comorbidities and a higher quality of life (QOL) as compared to those with beta thalassemia who are maintained on supportive care. In order to assess quality of life, a quality of life questionnaire will be asked. Extraction of data from the patient's medical record will also be used to determine any comorbidities that have occurred after either a HSCT or supportive care therapy.
Detailed description
Hematopoietic stem cell transplantation (HSCT) is considered a suitable alternative to conservative management which includes chronic transfusion therapy, iron chelation (iron overload) and management of complications of transfusion therapy and iron overload. Barriers to HSCT considerations include risks inherent to transplant- early mortality, graft versus host disease (GVHD), graft rejection, infections prior to immune reconstitution, and transplant related organ toxicities. As in supportive care, significant progress has been made in HSCT for thalassemia has been made over the last 3 decades. This has resulted in disease-free survival (DFS) rates exceeding 80% especially in young, low-risk patients with histocompatible (same gene) family donors and more recently even in unrelated donor transplants following streamlining of preparative regimen and improvements in post-HSCT supportive care.
Lucarelli and his colleagues at Pesaro initially pioneered HSCT in thalassemia and described a standard "Pesaro" risk stratification scheme based on liver size by physical examination, fibrosis detected on liver biopsy, and chelation history. This has been used for years to risk stratify patients before HSCT and has been shown to correlate well with immediate transplantation outcomes. More recently reports from the Center for International Blood and Marrow Transplant Research (CIBMTR) and from the Asian sub-continent on results of Human Leukocyte Antigen (HLA) -matched sibling HSCT for thalassemia major confirmed that age at transplantation and liver size are independent predictors of mortality after transplantation. In patients aged <7 years and without hepatomegaly (liver palpated <2 cm below the costal margin), the 5-year probabilities of Overall Survival (OS) and DFS were 98% and 94%, respectively (ref). Morbidity in thalassemia patients (both transplant related and non-transplanted) is attributed to iron overload associated end organ damage. Although there is data on long term outcomes in chronically transfused thalassemia patients, the data on long-term outcomes after HSCT for thalassemia remains limited.
Some patients undergo hematopoietic stem cell transplantation (HSCT) in hopes to cure themselves of Beta-Thalassemia. Other patients manage their Beta-Thalassemia with supportive care including chronic blood transfusions, iron chelation and medications. The purpose of this study is to compare how patients with Beta-Thalassemia are doing after HSCT versus those patients who manage their Beta-Thalassemia with supportive care. This proposal aims to compare long term outcomes in thalassemia patients that have survived a HSCT for thalassemia and compare it with the age and sex matched patients who have remained on transfusion therapy with regular chelation. In order to compare these two subsets of patients, data will be obtained from the Thalassemia Longitudinal Cohort (TLC) study.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Beta-Thalassemiall -Transplantation | – | – |
| Beta-Thalassemia Supportive Care | – | – |
Who may qualify
- Ages
- 0 to 30 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- The study population will be divided into the following groups: * Recipients that are >1 year post allogeneic HSCT from any donor * Patients ('Controls') enrolled on the Thalassemia Longitudinal Cohort study and/or the Thalassemia Clinical Registry Network (TCRN) and continue to receive supportive care
Key inclusion criteria (2 listed)
- Age 0 to 30 years of age
- >1 year post-allogeneic HSCT for Beta-Thalassemia. Any donor (sibling or unrelated) and any donor source (bone marrow, peripheral blood, umbilical cord blood) is considered eligible. Any conditioning regimen is considered acceptable for enrollment
Key exclusion criteria (3 listed)
- <1 year post-allogeneic HSCT for Beta-Thalassemia
- Patient expired prior to 1 year post-HSCT
- Autologous stem cell transplantation for Beta-Thalassemia
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Beta-Thalassemia patients and Quality of Life after HSCT versus supportive care therapy
Time frame: 5 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Feb 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Thalassemia Major, run by Ann & Robert H Lurie Children's Hospital of Chicago at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 11 Feb 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Beta-Thalassemia patients and Quality of Life after HSCT versus supportive care therapy (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Feb 2025.