Evaluating People With Thalassemia: The Thalassemia Longitudinal Cohort (TLC) Study

This study has been completed.
Sponsor:
Collaborators:
Thalassemia Clinical Research Network
Information provided by:
New England Research Institutes
ClinicalTrials.gov Identifier:
NCT00661804
First received: April 16, 2008
Last updated: November 9, 2011
Last verified: June 2011
  Purpose

Thalassemias are inherited blood disorders that can cause anemia and other health problems. The goal of this study is to collect information on complications of the disease among people who currently have or previously had thalassemia.


Condition
Thalassemia

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: A Longitudinal Cohort Study of Patients With Thalassemia in the Thalassemia Clinical Research Network

Resource links provided by NLM:


Further study details as provided by New England Research Institutes:

Primary Outcome Measures:
  • The prevalence and incidence of complications specific to thalassemia and its treatment among participants [ Time Frame: Measured throughout the duration of the study ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Fertility and pregnancy outcomes; causes of mortality and changes in mortality risk; genotypic and phenotypic variation; and body iron burden [ Time Frame: Measured throughout the duration of the study ] [ Designated as safety issue: No ]
  • Relationships among adherence, quality of life, and complications of thalassemia [ Time Frame: Measured throughout the duration of the study ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

DNA and frozen plasma genetic biorepository


Enrollment: 416
Study Start Date: May 2007
Study Completion Date: June 2011
Primary Completion Date: December 2010 (Final data collection date for primary outcome measure)
Groups/Cohorts
Thalassemia cohort

Thalassemia as documented by clinical diagnosis, including:

thalassemia (intermedia or major); HbH disease; HbH with non-deletional mutations, e.g., HbH Constant Spring E beta-thalassemia; Homozygous alpha-thalassemia (i.e., 4-gene alpha deletion or equivalent null alpha mutation); Other thalassemic conditions not explicitly excluded; Thalassemia intermedia due to heterozygous beta mutation with alpha-gene excess.

Successful SCT cohort
Individuals who have received a successful hematopoietic SCT, defined as engraftment of all three cell lines and transfusion independence by 100 days post-transplant, for any of the disorders listed above;Monitored for end-organ injury related to thalassemia prior to their successful SCT;Participants who were enrolled in TCRN Registry or had a successful SCT after 01 Jan 2002.

Detailed Description:

Thalassemias are inherited blood disorders that are characterized by low levels of hemoglobin and healthy red blood cells. The two major types of thalassemia are alpha thalassemia and beta thalassemia, and there are several forms of each type. Symptoms can range from mild to severe and may include anemia, delayed growth, bone problems, and an enlarged spleen. People with mild forms of the disease may not need any treatment, while people with moderate to severe thalassemia may be treated with blood transfusions to refresh the healthy red blood cell supply, iron chelation therapy to remove excess iron from the body, and folic acid supplements to help build healthy red blood cells. Stem cell transplants can cure the disease, but they are not widely used because of the difficulty of finding donors. This study will establish a database of people with thalassemia and people who used to have thalassemia to examine the prevalence and incidence of complications related to the disease. Participants' DNA will be analyzed and plasma will be collected for use in future studies. Participants in this study may also be asked if they are interested in enrolling in other Thalassemia Clinical Research Network studies.

This study has enrolled people with thalassemia or people whose thalassemia was cured after undergoing a stem cell transplant. At a baseline study visit, participants with thalassemia will undergo a medical history interview; a medical record review; blood collection; and questionnaires on quality of life, nutritional status, and medication adherence. Follow-up visits will occur once a year for at least 3 years or for the duration of the study and will include repeat baseline testing. Participants who have undergone a successful stem cell transplant will attend only one study visit that will include a medical history interview, a medical record review, and quality of life questionnaires.

  Eligibility

Ages Eligible for Study:   5 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

All patients with thalassemia, as documented by clinical diagnosis, seen at sites funded by the Thalassemia Clinical Research Network (TCRN) and their satellites.

Criteria

Inclusion Criteria for People with Thalassemia:

  • Thalassemia, as documented by clinical diagnosis, including the following types:

    1. Beta-thalassemia (intermedia or major)
    2. Hemoglobin H (HbH) disease
    3. HbH with non-deletional mutations (e.g., HbH Constant Spring)
    4. E-beta-thalassemia
    5. Homozygous alpha-thalassemia (i.e., 4-gene alpha deletion or equivalent null alpha mutation)
    6. Other thalassemic conditions not explicitly excluded
    7. Thalassemia intermedia due to heterozygous beta mutation with alpha-gene excess
  • Requires at least annual monitoring for end-organ injury related to thalassemia, including all clinical measures specified in this study

Inclusion Criteria for People who Have Received a Successful Stem Cell Transplant:

  • Received a successful hematopoietic stem cell transplant, defined as engraftment of all three cell lines and transfusion independence by 100 days post-transplant, for any of the thalassemia disorders listed above
  • Monitored for end-organ injury related to thalassemia before their successful stem cell transplant, including all clinical measures specified in this study

Exclusion Criteria for People with Thalassemia:

  • Has any of the following mild or mixed diagnoses:

    1. Thalassemia trait (i.e., single recessive beta-gene mutation, two-gene alpha-gene mutation)
    2. Thalassemia/Hb S, C, or D compound heterozygotes
    3. HbH with steady state hemoglobin above 9.0 g/dL and no history of significant thalassemia complications (e.g., endocrinopathies, cardiac dysfunction, growth impairment, pulmonary hypertension)
  • Unable or unwilling to be followed annually
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00661804

Locations
United States, California
Children's Hospital of Los Angeles
Los Angeles, California, United States, 90027
Children's Hospital of Oakland
Oakland, California, United States, 94609
Stanford Hospital
Stanford, California, United States, 94305
United States, Georgia
Children's Healthcare of Atlanta
Atlanta, Georgia, United States, 30342
United States, Illinois
Children's Memorial Hospital Chicago
Chicago, Illinois, United States, 60614
United States, Massachusetts
Children's Hospital Boston
Boston, Massachusetts, United States, 02115
United States, New York
Weill Medical College of Cornell University
New York, New York, United States, 10021
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
United States, Texas
Southwestern Medical Center at Dallas
Dallas, Texas, United States, 75390
Baylor College of Medicine
Houston, Texas, United States, 77030
Canada, British Columbia
British Columbia Children's Hospital
Vancouver, British Columbia, Canada, V6H 3V4
Canada, Ontario
Toronto General Hospital
Toronto, Ontario, Canada, M5G 2C4
Toronto Sick Kids
Toronto, Ontario, Canada, M5G 1X8
United Kingdom
Royal Free and University College London Medical School
London, England, United Kingdom, WC1E 6BT
Sponsors and Collaborators
New England Research Institutes
Thalassemia Clinical Research Network
Investigators
Study Chair: Ellis Neufeld, MD, PhD Children's Hospital Boston
Study Chair: Janet Kwiatkowski, MD Children's Hospital of Philadelphia
  More Information

No publications provided by New England Research Institutes

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: National Heart, Lung and Blood Institute, National Institutes of Health
ClinicalTrials.gov Identifier: NCT00661804     History of Changes
Other Study ID Numbers: 568, U01HL065238, U01 HL065238
Study First Received: April 16, 2008
Last Updated: November 9, 2011
Health Authority: United States: Federal Government

Additional relevant MeSH terms:
Thalassemia
Anemia, Hemolytic, Congenital
Anemia, Hemolytic
Anemia
Hematologic Diseases
Hemoglobinopathies
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on September 16, 2014