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

NCT ID: NCT00661804

Last Updated: 2011-11-11

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 416 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2007-05-31
• Study Completion Date: 2011-06-30

Brief Summary

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.

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.

Conditions

Thalassemia

Study Design

• Study Time Perspective: PROSPECTIVE

Study Groups

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.

No interventions assigned to this group

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.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• 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

• 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

• 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

• Minimum Eligible Age: 5 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role: collaborator

Thalassemia Clinical Research Network

NETWORK

Sponsor Role: collaborator

Carelon Research

OTHER

Sponsor Role: lead

Responsible Party

National Institutes of Health

Principal Investigators

Ellis Neufeld, MD, PhD

Role: STUDY_CHAIR

Boston Children's Hospital

Janet Kwiatkowski, MD

Role: STUDY_CHAIR

Children's Hospital of Philadelphia

Locations

Children's Hospital of Los Angeles

Los Angeles, California, United States

Children's Hospital of Oakland

Oakland, California, United States

Stanford Hospital

Stanford, California, United States

Children's Healthcare of Atlanta

Atlanta, Georgia, United States

Children's Memorial Hospital Chicago

Chicago, Illinois, United States

Children's Hospital Boston

Boston, Massachusetts, United States

Weill Medical College of Cornell University

New York, New York, United States

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Southwestern Medical Center at Dallas

Dallas, Texas, United States

Baylor College of Medicine

Houston, Texas, United States

British Columbia Children's Hospital

Vancouver, British Columbia, Canada

Toronto Sick Kids

Toronto, Ontario, Canada

Toronto General Hospital

Toronto, Ontario, Canada

Royal Free and University College London Medical School

London, England, United Kingdom

Countries

United States; Canada; United Kingdom

References

Trachtenberg FL, Mednick L, Kwiatkowski JL, Neufeld EJ, Haines D, Pakbaz Z, Thompson AA, Quinn CT, Grady R, Sobota A, Olivieri N, Horne R, Yamashita R; Thalassemia Clinical Research Network. Beliefs about chelation among thalassemia patients. Health Qual Life Outcomes. 2012 Dec 7;10:148. doi: 10.1186/1477-7525-10-148.

Reference Type: DERIVED

PMID: 23216870 (View on PubMed)

Morris CR, Kim HY, Trachtenberg F, Wood J, Quinn CT, Sweeters N, Kwiatkowski JL, Thompson AA, Giardina PJ, Boudreaux J, Olivieri NF, Porter JB, Neufeld EJ, Vichinsky EP; Thalassemia Clinical Research Network. Risk factors and mortality associated with an elevated tricuspid regurgitant jet velocity measured by Doppler-echocardiography in thalassemia: a Thalassemia Clinical Research Network report. Blood. 2011 Oct 6;118(14):3794-802. doi: 10.1182/blood-2010-11-319152. Epub 2011 Jul 19.

Reference Type: DERIVED

PMID: 21772051 (View on PubMed)

Other Identifiers

U01HL065238

Identifier Type: NIH

Identifier Source: secondary_id

View Link

568

Identifier Type: -

Identifier Source: org_study_id