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

Thalassemia Clinical Trial

Official title:

A Longitudinal Cohort Study of Patients With Thalassemia in the Thalassemia Clinical Research Network

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00661804
• Other study ID #: 568
• Secondary ID: U01HL065238
• Status: Completed
• Phase: N/A
• First received: April 16, 2008
• Last updated: November 9, 2011
• Start date: May 2007
• Est. completion date: June 2011

Study information

• Verified date: June 2011
• Source: New England Research Institutes
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 416
• Est. completion date: June 2011
• Est. primary completion date: December 2010
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 5 Years and older

Eligibility

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

Study Design

Time Perspective: Prospective

Related Conditions & MeSH terms

• Thalassemia

Locations

Country	Name	City	State
Canada	Toronto General Hospital	Toronto	Ontario
Canada	Toronto Sick Kids	Toronto	Ontario
Canada	British Columbia Children's Hospital	Vancouver	British Columbia
United Kingdom	Royal Free and University College London Medical School	London	England
United States	Children's Healthcare of Atlanta	Atlanta	Georgia
United States	Children's Hospital Boston	Boston	Massachusetts
United States	Children's Memorial Hospital Chicago	Chicago	Illinois
United States	Southwestern Medical Center at Dallas	Dallas	Texas
United States	Baylor College of Medicine	Houston	Texas
United States	Children's Hospital of Los Angeles	Los Angeles	California
United States	Weill Medical College of Cornell University	New York	New York
United States	Children's Hospital of Oakland	Oakland	California
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Stanford Hospital	Stanford	California

Sponsors (3)

Lead Sponsor	Collaborator
New England Research Institutes	National Heart, Lung, and Blood Institute (NHLBI), Thalassemia Clinical Research Network

Countries where clinical trial is conducted

United States,  Canada,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The prevalence and incidence of complications specific to thalassemia and its treatment among participants		Measured throughout the duration of the study	No
Secondary	Fertility and pregnancy outcomes; causes of mortality and changes in mortality risk; genotypic and phenotypic variation; and body iron burden		Measured throughout the duration of the study	No
Secondary	Relationships among adherence, quality of life, and complications of thalassemia		Measured throughout the duration of the study	No