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

• Sponsor: HealthCore-NERI (Other)
• Overall Status: Completed
• CT.gov ID: NCT00661804
• Collaborator: National Heart, Lung, and Blood Institute (NHLBI) (NIH), Thalassemia Clinical Research Network (Other)
• Enrollment: 416
• Locations: 14
• Duration (Months): 49
• Patients Per Site: 29.7
• Patients Per Site Per Month: 0.6

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
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.

Study Design

• Study Type: Observational
• Actual Enrollment: 416 participants
• Time Perspective: Prospective
• Official Title: A Longitudinal Cohort Study of Patients With Thalassemia in the Thalassemia Clinical Research Network
• Study Start Date: May 1, 2007
• Actual Primary Completion Date: Dec 1, 2010
• Actual Study Completion Date: Jun 1, 2011

Arms and Interventions

Arm	Intervention/Treatment
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.

Outcome Measures

Primary Outcome Measures

1. The prevalence and incidence of complications specific to thalassemia and its treatment among participants [Measured throughout the duration of the study]

Secondary Outcome Measures

1. 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]

2. Relationships among adherence, quality of life, and complications of thalassemia [Measured throughout the duration of the study]

Eligibility Criteria

Criteria

• Ages Eligible for Study: 5 Years and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: Yes

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

Locations

	Site	City	State	Country	Postal Code
1	Children's Hospital of Los Angeles	Los Angeles	California	United States	90027
2	Children's Hospital of Oakland	Oakland	California	United States	94609
3	Stanford Hospital	Stanford	California	United States	94305
4	Children's Healthcare of Atlanta	Atlanta	Georgia	United States	30342
5	Children's Memorial Hospital Chicago	Chicago	Illinois	United States	60614
6	Children's Hospital Boston	Boston	Massachusetts	United States	02115
7	Weill Medical College of Cornell University	New York	New York	United States	10021
8	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	United States	19104
9	Southwestern Medical Center at Dallas	Dallas	Texas	United States	75390
10	Baylor College of Medicine	Houston	Texas	United States	77030
11	British Columbia Children's Hospital	Vancouver	British Columbia	Canada	V6H 3V4
12	Toronto Sick Kids	Toronto	Ontario	Canada	M5G 1X8
13	Toronto General Hospital	Toronto	Ontario	Canada	M5G 2C4
14	Royal Free and University College London Medical School	London	England	United Kingdom	WC1E 6BT

Sponsors and Collaborators

• HealthCore-NERI
• National Heart, Lung, and Blood Institute (NHLBI)
• Thalassemia Clinical Research Network

Investigators

• Study Chair: Ellis Neufeld, MD, PhD, Boston Children's Hospital
• Study Chair: Janet Kwiatkowski, MD, Children's Hospital of Philadelphia

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• ClinicalTrials.gov Identifier: NCT00661804
• Other Study ID Numbers: 568; U01HL065238
• First Posted: Apr 18, 2008
• Last Update Posted: Nov 11, 2011
• Last Verified: Jun 1, 2011

• Additional relevant MeSH terms: Thalassemia

Study Results

No Results Posted as of Nov 11, 2011