Clinical trial NCT00661804: Evaluating People With Thalassemia: The Thalassemia Longitudinal Cohort (TLC) Study
Official title: A Longitudinal Cohort Study of Patients With Thalassemia in the Thalassemia Clinical Research Network
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Thalassemia
Lead sponsor: Carelon Research
Sponsor class: OTHER
Collaborators: name: National Heart, Lung, and Blood Institute (NHLBI)
name: Thalassemia Clinical Research Network
First posted: 2008-04-18
Enrollment: 416
Sex: ALL
Minimum age (years): 5
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Time perspective: PROSPECTIVE
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.

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.

Eligibility 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

Primary outcomes:
measure: The prevalence and incidence of complications specific to thalassemia and its treatment among participants
timeFrame: Measured throughout the duration of the study
Secondary outcomes:
measure: Fertility and pregnancy outcomes; causes of mortality and changes in mortality risk; genotypic and phenotypic variation; and body iron burden
timeFrame: Measured throughout the duration of the study
measure: Relationships among adherence, quality of life, and complications of thalassemia
timeFrame: Measured throughout the duration of the study
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Children's Hospital of Los Angeles
state: California
city: Oakland
country: United States
facility: Children's Hospital of Oakland
state: California
city: Stanford
country: United States
facility: Stanford Hospital
state: California
city: Atlanta
country: United States
facility: Children's Healthcare of Atlanta
state: Georgia
city: Chicago
country: United States
facility: Children's Memorial Hospital Chicago
state: Illinois
city: Boston
country: United States
facility: Children's Hospital Boston
state: Massachusetts
city: New York
country: United States
facility: Weill Medical College of Cornell University
state: New York
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Dallas
country: United States
facility: Southwestern Medical Center at Dallas
state: Texas
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: Vancouver
country: Canada
facility: British Columbia Children's Hospital
state: British Columbia
city: Toronto
country: Canada
facility: Toronto Sick Kids
state: Ontario
city: Toronto
country: Canada
facility: Toronto General Hospital
state: Ontario
city: London
country: United Kingdom
facility: Royal Free and University College London Medical School
state: England
Study officials:
affiliation: Boston Children's Hospital
name: Ellis Neufeld, MD, PhD
role: STUDY_CHAIR
affiliation: Children's Hospital of Philadelphia
name: Janet Kwiatkowski, MD
role: STUDY_CHAIR
References:
citation: 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.
citation: 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.