Try the modernized beta website. Learn more about the modernization effort.
Working… Menu

International Registry of Patients With Alpha Thalassemia (ATM Registry)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04872179
Recruitment Status : Recruiting
First Posted : May 4, 2021
Last Update Posted : October 4, 2021
Information provided by (Responsible Party):
University of California, San Francisco

Brief Summary:
This is an international prospective registry of patients with Alpha thalassemia to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with Alpha thalassemia.

Condition or disease
Alpha-Thalassemia Alpha Thalassemia Major Alpha Thalassemia Minor

Detailed Description:

The aim of this registry is to prospectively and retrospectively collect data on patients who are diagnosed with alpha thalassemia major and other alpha thalassemia mutations. Data collected will be used to:

  1. Identify patient outcomes of therapies.
  2. Improve clinical management of patients with ATM.
  3. Improve medical decision making.
  4. Improve quality of care.

Layout table for study information
Study Type : Observational [Patient Registry]
Estimated Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 30 Years
Official Title: International Prospective Registry of Patients With Alpha Thalassemia
Actual Study Start Date : January 2017
Estimated Primary Completion Date : January 2027
Estimated Study Completion Date : January 2037

Primary Outcome Measures :
  1. Survival to birth [ Time Frame: 6 months ]
    Number of fetuses diagnosed with alpha thalassemia who survive to birth, compared to number of fetuses diagnosed with alpha thalassemia who have fetal demise or are terminated in utero. This is measured in number of fetuses alive at birth divided by number of all fetuses.

  2. Vineland-3 Adaptive Behavior Scale [ Time Frame: 10-15 years ]
    Results of neurodevelopmental testing using the Vineland Adaptive Behavior Scale version 3. The Vineland-3 scoring system is based on scores for three specific adaptive behavior domains: Communication, Daily Living Skills, and Socialization. The domain scores are expressed as standard scores with a mean of 100 and standard deviation of 15.

Secondary Outcome Measures :
  1. Gestational age at birth [ Time Frame: 6 months ]
    Gestational age of the child at birth. This is measured in weeks.

  2. Mechanical ventilation [ Time Frame: 1 year ]
    Duration (if any) of requiring mechanical ventilation after birth. This is measured in days.

  3. Length of hospitalization [ Time Frame: 6 months-1 year ]
    Duration of the child's hospitalization after birth. This is measured in days.

  4. Resolution of hydrops [ Time Frame: 6 months ]
    Evaluate whether receiving fetal therapy leads hydrops fetalis to resolve. This is measured by ultrasound findings.

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients will be either self-enrolled, or enrolled through their prenatal provider (obstetrician, genetic counselor) or postnatal provider (hematologist, pediatrician).

Inclusion Criteria:

  • diagnosis of alpha thalassemia (prenatal or postnatal) with genotype consistent with ATM or BHFS phenotype
  • referred to the University of California, San Francisco Fetal Treatment Center for fetal diagnosis, management and/or evaluation for the ongoing in utero stem cell transplantation clinical trial

Exclusion Criteria:

- none

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04872179

Layout table for location contacts
Contact: Billie Lianoglou, LCGC (415) 476-2461

Layout table for location information
United States, California
University of California San Francisco Recruiting
San Francisco, California, United States, 94143
Principal Investigator: Tippi C MacKenzie, MD         
Sponsors and Collaborators
University of California, San Francisco
Layout table for investigator information
Principal Investigator: Tippi C MacKenzie, MD University of California, San Francisco
  Study Documents (Full-Text)

Documents provided by University of California, San Francisco:
Informed Consent Form  [PDF] June 8, 2020

Layout table for additonal information
Responsible Party: University of California, San Francisco Identifier: NCT04872179    
Other Study ID Numbers: 16-21157-B
First Posted: May 4, 2021    Key Record Dates
Last Update Posted: October 4, 2021
Last Verified: September 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
Layout table for MeSH terms
Anemia, Hemolytic, Congenital
Anemia, Hemolytic
Hematologic Diseases
Genetic Diseases, Inborn