International Registry of Patients With Alpha Thalassemia (ATM Registry)

International Prospective Registry of Patients With Alpha Thalassemia

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.

Study Overview

• Status: Recruiting
• Conditions: 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.

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

• Study Contact: Name: Billie Lianoglou, LCGC; Phone Number: (415) 476-2461; Email: billie.lianoglou@ucsf.edu

Study Locations

• United States
  • California
    • San Francisco, California, United States, 94143
      • Recruiting
      • University of California San Francisco
      • Principal Investigator: Tippi C MacKenzie, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• 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).

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Survival to birth	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.	6 months
Vineland-3 Adaptive Behavior Scale	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.	10-15 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Gestational age at birth	Gestational age of the child at birth. This is measured in weeks.	6 months
Mechanical ventilation	Duration (if any) of requiring mechanical ventilation after birth. This is measured in days.	1 year
Length of hospitalization	Duration of the child's hospitalization after birth. This is measured in days.	6 months-1 year
Resolution of hydrops	Evaluate whether receiving fetal therapy leads hydrops fetalis to resolve. This is measured by ultrasound findings.	6 months

Collaborators and Investigators

• Sponsor: University of California, San Francisco
• Investigators: Principal Investigator: Tippi C MacKenzie, MD, University of California, San Francisco

Publications and helpful links

General Publications

• Kreger EM, Singer ST, Witt RG, Sweeters N, Lianoglou B, Lal A, Mackenzie TC, Vichinsky E. Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature. Prenat Diagn. 2016 Dec;36(13):1242-1249. doi: 10.1002/pd.4966. Epub 2016 Dec 7.

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2017
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): January 1, 2037

Study Registration Dates

• First Submitted: April 28, 2021
• First Submitted That Met QC Criteria: April 30, 2021
• First Posted (Actual): May 4, 2021

Study Record Updates

• Last Update Posted (Estimated): December 12, 2023
• Last Update Submitted That Met QC Criteria: December 11, 2023
• Last Verified: December 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases; Genetic Diseases, Inborn; Anemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Hemoglobinopathies; Thalassemia; beta-Thalassemia; alpha-Thalassemia
• Other Study ID Numbers: 16-21157-B

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No