International Registry of Patients With Alpha Thalassemia

International Prospective Registry of Patients With Alpha Thalassemia

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04872179

Acronym

ATM Registry

Enrollment

500

Registered

2021-05-04

Start date

2017-01-01

Completion date

2037-01-01

Last updated

2026-09-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Alpha-Thalassemia, Alpha Thalassemia Major, Alpha Thalassemia Minor

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.

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Survival to birth	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.
Vineland-3 Adaptive Behavior Scale	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

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

Countries

United States

Contacts

CONTACTBillie Lianoglou, LCGC

billie.lianoglou@ucsf.edu(415) 476-2461

PRINCIPAL_INVESTIGATORTippi C MacKenzie, MD

University of California, San Francisco

Outcome results