International Registry of Patients With Alpha Thalassemia

Recruiting

• Conditions: Alpha Thalassemia Major; Alpha-Thalassemia; Alpha Thalassemia Minor

• Registration Number: NCT04872179
• Lead Sponsor: 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.

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.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2017-01
• Study First Submitted: 2021-04-28
• Study First Submitted QC: 2021-04-30
• Study First Posted: 2021-05-04
• Status Verified: 2023-12
• Last Update Submitted: 2023-12-11
• Last Update Posted: 2023-12-12
• Primary Completion: 2027-01
• Study Completion: 2037-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 500

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

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Exclusion Criteria

• none

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
Gestational age at birth	6 months	Gestational age of the child at birth. This is measured in weeks.
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.
Mechanical ventilation	1 year	Duration (if any) of requiring mechanical ventilation after birth. This is measured in days.

Trial Locations

Locations (1)

University of California San Francisco; 🇺🇸 San Francisco, California, United States