International Registry of Patients With Alpha Thalassemia

University of California, San Francisco500 enrolled

Overview

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.

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

500

Conditions

Alpha-Thalassemia Alpha Thalassemia Major Alpha Thalassemia Minor

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (1)

University of California San Francisco

San Francisco, California, United States

RECRUITING

Outcomes

Primary Outcomes

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.

Time frame: 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.

Time frame: 10-15 years

Secondary Outcomes

Gestational age at birth

Gestational age of the child at birth. This is measured in weeks.

Time frame: 6 months

Mechanical ventilation

Duration (if any) of requiring mechanical ventilation after birth. This is measured in days.

Time frame: 1 year

Length of hospitalization

Duration of the child's hospitalization after birth. This is measured in days.

Time frame: 6 months-1 year

Resolution of hydrops

Evaluate whether receiving fetal therapy leads hydrops fetalis to resolve. This is measured by ultrasound findings.

Time frame: 6 months

Central Contacts

Billie Lianoglou, LCGC

CONTACT

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

Data from ClinicalTrials.gov

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