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NCT Number: NCT04872179

International 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.

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Key information

Conditions

Alpha-Thalassemia Alpha Thalassemia Major Alpha Thalassemia Minor Anemia Anemia, Hemolytic Anemia, Hemolytic, Congenital Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemoglobinopathies Thalassemia

Sex eligibility

All sexes

Study type

Observational

Primary location

University of California San Francisco

San Francisco, California, 94143, United States

Location status: Recruiting

Location contact

Tippi C MacKenzie, MD

PRINCIPAL_INVESTIGATOR

About this study

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:

  • Identify patient outcomes of therapies.
  • Improve clinical management of patients with ATM.
  • Improve medical decision making.
  • Improve quality of care.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  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 outcomes

  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.

Study contacts

Contact information is provided by the study sponsor or research team.

Billie Lianoglou, LCGC

CONTACT

[email protected]

(415) 476-2461

Sponsors and collaborators

Lead sponsor

University of California, San Francisco

Other

Registry information

Official study title

International Prospective Registry of Patients With Alpha Thalassemia

Acronym: ATM Registry

Important dates

Study start
2017
Primary completion
2027
Study completion
2037
First posted
May 4, 2021
Registry last updated
Apr 4, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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