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.

Full Title of Study: “International Prospective Registry of Patients With Alpha Thalassemia”

Study Type

  • Study Type: Observational [Patient Registry]
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: January 2027

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.

Clinical Trial Outcome Measures

Primary Measures

  • 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.
  • 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 Measures

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

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University of California, San Francisco
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Tippi C MacKenzie, MD, Principal Investigator, University of California, San Francisco
  • Overall Contact(s)
    • Romobia Hutchinson, MPA, 415-476-9326,


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. Review.

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