ATM Registry: International Registry of Patients With Alpha Thalassemia
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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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:
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Identify patient outcomes of therapies.
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Improve clinical management of patients with ATM.
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Improve medical decision making.
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Improve quality of care.
Study Design
Outcome Measures
Primary Outcome Measures
- 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
- 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.
Eligibility Criteria
Criteria
Inclusion Criteria:
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diagnosis of alpha thalassemia (prenatal or postnatal) with genotype consistent with ATM or BHFS phenotype
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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
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | University of California San Francisco | San Francisco | California | United States | 94143 |
Sponsors and Collaborators
- University of California, San Francisco
Investigators
- Principal Investigator: Tippi C MacKenzie, MD, University of California, San Francisco
Study Documents (Full-Text)
More Information
Publications
- 16-21157-B