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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:
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| Measure | Description | Time Frame |
|---|---|---|
| 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. | 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. | 10-15 years |
| Measure | Description | Time Frame |
|---|---|---|
| Gestational age at birth | Gestational age of the child at birth. This is measured in weeks. | 6 months |
| Mechanical ventilation | Duration (if any) of requiring mechanical ventilation after birth. This is measured in days. |
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Inclusion Criteria:
Exclusion Criteria:
- none
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Patients will be either self-enrolled, or enrolled through their prenatal provider (obstetrician, genetic counselor) or postnatal provider (hematologist, pediatrician).
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Billie Lianoglou, LCGC | Contact | (415) 476-2461 | billie.lianoglou@ucsf.edu |
| Name | Affiliation | Role |
|---|---|---|
| Tippi C MacKenzie, MD | University of California, San Francisco | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California San Francisco | Recruiting | San Francisco | California | 94143 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 27862048 | Background | 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. | |
| 36306387 | Derived |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| ICF | No | No | Yes | Informed Consent Form | Jun 8, 2020 | Apr 26, 2021 | ICF_000.pdf |
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| ID | Term |
|---|---|
| D017085 | alpha-Thalassemia |
| ID | Term |
|---|---|
| D013789 | Thalassemia |
| D000745 | Anemia, Hemolytic, Congenital |
| D000743 | Anemia, Hemolytic |
| D000740 | Anemia |
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| 1 year |
| Length of hospitalization | Duration of the child's hospitalization after birth. This is measured in days. | 6 months-1 year |
| Resolution of hydrops | Evaluate whether receiving fetal therapy leads hydrops fetalis to resolve. This is measured by ultrasound findings. | 6 months |
| Schwab ME, Lianoglou BR, Gano D, Gonzalez Velez J, Allen IE, Arvon R, Baschat A, Bianchi DW, Bitanga M, Bourguignon A, Brown RN, Chen B, Chien M, Davis-Nelson S, de Laat MWM, Ekwattanakit S, Gollin Y, Hirata G, Jelin A, Jolley J, Meyer P, Miller J, Norton ME, Ogasawara KK, Panchalee T, Schindewolf E, Shaw SW, Stumbaugh T, Thompson AA, Towner D, Tsai PS, Viprakasit V, Volanakis E, Zhang L, Vichinsky E, MacKenzie TC. The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry. Blood Adv. 2023 Jan 24;7(2):269-279. doi: 10.1182/bloodadvances.2022007823. |
| D006402 |
| Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D006453 | Hemoglobinopathies |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |