International Registry of Patients With Alpha Thalassemia

NCT ID: NCT04872179

Last Updated: 2025-04-04

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 500 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2017-01-31
• Study Completion Date: 2037-01-31

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.

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.

Conditions

Alpha-Thalassemia; Alpha Thalassemia Major; Alpha Thalassemia Minor

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

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

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University of California, San Francisco

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Tippi C MacKenzie, MD

Role: PRINCIPAL_INVESTIGATOR

University of California, San Francisco

Locations

University of California San Francisco

San Francisco, California, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Billie Lianoglou, LCGC

Role: CONTACT

billie.lianoglou@ucsf.edu

(415) 476-2461

References

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.

Reference Type: BACKGROUND

PMID: 27862048 (View on PubMed)

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.

Reference Type: DERIVED

PMID: 36306387 (View on PubMed)

Provided Documents

Document Type: Informed Consent Form

View Document

Other Identifiers

16-21157-B

Identifier Type: -

Identifier Source: org_study_id