Alpha-ThalassemiaATM RegistryNCT04872179
International Registry of Patients With Alpha Thalassemia
An observational study of Alpha-Thalassemia and Alpha Thalassemia Major, run by University of California, San Francisco at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Alpha-Thalassemia, Alpha Thalassemia Major, Alpha Thalassemia Minor
- How many people
- 500 participants
- Where
- 1 siteUnited States
- Study dates
- Jan 2017to Jan 2037
- How long will I take part?
- 30 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients will be either self-enrolled, or enrolled through their prenatal provider (obstetrician, genetic counselor) or postnatal provider (hematologist, pediatrician).
Who may be able to join
- 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
Who cannot join
- none
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of California San Francisco
San Francisco, California, 94143
Tippi C MacKenzie, MD
About this study
Official title: International Prospective 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.
Read the 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:
- Identify patient outcomes of therapies.
- Improve clinical management of patients with ATM.
- Improve medical decision making.
- Improve quality of care.
- Medical subject headings
- alpha-Thalassemia
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 10-15 years
Secondary outcomes (4)
Gestational age at birth
Gestational age of the child at birth. This is measured in weeks.
Measured: 6 months
Mechanical ventilation
Duration (if any) of requiring mechanical ventilation after birth. This is measured in days.
Measured: 1 year
Length of hospitalization
Duration of the child's hospitalization after birth. This is measured in days.
Measured: 6 months-1 year
Resolution of hydrops
Evaluate whether receiving fetal therapy leads hydrops fetalis to resolve. This is measured by ultrasound findings.
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 May 2021
- Study startJan 2017
- Primary completionJan 2027 (estimated)
- Study completionJan 2037 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Alpha-ThalassemiaStudies of the same condition, open and under way.
- More trials run by University of California, San FranciscoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
- Target duration
- 30 Years
Sponsor and investigators
- Lead sponsor
- University of California, San Francisco
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Tippi C MacKenzie, MD, Principal investigator, University of California, San Francisco
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04872179
- Sponsor's protocol ID
- 16-21157-B
- Acronym
- ATM Registry
- Status last verified
- Aug 2026
- First submitted
- 28 Apr 2021
- Last updated
- 2 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 27862048Schwab 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.
PubMed 36306387
Study at a glance
From the registry record, last updated by the sponsor on 2 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- International Prospective Registry of Patients With Alpha Thalassemia
- ClinicalTrials.gov ID
- NCT04872179
- Acronym / sponsor ID
- ATM Registry / 16-21157-B
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- University of California, San FranciscoUniversity, hospital or other
- Study start
- Jan 2017 (actual)
- Primary completion
- Jan 2027 (estimated)
- Study completion
- Jan 2037 (estimated)
- First posted
- 4 May 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- Identify patient outcomes of therapies.
- Improve clinical management of patients with ATM.
- Improve medical decision making.
- Improve quality of care.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 30 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients will be either self-enrolled, or enrolled through their prenatal provider (obstetrician, genetic counselor) or postnatal provider (hematologist, pediatrician).
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
4 secondary outcomes
Gestational age at birth
Time frame: 6 months
Mechanical ventilation
Time frame: 1 year
Length of hospitalization
Time frame: 6 months-1 year
Resolution of hydrops
Time frame: 6 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Sep 2026.
- Background: PubMed 27862048Kreger 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.
- Derived from this study: PubMed 36306387Schwab 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Tippi C MacKenzie, MD principal investigator
University of California, San Francisco
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Alpha-Thalassemia and Alpha Thalassemia Major, run by University of California, San Francisco at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 2 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Billie Lianoglou, LCGC ((415) 476-2461, billie.lianoglou@ucsf.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Survival to birth (time frame: 6 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04872179, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Sep 2026.