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
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