Beta ThalassemiaNCT04918056
Genetic Variants Affecting the Clinical Severity of Beta Thalassemia
An observational study of Beta Thalassemia, run by Nanfang Hospital, Southern Medical University at 1 site in China.
Trial summary
β-thalassemia is one of the most common single gene disorder in Southern China. The phenotypic severity of beta thalassemia widely varies from mild to severe forms. Patients with the same beta thalassemia genotype show wide phenotypic variability that ranges from moderate to severe disease due to various genetic… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Beta Thalassemia
- What is being tested?
- Hematological Analysis and Genetical Analysis
- How many people
- 1,300 participants
- Where
- 1 siteChina
- Study dates
- 1 Jan 2017to 25 Jun 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
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: beta thalassemia patients from Southern China.
Who may be able to join
- Diagnosed with β-thalassemia
Who cannot join
- Iron Deficiency Anemia
Trial locations and contacts
1 site in 1 country.
China1 site, 1 recruiting
- Recruiting
Southern Medical University
Guangzhou, Guangdong, 510515
Xiangmin Xu, Prof. Dr., (20) 61648293 ext. 86, xixm@smu.edu.cn
About this study
Official title: Screening and Identification of Genetic Modifiers Which Affecting the Phenotype Severity of Beta Thalassemia Patients
β-thalassemia is one of the most common single gene disorder in Southern China. The phenotypic severity of beta thalassemia widely varies from mild to severe forms. Patients with the same beta thalassemia genotype show wide phenotypic variability that ranges from moderate to severe disease due to various genetic modifiers of disease severity. The aim of this study is to looking for the genetic factors which could affect the severity of beta thalassemia.
Read the detailed description
The understanding of the genotype-phenotype correlation is a very important issue to the precise diagnosis of beta thalassemia. However, the genotype-phenotype correlation of Beta thalassemia is so complex that the pathogenesis of some patients remains uncertain and cannot be explained by known mechanisms. The study of the role of the genetic variants in modulating beta thalassemia phenotype could brought us considerable novel and interesting information in this area. We will collecting more than 1000 beta thalassemia patients , analyzing their clinical data and genome data, and association study will be conducted to screen the positive genetic variants which exert a significant effect on both the HbF levels and onset ages of beta thalassemia patients.
- Conditions
- Beta Thalassemia
- Being tested
- Hematological Analysis and Genetical Analysis
- Keywords
- beta thalassemia, Hb F, Onset age, Genetic Modifier
- Medical subject headings
- beta-Thalassemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Hematological Analysis and Genetical AnalysisDiagnostic test
Hematological Analysis: Hematological parameters were determined with an automated hematology analyzer (Sysmex, Japan), and hemoglobin analysis was performed with either high-performance liquid chromatography (Bio-Rad, USA) or capillary electrophoresis (Sebia, France and Helena, USA).
Genetical Analysis: Genomic DNA was extracted from peripheral blood (PB) by using a standard phenol/chloroform method. The genotypes of samples are analyzed by NGS assay.
| Study group | Role | What they receive |
|---|---|---|
| beta thalassemia patients | Not described Receives: Diagnostic Test: Hematological Analysis and Genetical Analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genetic variants which could influence the phenotype of beta thalassemia
Identified a group of single-nucleotide polymorphisms (SNPs) that contribute to β-thalassemia
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jun 2021
- Study start1 Jan 2017
- Primary completion11 Jan 2022 (estimated)
- Study completion25 Jun 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Beta ThalassemiaStudies of the same condition, open and under way.
- More trials run by Nanfang Hospital, Southern Medical UniversityThe 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
- Retrospective
- Enrolment
- 1,300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Nanfang Hospital, Southern Medical University
- Sponsor type
- University, hospital or other
- Collaborators
- 303rd Hospital of the People's Liberation Army, Liuzhou Maternity and Child Healthcare Hospital, Zhuhai Municipal Maternal and Child Healthcare Hospital, Dong Guan Maternal and Child Health Hospital
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04918056
- Sponsor's protocol ID
- PDD-Beta thalassemia
- Status last verified
- May 2021
- First submitted
- 3 Jun 2021
- Last updated
- 11 Jun 2021
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Jun 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening and Identification of Genetic Modifiers Which Affecting the Phenotype Severity of Beta Thalassemia Patients
- ClinicalTrials.gov ID
- NCT04918056
- Acronym / sponsor ID
- PDD-Beta thalassemia
- Conditions
- Beta Thalassemia
- Keywords
- beta thalassemia, Hb F, Onset age, Genetic Modifier
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,300 participants (estimated)
- Lead sponsor
- Nanfang Hospital, Southern Medical UniversityUniversity, hospital or other
- Collaborators
- 303rd Hospital of the People's Liberation Army, Liuzhou Maternity and Child Healthcare Hospital, Zhuhai Municipal Maternal and Child Healthcare Hospital, Dong Guan Maternal and Child Health Hospital
- Study start
- 1 Jan 2017 (actual)
- Primary completion
- 11 Jan 2022 (estimated)
- Study completion
- 25 Jun 2023 (estimated)
- First posted
- 8 Jun 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.
β-thalassemia is one of the most common single gene disorder in Southern China. The phenotypic severity of beta thalassemia widely varies from mild to severe forms. Patients with the same beta thalassemia genotype show wide phenotypic variability that ranges from moderate to severe disease due to various genetic modifiers of disease severity. The aim of this study is to looking for the genetic factors which could affect the severity of beta thalassemia.
Detailed description
The understanding of the genotype-phenotype correlation is a very important issue to the precise diagnosis of beta thalassemia. However, the genotype-phenotype correlation of Beta thalassemia is so complex that the pathogenesis of some patients remains uncertain and cannot be explained by known mechanisms. The study of the role of the genetic variants in modulating beta thalassemia phenotype could brought us considerable novel and interesting information in this area. We will collecting more than 1000 beta thalassemia patients , analyzing their clinical data and genome data, and association study will be conducted to screen the positive genetic variants which exert a significant effect on both the HbF levels and onset ages of beta thalassemia patients.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| beta thalassemia patients | – | Diagnostic Test: Hematological Analysis and Genetical Analysis |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- beta thalassemia patients from Southern China.
Key inclusion criteria (1 listed)
- Diagnosed with β-thalassemia
Key exclusion criteria (1 listed)
- Iron Deficiency Anemia
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Hematological Analysis and Genetical AnalysisHematological Analysis: Hematological parameters were determined with an automated hematology analyzer (Sysmex, Japan), and hemoglobin analysis was performed with either high-performance liquid chromatography (Bio-Rad, USA) or capillary electrophoresis (Sebia, France and Helena, USA). Genetical Analysis: Genomic DNA was extracted from peripheral blood (PB) by using a standard phenol/chloroform method. The genotypes of samples are analyzed by NGS assay. | Diagnostic test | beta thalassemia patients |
Primary outcome
Genetic variants which could influence the phenotype of beta thalassemia
Time frame: 1 year
Identified a group of single-nucleotide polymorphisms (SNPs) that contribute to β-thalassemia
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Jun 2021.
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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. This study is not recruiting at the moment.
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 Beta Thalassemia, run by Nanfang Hospital, Southern Medical University at 1 site in China.
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 1 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: status not confirmed, as of the sponsor's last update on 11 Jun 2021. 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 China. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Xiangmin Xu, Prof. Dr. ((20) 61648293 ext. 86, xixm@smu.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genetic variants which could influence the phenotype of beta thalassemia (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 11 Jun 2021.