Gene Therapy, Transfusion-dependent Beta-Thalassemia
Conditions
Keywords
Transfusion-dependent Beta-Thalassemia, gene therapy, cohort study, case-control
Brief summary
The investigate will conduct a cohort study to compare the growth and development, metabolism, lifestyle behavior, and health-related quality of life among three groups: children with transfusion-dependent β-thalassemia (TDT) who have received gene therapy, TDT children with lifelong supportive therapy and healthy children.
Interventions
GENETICGene therapy
Autologous edited hematopoietic stem cell transplantation
Sponsors
Institute of Hematology & Blood Diseases Hospital, China
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
3 Years to 14 Years
Healthy volunteers
Yes
Inclusion criteria
Gene therapy group-inclusion * Male or female age of 3-14 years * TDT Children who have received gene therapy. * Subjects who are willing and able to provide written informed consent. Supportive therapy group-inclusion * Gender same as the matched case * Age similar to the matched case * Children with β-TDT * No history of gene therapy or allogeneic hematopoietic stem cell transplantation * Subjects who are willing and able to provide written informed consent. Healthy children group-inclusion * Gender same as the matched case * Age similar to the matched case * Subjects who are willing and able to provide written informed consent.
Exclusion criteria
* Diagnosis of compound α-thalassemia * Uncontrolled systemic fungal, bacterial, or viral infection * History of malignant solid tumors, myeloproliferative or immunodeficiency diseases * Diagnosed with mental illness * Patients considered to be ineligible for the study by the investigator for reasons other than the above Discontinuation of Study : * Subjects who are unwilling or unable to continue participating in the study (withdrawal of informed consent) may withdraw from the study * Subjects who received gene therapy or allogeneic hematopoietic stem cell transplantation during the study * The subject is seriously non-compliant with the study requirements, such as missing 2 consecutive visits * Subject lost to follow-up
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Growth in pediatric subjects will be assessed by height. | Up to 5 years. | Height in meters. |
| Growth in pediatric subjects will be assessed by weight. | Up to 5 years. | Weight in kilograms. |
| Growth in pediatric subjects will be assessed by the head and chest circumference. | Up to 5 years. | Head and chest circumference in centimeters. |
| Growth in pediatric subjects will be assessed by interocular distance. | Up to 5 years. | Interocular distance in centimeters. |
| Growth in pediatric subjects will be assessed by bone density. | Up to 5 years. | Bone density measurement is measured by a procedure called densitometry, performed in the radiology medicine departments of hospitals or clinics. The result is the bone mineral density in grams per unit area (g/cm2). |
| The pubertal status will be measured using by Tanner scale. | Up to 5 years. | The Tanner scale, a well-known technique used to define pubertal stage, is based on physical measurements of development based on external primary and secondary sex characteristics (from Tanner 1: pre-pubertal to Tanner 5: mature adolescent).It was developed by Marshall and Tanner while conducting a longitudinal study during the 1940s to the 1960s in England. Based on observational data, they developed separate scales for the development of external genitalia: phallus, scrotum, and testes volume in males; breasts in females; and pubic hair in both males and females. |
| Hormonal levels will be measured by clinical examination. | Up to 5 years. | Hormonal levels included thyroid-stimulating hormone (TSH), serum triiodothyronine (T3), serum-free triiodothyronine (T4), growth hormone (GH, including IGF-1 and IGF-2), and sex hormone examination. Sex hormone examination is only for the following subjects: estradiol, FSH and LH for girls aged 9-18; testosterone, FSH and LH for boys aged 12-18. |
| Quality of life will be measured using by Pediatric Quality of Life Inventory (PedsQL) at baseline and the end of the study. | Up to 5 years. | The Pediatric Quality of Life Inventory (PedsQL) is a valid, standardized, generic, and self-reporting assessment tool to measure health-related quality of life HRQOL for pediatrics and adolescents. PedsQL contain 23-items, and consists of the following: physical functioning, emotional functioning, social functioning, and school functioning. Each item is scored on a 5-point scale, scores are linearly transformed to a 0-100 scale in which high score means better condition. |
| Lifestyle behaviors will be assessed by general questioning. | Up to 5 years. | — |
Countries
China
Contacts
Primary ContactJun Shi, PhD
Backup ContactJingyu Zhao, MPH
Outcome results
None listed