Growth and Development-related Outcomes in Children With Transfusion-dependent Beta-thalassemia After Gene Therapy

Institute of Hematology & Blood Diseases Hospital, China100 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

100

Conditions

Transfusion-dependent Beta-Thalassemia Gene Therapy

Interventions

Gene therapyGENETIC

Autologous edited hematopoietic stem cell transplantation

Eligibility

Sex: ALLMin age: 3 YearsMax age: 14 Years

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

Growth in pediatric subjects will be assessed by height.

Height in meters.

Time frame: Up to 5 years.

Growth in pediatric subjects will be assessed by weight.

Weight in kilograms.

Time frame: Up to 5 years.

Growth in pediatric subjects will be assessed by the head and chest circumference.

Head and chest circumference in centimeters.

Time frame: Up to 5 years.

Growth in pediatric subjects will be assessed by interocular distance.

Interocular distance in centimeters.

Time frame: Up to 5 years.

Growth in pediatric subjects will be assessed by bone density.

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).

Time frame: Up to 5 years.

The pubertal status will be measured using by Tanner scale.

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.

Time frame: Up to 5 years.

Hormonal levels will be measured by clinical examination.

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.

Time frame: Up to 5 years.

Quality of life will be measured using by Pediatric Quality of Life Inventory (PedsQL) at baseline and the end of the study.

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.

Time frame: Up to 5 years.

Lifestyle behaviors will be assessed by general questioning.

Time frame: Up to 5 years.

Growth and Development-related Outcomes in Children With Transfusion-dependent Beta-thalassemia After Gene Therapy

Overview

Conditions

Interventions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Central Contacts