Early Scoliotic Changes in Children at Increased Risk for Scoliosis Development

NCT05924347 | Recruiting

• 1 other identifier: NL82419.041.22
• Study Type: observational
• Target: 120
• Locations: 1 country
• Sites: 1

Brief Summary

Rationale: Despite several decades of research, the exact etiology of adolescent idiopathic scoliosis (AIS) remains unclear. In AIS, spine curvature begins with and progresses during the adolescent growth spurt. Previous studies are only performed on populations with already established scoliosis and normal spinal growth (of bone and IVD tissue) during adolescence has also not been defined. Growth pattern differences may exist between scoliotic and nonscoliotic subjects. Previous studies support the hypothesis that AIS is a spinal deformity that starts with decompensation in the IVD and is linked to sagittal spinal alignment. However, to understand its cause and pathogenic mechanism, the changes to the adolescent spine must be assessed longitudinally during the growth period coinciding with the period prior to and during the onset of AIS. Ideally this should include a cohort who do and do not develop AIS and their assessment must be minimally harmful, without radiation exposure. Certain populations are at increased risk for scoliosis development (i.e. girls with family members with scoliosis and 22q11.2DS patients). New imaging modalities (boneMRI, 3D spinal ultrasound) allow for non-radiographic monitoring of spinal growth.

Conditions

Adolescent Idiopathic Scoliosis; 22q11.2 Deletion Syndrome

Outcome Measures

Primary Outcomes (10)

• Spinal MR Imaging of the thoracic and lumbar spine

  MRI images

  Girls: Baseline

• Spinal MR Imaging of the thoracic and lumbar spine

  MRI images

  Girls: 11year

• Spinal MR Imaging of the thoracic and lumbar spine

  MRI images

  Girls: 12year

• Spinal MR Imaging of the thoracic and lumbar spine

  MRI images

  Girls: 13year

• Spinal MR Imaging of the thoracic and lumbar spine

  MRI images

  Girls: 15year

• Spinal MR Imaging of the thoracic and lumbar spine

  MRI images

  Boys: Baseline

• Spinal MR Imaging of the thoracic and lumbar spine

  MRI images

  Boys: 12year

• Spinal MR Imaging of the thoracic and lumbar spine

  MRI images

  Boys: 13year

• Spinal MR Imaging of the thoracic and lumbar spine

  MRI images

  Boys: 14year

• Spinal MR Imaging of the thoracic and lumbar spine

  MRI images

  Boys: 16year

Secondary Outcomes (62)

• A-P ratio vertebrae and disc

  Girls: Baseline

• A-P ratio vertebrae and disc

  Girls: 11year

• A-P ratio vertebrae and disc

  Girls: 12year

• A-P ratio vertebrae and disc

  Girls: 13year

• A-P ratio vertebrae and disc

  Girls: 15year

Study Arms (2)

Cohort 1

60 adolescent girls (8-10 years old) at increased risk for idiopathic scoliosis development (an older sibling or parent diagnosed with idiopathic scoliosis)

Diagnostic Test: MRI; Diagnostic Test: Scolioscan; Diagnostic Test: Skeletal maturity assessment

Cohort 2

60 adolescent girls or boys with the 22q11.2DS with increased risk for idiopathic-like scoliosis development.

Diagnostic Test: MRI; Diagnostic Test: Scolioscan; Diagnostic Test: Skeletal maturity assessment

Interventions

MRI DIAGNOSTIC_TEST

Longitudinal MRI examination of the thoracic and lumbar spine (T2, T2w, sCT)

Cohort 1; Cohort 2

Scolioscan DIAGNOSTIC_TEST

3D ultrasound of the spine

Cohort 1; Cohort 2

Skeletal maturity assessment DIAGNOSTIC_TEST

At one timepoint, a Hand radiograph is taken for digital skeletal maturity assessment

Cohort 1; Cohort 2

Eligibility Criteria

• Age: 8 Years - 11 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Cohort 1: 60 adolescent girls (8-10 years old) at increased risk for idiopathic scoliosis development (an older sibling or parent diagnosed with idiopathic scoliosis) Cohort 2: 60 adolescent girls or boys with the 22q11.2DS with increased risk for idiopathic-like scoliosis development.

You may qualify if:

• Cohort 1:
• Female,
• , 9 or 10 years old
• An older sibling, twin or parent diagnosed with AIS
• Cohort 2:
• Diagnosed with 22q11.2DS
• Girls: 8, 9 or 10 years old.
• Boys: 9, 10 or 11 years old.
• All
• Written informed consent of parents/legal representatives.

You may not qualify if:

• Contraindications for MR imaging
• Early-onset scoliosis or other spinal deformities
• Other syndromes or neuromuscular disease associated with scoliosis
• Clinical signs of \>1cm leg length discrepancy
• Other diseases or injuries, that are related to abnormal spinal growth, posture, activity levels, or scoliosis development.

Sponsors & Collaborators

• UMC Utrecht: lead
• Eindhoven University of Technology: collaborator

Study Sites (1)

UMC Utrecht

Utrecht, 3584 CX, Netherlands

RECRUITING

Related Publications (1)

• Lafranca PPG, Stempels HW, de Reuver S, Houben ML, Kok J, Kruyt MC, Castelein RM, Seevinck PR, van der Velden T, Shcherbakova YM, Ito K, Schlosser TPC. EARLYBIRD: catching the earliest changes of the bone and intervertebral discs in children at increased risk for scoliosis development with MRI - study protocol of a prospective observational cohort study. BMJ Open. 2025 Jun 26;15(6):e098929. doi: 10.1136/bmjopen-2025-098929.

  PMID: 40578865 DERIVED

MeSH Terms

Conditions

DiGeorge Syndrome

Condition Hierarchy (Ancestors)

22q11 Deletion Syndrome; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Lymphatic Abnormalities; Lymphatic Diseases; Hemic and Lymphatic Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Hypoparathyroidism; Parathyroid Diseases; Endocrine System Diseases

Central Study Contacts

Tom Schlosser

CONTACT

+31 88 75 53602; t.p.c.schlosser@umcutrecht.nl

Hilde Stempels

CONTACT

h.w.stempels@umcutrecht.nl

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: January 26, 2023
• First Posted: June 29, 2023
• Study Start: June 16, 2023
• Primary Completion (Estimated): May 1, 2032
• Study Completion (Estimated): May 1, 2032
• Last Updated: June 29, 2023

Record last verified: 2023-06

Data Sharing

• IPD Sharing: Will share

Locations

NL (1)