Early diagnosis of Stickler syndrome using a screening tool in children with Perthes disease

A cross-sectional study screening for Stickler syndrome in children diagnosed with Perthes disease

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ISRCTN

Registry ID

ISRCTN86229394

Enrollment

300

Registered

2025-04-03

Start date

2025-03-01

Completion date

Unknown

Last updated

2025-04-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Screening for Stickler syndrome in paediatric Perthes disease patients Musculoskeletal Diseases

Interventions

A screening tool for Stickler syndrome will be developed using past medical and family history for patients under Cambridge University Hospitals NHS Trust (CUH) and identified by Stickler Syndrome UK

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: We will have different cohorts at each stage of our study: 1. Design of screening tool: 1.1. Stickler syndrome patients participating in the SSUK patient membership survey 1.2. Stickler syndrome patients with a diagnosis of Perthes disease 2. Ratification of screening tool: 2.1. Stickler syndrome patients aged 4-10 years 2.2.General paediatric patients without a diagnosis of Stickler syndrome aged 4-10 years 3. Screening of Perthes disease population: 3.1. All paediatric patients attending paediatric orthopaedic Perthes disease clinics

Exclusion criteria

Exclusion criteria: We have different cohorts at each stage of our study: 1. Design of screening tool 1.1. Paediatric patients in SSUK patient membership survey without a Perthes disease diagnosis (as will be used in cohort 2) 2. Ratification of screening tool 2.1. Patients with a diagnosis of Perthes disease, being investigated for Perthes disease 2.2. General paediatric patients under investigation for a connective tissue disorder other than Stickler syndrome 3. Screening of Perthes disease population: 3.1. Previous genetic diagnosis of Stickler syndrome

Design outcomes

Primary

Measure	Time frame
Type 1 Stickler syndrome genetic test, EDTA 1ml blood sample for COL2A1 long range PCR at baseline	—

Secondary

Measure	Time frame
Screening tool results, past medical and family history of Stickler syndrome, obtained via questionnaire at baseline in all participants	—

Countries

England, United Kingdom

Contacts

Public ContactRobert Smyth

rs815@cam.ac.uk+44 1223 331160

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Feb 4, 2026