The Norwegian Adult Achondroplasia Study

Sunnaas Rehabilitation Hospital

Status: Completed

Conditions: Achondroplasia

Treatments: Other: No intervention

Study type: Observational

Funder types: Other

Identifiers

NCT03780153

2019/FO249324

Details and patient eligibility

About

The study aims to investigate the Norwegian adult achondroplasia population regarding degree and extent of symptoms and clinical manifestations and how this population manages in daily life, including demographics, physical function, and work participation.

Full description

The present study aims to investigate the degree and extent of spinal stenosis, chronic pain, sleep apnoea, impaired hearing, cardiovascular risk factors and body composition in Norwegian adults with achondroplasia. The study will also explore these factors' impact on physical function, ability to perform daily activities, work participation and needs for assistive devices and social benefits. The study is conducted in collaboration with the Norwegian Restricted Growth Association, and TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Lovisenberg Hospital and Oslo University Hospital.

Enrollment: 50 patients

Sex: All

Ages: 16+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Residents of Norway
• Aged 16 years or older
• Clinical and genetic diagnosis of achondroplasia
• Speak and understand the Norwegian language.

Exclusion criteria

• Severe cognitive deficits, mental illness or substance abuse
• Having a medical condition making them unable to participate in the study.