Achondroplasia
Conditions
Brief summary
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.
Detailed 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.
Interventions
OTHERNo intervention
Observation study. No intervention
Sponsors
Sunnaas Rehabilitation Hospital
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
16 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Describe the prevalence of medical complications in adults with achondroplasia | 2 years | Describe prevalence of medical complications in a cohort of Norwegian adults with achondroplasia using interview, clinical examination and review of medical records. Data on spinal stenosis will be obtained by face-to-face interview, clinical examination, and review of medical charts including MRI-scans. Assessment of sleep apnoea will include an overnight sleep registration (polygraphy). Hearing will be assessed by standardized examination including audiometry, tympanometry and impedance measurements |
| Describe prevalence of cardiovascular risk factors in adults with achondroplasia, and investigate body composition. | 2 years | Cardiovascular risk factors, including smoking habits and blood pressure, will be recorded by interview and clinical examination, and will also include a fasting blood sample for lipids, glucose, HbA1C, thyroid, kidney and liver function tests. Body composition will be assessed by anthropometric measures (height in cm, weight in kg, waist circumference in cm, and hip circumference in cm), BMI will be calculated, and body fat content and distribution will be assessed by using MRI. |
| Demographics and activity of daily living (ADL), education and work participation | 2 years | Data on age, gender, education level, work participation, needs for assistive devices and social benefits will be obtained by interview. Assessment of ADL will be obtained by clinical interview and by use of The Health Assessment Questionnaire |
Countries
Norway
Outcome results
None listed