The Norwegian Adult Achondroplasia Study

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.

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Key information

Conditions

Achondroplasia Bone Diseases Bone Diseases, Developmental Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dwarfism Genetic Diseases, Inborn Musculoskeletal Diseases Osteochondrodysplasias

Age range

16 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Sunnas Rehabilitation Hospital

Nesoddtangen, Akershus, 1450, Norway

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

No intervention

Other

Observation study. No intervention

Primary outcomes

Describe the prevalence of medical complications in adults with achondroplasia

Time frame: 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.

Time frame: 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

Time frame: 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

Sponsors and collaborators

Lead sponsor

Sunnaas Rehabilitation Hospital

Other

Registry information

Important dates

Study start: 2017
Primary completion: 2019
Study completion: 2022
First posted: Dec 19, 2018
Registry last updated: Oct 31, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed