Clinical trial NCT03780153: The Norwegian Adult Achondroplasia Study
Official title: The Norwegian Adult Achondroplasia Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Achondroplasia
Lead sponsor: Sunnaas Rehabilitation Hospital
Sponsor class: OTHER
First posted: 2018-12-19
Enrollment: 50
Sex: ALL
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Adults 16 years or older with achondroplasia

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Describe the prevalence of medical complications in adults with achondroplasia
timeFrame: 2 years
measure: Describe prevalence of cardiovascular risk factors in adults with achondroplasia, and investigate body composition.
timeFrame: 2 years
measure: Demographics and activity of daily living (ADL), education and work participation
timeFrame: 2 years
Secondary outcomes:
Other outcomes:
Locations:
city: Nesoddtangen
country: Norway
facility: Sunnas Rehabilitation Hospital
state: Akershus
Study officials:
affiliation: Sunnaas Rehabilitation Hospital
name: Vegard Strom, Phd
role: STUDY_DIRECTOR
References:
citation: Fredwall SO, Aberg B, Berdal H, Savarirayan R, Solheim J. Hearing loss in Norwegian adults with achondroplasia. Orphanet J Rare Dis. 2021 Nov 4;16(1):468. doi: 10.1186/s13023-021-02095-7.
citation: Fredwall SO, Overland B, Berdal H, Berg S, Weedon-Fekjaer H, Lidal IB, Savarirayan R, Manum G. Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study. Orphanet J Rare Dis. 2021 Apr 7;16(1):156. doi: 10.1186/s13023-021-01792-7.
citation: Fredwall SO, Linge J, Leinhard OD, Kjonigsen L, Eggesbo HB, Weedon-Fekjaer H, Lidal IB, Manum G, Savarirayan R, Tonstad S. Cardiovascular risk factors and body composition in adults with achondroplasia. Genet Med. 2021 Apr;23(4):732-739. doi: 10.1038/s41436-020-01024-6. Epub 2020 Nov 18.