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.

Study Overview

• Status: Completed
• Conditions: Achondroplasia
• Intervention / Treatment: Other: No intervention

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.

• Study Type: Observational
• Enrollment (Actual): 50

Contacts and Locations

Study Locations

• Norway
  • Akershus
    • Nesoddtangen, Akershus, Norway, 1450
      • Sunnas Rehabilitation Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Adults 16 years or older with achondroplasia

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Describe the prevalence of medical complications in adults with achondroplasia	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	2 years
Describe prevalence of cardiovascular risk factors in adults with achondroplasia, and investigate body composition.	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.	2 years
Demographics and activity of daily living (ADL), education and work participation	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	2 years

Collaborators and Investigators

• Sponsor: Sunnaas Rehabilitation Hospital
• Investigators: Study Director: Vegard Strom, Phd, Sunnaas rehabilitation hospital

Publications and helpful links

General Publications

• 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.
• 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.
• 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. Erratum In: Genet Med. 2021 Nov;23(11):2234.

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2017
• Primary Completion (Actual): March 31, 2019
• Study Completion (Actual): March 21, 2022

Study Registration Dates

• First Submitted: December 17, 2018
• First Submitted That Met QC Criteria: December 17, 2018
• First Posted (Actual): December 19, 2018

Study Record Updates

• Last Update Posted (Actual): October 31, 2022
• Last Update Submitted That Met QC Criteria: October 28, 2022
• Last Verified: December 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Musculoskeletal Diseases; Bone Diseases; Dwarfism; Bone Diseases, Developmental; Osteochondrodysplasias; Achondroplasia
• Other Study ID Numbers: 2019/FO249324

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Undecided
• IPD Plan Description: Deidentified data will be available on request

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No