The Norwegian Adult Achondroplasia Study

NCT03780153 | Completed

• 1 other identifier: 2019/FO249324
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Achondroplasia

Outcome Measures

Primary Outcomes (3)

• 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

Interventions

No intervention OTHER

Observation study. No intervention

Eligibility Criteria

• Age: 16 Years+
• Gender Eligibility Details: 16 years or older
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adults 16 years or older with achondroplasia

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Sunnaas Rehabilitation Hospital: lead

Study Sites (1)

Sunnas Rehabilitation Hospital

Nesoddtangen, Akershus, 1450, Norway

Location

Related Publications (3)

• 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.

  PMID: 34736503 DERIVED

• 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.

  PMID: 33827611 DERIVED

• 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.

  PMID: 33204020 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Diagnosis of achondroplasia will be genetically verified. Blood samples for lipids, glucose, thyroid-, liver and kidney function and key regulating hormones in fat- and glucose metabolism

MeSH Terms

Conditions

Achondroplasia

Condition Hierarchy (Ancestors)

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

Study Officials

• Vegard Strom, Phd

  Sunnaas Rehabilitation Hospital

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 17, 2018
• First Posted: December 19, 2018
• Study Start: March 1, 2017
• Primary Completion: March 31, 2019
• Study Completion: March 21, 2022
• Last Updated: October 31, 2022

Record last verified: 2021-12

Locations

NO (1)