The Norwegian Adult Achondroplasia Study

NCT ID: NCT03780153

Last Updated: 2022-10-31

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-03-01

Study Completion Date

2022-03-21

Brief Summary

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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

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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.

Conditions

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Achondroplasia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Interventions

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No intervention

Observation study. No intervention

Intervention Type OTHER

Eligibility Criteria

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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.
Minimum Eligible Age

16 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Sunnaas Rehabilitation Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Vegard Strom, Phd

Role: STUDY_DIRECTOR

Sunnaas Rehabilitation Hospital

Locations

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Sunnas Rehabilitation Hospital

Nesoddtangen, Akershus, Norway

Site Status

Countries

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Norway

References

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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.

Reference Type DERIVED
PMID: 34736503 (View on PubMed)

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.

Reference Type DERIVED
PMID: 33827611 (View on PubMed)

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.

Reference Type DERIVED
PMID: 33204020 (View on PubMed)

Other Identifiers

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2019/FO249324

Identifier Type: -

Identifier Source: org_study_id

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