AchondroplasiaNCT03780153
The Norwegian Adult Achondroplasia Study
An observational study of Achondroplasia, run by Sunnaas Rehabilitation Hospital at 1 site in Norway.
Trial 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. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Achondroplasia
- How many people
- 50 participants
- Where
- 1 siteNorway
- Study dates
- 1 Mar 2017to 21 Mar 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Adults 16 years or older with achondroplasia
Who may be able to join
- Residents of Norway
- Aged 16 years or older
- Clinical and genetic diagnosis of achondroplasia
- Speak and understand the Norwegian language.
Who cannot join
- Severe cognitive deficits, mental illness or substance abuse
- Having a medical condition making them unable to participate in the study.
Trial locations and contacts
1 site in 1 country.
About this 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.
Read the 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.
- Conditions
- Achondroplasia
- Being tested
- No intervention
- Medical subject headings
- Achondroplasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
Observation study. No intervention
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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.
Measured: 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
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Dec 2018
- Study start1 Mar 2017
- Primary completion31 Mar 2019
- Study completion21 Mar 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for AchondroplasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 50 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sunnaas Rehabilitation Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Vegard Strom, Phd, Study director, Sunnaas Rehabilitation Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03780153
- Sponsor's protocol ID
- 2019/FO249324
- Status last verified
- Dec 2021
- First submitted
- 17 Dec 2018
- Last updated
- 31 Oct 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Deidentified data will be available on request
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.
PubMed 34736503Fredwall 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.
PubMed 33827611Fredwall 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.
PubMed 33204020
Study at a glance
From the registry record, last updated by the sponsor on 31 Oct 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Norwegian Adult Achondroplasia Study
- ClinicalTrials.gov ID
- NCT03780153
- Acronym / sponsor ID
- 2019/FO249324
- Conditions
- Achondroplasia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 50 participants (actual)
- Lead sponsor
- Sunnaas Rehabilitation HospitalUniversity, hospital or other
- Study start
- 1 Mar 2017 (actual)
- Primary completion
- 31 Mar 2019 (actual)
- Study completion
- 21 Mar 2022 (actual)
- First posted
- 19 Dec 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Adults 16 years or older with achondroplasia
Key inclusion criteria (4 listed)
- Residents of Norway
- Aged 16 years or older
- Clinical and genetic diagnosis of achondroplasia
- Speak and understand the Norwegian language.
Key exclusion criteria (2 listed)
- Severe cognitive deficits, mental illness or substance abuse
- Having a medical condition making them unable to participate in the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionObservation study. No intervention | Other | – |
Primary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Oct 2022.
- Derived from this study: PubMed 34736503Fredwall 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.
- Derived from this study: PubMed 33827611Fredwall 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.
- Derived from this study: PubMed 33204020Fredwall 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.
- Individual participant dataSharing planned: Undecided. Deidentified data will be available on request
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Vegard Strom, Phd study director
Sunnaas Rehabilitation Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Achondroplasia, run by Sunnaas Rehabilitation Hospital at 1 site in Norway.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 31 Oct 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Norway. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Describe the prevalence of medical complications in adults with achondroplasia (time frame: 2 years). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03780153, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Oct 2022.