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The Norwegian Adult Achondroplasia Study

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ClinicalTrials.gov Identifier: NCT03780153
Recruitment Status : Active, not recruiting
First Posted : December 19, 2018
Last Update Posted : September 30, 2019
Sponsor:
Information provided by (Responsible Party):
Sunnaas Rehabilitation Hospital

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.

Condition or disease Intervention/treatment
Achondroplasia 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.

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Study Type : Observational
Actual Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: The Norwegian Adult Achondroplasia Study
Actual Study Start Date : March 1, 2017
Actual Primary Completion Date : March 31, 2019
Estimated Study Completion Date : March 31, 2020



Intervention Details:
  • Other: No intervention
    Observation study. No intervention


Primary Outcome Measures :
  1. 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

  2. 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.

  3. 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


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


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Ages Eligible for Study:   16 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Gender Based Eligibility:   Yes
Gender Eligibility Description:   16 years or older
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Adults 16 years or older with achondroplasia
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03780153


Locations
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Norway
Sunnas Rehabilitation Hospital
Nesoddtangen, Akershus, Norway, 1450
Sponsors and Collaborators
Sunnaas Rehabilitation Hospital
Investigators
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Study Director: Vegard Strom, Phd Sunnaas Rehabilitation Hospital

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Responsible Party: Sunnaas Rehabilitation Hospital
ClinicalTrials.gov Identifier: NCT03780153     History of Changes
Other Study ID Numbers: 2019/FO249324
First Posted: December 19, 2018    Key Record Dates
Last Update Posted: September 30, 2019
Last Verified: September 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: Deidentified data will be available on request

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Achondroplasia
Dwarfism
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Osteochondrodysplasias
Genetic Diseases, Inborn