AchondroplasiaLIAISENCT03449368
Lifetime Impact of Achondroplasia Study in Europe-LIAISE
An observational study of Achondroplasia, run by BioMarin Pharmaceutical at 13 sites in 6 countries.
Trial summary
Observational study looking at the burden of illness in achondroplasia subjects aged 5-70. The study will include a 5 year review of historical clinical data as well as a single point collection of questionnaire data to look at the impact on the following in individuals with achondroplasia versus a normative… Read more about this study
- Who is it for?
- Ages 5 to 70 years
- Conditions the study is for
- Achondroplasia
- How many people
- 196 participants
- Where
- 13 sitesin 6 countries
- Study dates
- 17 Dec 2017to 29 Apr 2020
- 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 5 to 70 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with a diagnosis of Achondroplasia aged 5 years or older in Sweden, Germany, Spain, Italy, Austria and Denmark.
Who may be able to join
- Individuals with a documented diagnosis of achondroplasia based on:
- Genetic confirmation of achondroplasia and/or
- Clinical diagnosis of achondroplasia (clinical examination or radiological assessment)
- ≥ five years of age at the time of enrolment
- Has the cognitive and linguistic capacities necessary to complete questionnaires in the language of his/her country (and/or parents/legally acceptable representatives, as applicable)
- Agrees to participate in the study and has read, understood, completed and signed:
Show all 9Show fewer
- Informed Consent Form (ICF) - for adult subjects
- Informed Assent Form (IAF) - for minor subjects, accompanied by a parental ICF completed by their parents/legally acceptable representatives. The age at which the minor subjects sign the IAF will be subject to local requirements.
- Has medical records available for at least the five years prior to the date of enrolment.
Who cannot join
- Currently participating, or participated within the last six months, in
- a clinical trial of a medicinal product or medical device or,
- other non-clinical, low interventional studies
- Currently participating or participated in any BioMarin study at any time.
Trial locations and contacts
13 sites in 6 countries.
13 sites in 6 countries
Spain4 sites
Hospital Universitario La Paz
Madrid
Se ubica en los siguientes centros, Hospital Universitario Virgen de la Victoria
Málaga
Hospital Clínico Universitario Virgen de la Arrixaca
Murcia
Unidad de Dismorfología y metabolismo Hospital Universitario Virgen del Rocío
Seville
Germany3 sites
Klinik für Kinder- und Jugendmedizin
Cologne
Medizinische Fakultät, Universitätskinderklinik (KPAE)
Magdeburg, 44 39120
Universitätsmedizin
Mainz
Italy3 sites
UOC Pediatria
Como
Maternal and Child Health - University of Genova
Genova
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Roma
About this study
Official title: The Impact of Achondroplasia on Quality of Life, Healthcare Resource Use, Clinical, Socio-economic and Psychosocial State of the Individual.
Observational study looking at the burden of illness in achondroplasia subjects aged 5-70. The study will include a 5 year review of historical clinical data as well as a single point collection of questionnaire data to look at the impact on the following in individuals with achondroplasia versus a normative population:
- Quality of life
- Clinical burden
- Healthcare resource use
- Socio-economic burden
- Psychosocial burden
Up to 300 subjects will be included in sites in Germany, Spain, Italy, Sweden, Austria and Denmark
Read the detailed description
This is a multinational, epidemiological, observational, retrospective, cross-sectional study of individuals with achondroplasia (subjects). This study will be conducted at up to approximately 20 sites in European countries.
Subjects will be invited to enroll via 3 routes:
- During routine hospital visits
- From subject lists of those previously treated but no longer followed at the study site.
- Through collaboration of the Investigator with achondroplasia patient organizations, other achondroplasia-related organizations, other healthcare professionals in their country and achondroplasia-related social media sites. A recruitment flyer will be provided to these organizations, healthcare professionals and social media sites and will to be distributed to potential subjects.
Data will be collected over a minimum of the five years prior to the date of enrolment. Clinical and healthcare resource use data will be collected from medical records. For each subject enrolled, data from medical records will be collected and entered onto an electronic case report form (eCRF) at each site. Data collection from medical records will be supplemented by records provided by the subject and, if necessary, confirmed by the family doctor.
Data about QoL, psychosocial burden, socioeconomic burden and healthcare resource use will be collected via a booklet of validated and structured questionnaires.
Characteristics of subjects with achondroplasia (QoL scores, healthcare resource use, educational level, family status, employment status) will be compared with those of the general population, where available.
As this is an observational study, participation will not affect the subject/Investigator relationship, nor influence Investigator's treatment, therapeutic or other management of the subject.
- Conditions
- Achondroplasia
- Medical subject headings
- Achondroplasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1 | Includes age group 5-10 with a cap at 50 subjects. This is a retrospective, observational study. | |
| Cohort 2 | Includes age group 11-15 with a cap of 50 subjects. This is a retrospective, observational study. | |
| Cohort 3 | Includes age group 16-20 with a cap of 40 subjects. This is a retrospective, observational study. | |
| Cohort 4 | Includes age group 21-30 with a cap of 40 subjects. This is a retrospective, observational study. | |
| Cohort 5 | Includes age group 31-40 with a cap at 40 subjects. This is a retrospective, observational study. | |
| Cohort 6 | Includes age group 41-50 with a cap at 40 subjects. This is a retrospective, observational study. | |
| Cohort 7 | Includes age group 51-70 with a cap at 40 subjects. This is a retrospective, observational study. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Healthcare resource use
Healthcare resource use will be collected from medical records and through patient questionnaires. Data collection from medical records will be supplemented by records provided by the subject and, if necessary, confirmed by the family doctor. Healthcare resource use will be collected via a booklet of validated and structured questionnaires
Measured: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Secondary outcomes (8)
Socio-economic burden (educational, personal, employment and financial impact)
Data about socio-economic burden will be collected via a booklet of validated and structured questionnaires specifically the Work and Productivity and Activity Impairment (WPAI-SHP)
Measured: Outcomes will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Pediatric Functional Independence Measure (WeeFIM)
The WeeFIM measures the need for assistance and the severity of disability in children between six months and seven years of age. The instrument consists of 18 items covering three domains: self-care, mobility, and cognition. The mean total score within each domain and the overall total score will be summarized.
Measured: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Adolescent Pediatric Pain Tool (APPT)
The APPT is an instrument for self-reporting of pain by children and adolescents aged 8-17 years. Five subscale scores will be summarized on the analysis population
Measured: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Pediatric Quality of Life Inventory (PedsQL)
The PedsQL is comprised of four dimensions: Physical, Emotional, Social, and School Functioning. The overall score for each dimension is defined as the mean score for each item involved in the dimension. The overall score for each dimension and the mean total score across dimensions will be summarized for each report.
Measured: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Quality of Life Short Stature Youth (QoLiSSY) Questionnaire
The QoLISSY Questionnaire for children and adolescents consists of the core QOL dimensions: Physical, Social and Emotional, and three predictors of quality of life: Coping, Beliefs and Treatment. The QoLISSY total score is calculated by the sum of the means in the physical, social and emotional sub-scales divided by 3.
Measured: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Nottingham Health Profile(NHP) Questionnaire
The NHP is a generic quality of life survey used to measure subjective physical, emotional, and social aspects of health. The NHP total score is calculated by averaging the six domain scores.
Measured: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Brief Pain Inventory-Short Form (BPI-SF) Questionnaire
The BPI-SF is used to assess clinical pain. A mean severity score and mean interference score will be calculated and summarized for the analysis population
Measured: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
EuroQol - 5 Dimensions - 5 Levels (EQ-5D-5L) Questionnaire
EQ-5D-5L questionnaire has 5 dimensions: "Mobility", "Human Autonomy," "Current Activities", "Pain / Discomfort", "Anxiety / Depression" and all dimensions are described by 5 problem levels corresponding to patient response choices. A quality of life score is obtained according to the answers to the questionnaires.
Measured: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2018
- Study start17 Dec 2017
- Primary completion29 Apr 2020
- Study completion29 Apr 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for AchondroplasiaStudies of the same condition, open and under way.
- More trials run by BioMarin PharmaceuticalThe sponsor's other registered studies.
- 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
- Retrospective
- Enrolment
- 196 participants (actual)
Sponsor and investigators
- Lead sponsor
- BioMarin Pharmaceutical
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, BioMarin Pharmaceutical
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03449368
- Sponsor's protocol ID
- 111-501
- Acronym
- LIAISE
- Status last verified
- Feb 2020
- First submitted
- 14 Dec 2017
- Last updated
- 5 Apr 2021
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes
Publications
Maghnie M, Semler O, Guillen-Navarro E, Selicorni A, Heath KE, Haeusler G, Hagenas L, Merker A, Leiva-Gea A, Gonzalez VL, Raimann A, Rehberg M, Santos-Simarro F, Ertl DA, Gregersen PA, Onesimo R, Landfeldt E, Jarrett J, Quinn J, Rowell R, Pimenta J, Cohen S, Butt T, Shediac R, Mukherjee S, Mohnike K. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study. Orphanet J Rare Dis. 2023 Mar 15;18(1):56. doi: 10.1186/s13023-023-02652-2.
PubMed 36922864
Study at a glance
From the registry record, last updated by the sponsor on 5 Apr 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Impact of Achondroplasia on Quality of Life, Healthcare Resource Use, Clinical, Socio-economic and Psychosocial State of the Individual.
- ClinicalTrials.gov ID
- NCT03449368
- Acronym / sponsor ID
- LIAISE / 111-501
- Conditions
- Achondroplasia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 196 participants (actual)
- Lead sponsor
- BioMarin PharmaceuticalIndustry (pharma, biotech, devices)
- Study start
- 17 Dec 2017 (actual)
- Primary completion
- 29 Apr 2020 (actual)
- Study completion
- 29 Apr 2020 (actual)
- First posted
- 28 Feb 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.
Observational study looking at the burden of illness in achondroplasia subjects aged 5-70. The study will include a 5 year review of historical clinical data as well as a single point collection of questionnaire data to look at the impact on the following in individuals with achondroplasia versus a normative population:
- Quality of life
- Clinical burden
- Healthcare resource use
- Socio-economic burden
- Psychosocial burden
Up to 300 subjects will be included in sites in Germany, Spain, Italy, Sweden, Austria and Denmark
Detailed description
This is a multinational, epidemiological, observational, retrospective, cross-sectional study of individuals with achondroplasia (subjects). This study will be conducted at up to approximately 20 sites in European countries.
Subjects will be invited to enroll via 3 routes:
- During routine hospital visits
- From subject lists of those previously treated but no longer followed at the study site.
- Through collaboration of the Investigator with achondroplasia patient organizations, other achondroplasia-related organizations, other healthcare professionals in their country and achondroplasia-related social media sites. A recruitment flyer will be provided to these organizations, healthcare professionals and social media sites and will to be distributed to potential subjects.
Data will be collected over a minimum of the five years prior to the date of enrolment. Clinical and healthcare resource use data will be collected from medical records. For each subject enrolled, data from medical records will be collected and entered onto an electronic case report form (eCRF) at each site. Data collection from medical records will be supplemented by records provided by the subject and, if necessary, confirmed by the family doctor.
Data about QoL, psychosocial burden, socioeconomic burden and healthcare resource use will be collected via a booklet of validated and structured questionnaires.
Characteristics of subjects with achondroplasia (QoL scores, healthcare resource use, educational level, family status, employment status) will be compared with those of the general population, where available.
As this is an observational study, participation will not affect the subject/Investigator relationship, nor influence Investigator's treatment, therapeutic or other management of the subject.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 7
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | – | –Includes age group 5-10 with a cap at 50 subjects. This is a retrospective, observational study. |
| Cohort 2 | – | –Includes age group 11-15 with a cap of 50 subjects. This is a retrospective, observational study. |
| Cohort 3 | – | –Includes age group 16-20 with a cap of 40 subjects. This is a retrospective, observational study. |
| Cohort 4 | – | –Includes age group 21-30 with a cap of 40 subjects. This is a retrospective, observational study. |
| Cohort 5 | – | –Includes age group 31-40 with a cap at 40 subjects. This is a retrospective, observational study. |
| Cohort 6 | – | –Includes age group 41-50 with a cap at 40 subjects. This is a retrospective, observational study. |
| Cohort 7 | – | –Includes age group 51-70 with a cap at 40 subjects. This is a retrospective, observational study. |
Who may qualify
- Ages
- 5 to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with a diagnosis of Achondroplasia aged 5 years or older in Sweden, Germany, Spain, Italy, Austria and Denmark.
Key inclusion criteria (9 listed)
- Individuals with a documented diagnosis of achondroplasia based on:
- ≥ five years of age at the time of enrolment
- Has the cognitive and linguistic capacities necessary to complete questionnaires in the language of his/her country (and/or parents/legally acceptable representatives, as applicable)
- Agrees to participate in the study and has read, understood, completed and signed:
- Has medical records available for at least the five years prior to the date of enrolment.
Key exclusion criteria (4 listed)
- Currently participating, or participated within the last six months, in
- Currently participating or participated in any BioMarin study at any time.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Healthcare resource use
Time frame: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Healthcare resource use will be collected from medical records and through patient questionnaires. Data collection from medical records will be supplemented by records provided by the subject and, if necessary, confirmed by the family doctor. Healthcare resource use will be collected via a booklet of validated and structured questionnaires
8 secondary outcomes
Socio-economic burden (educational, personal, employment and financial impact)
Time frame: Outcomes will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Pediatric Functional Independence Measure (WeeFIM)
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Adolescent Pediatric Pain Tool (APPT)
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Pediatric Quality of Life Inventory (PedsQL)
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Quality of Life Short Stature Youth (QoLiSSY) Questionnaire
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Nottingham Health Profile(NHP) Questionnaire
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Brief Pain Inventory-Short Form (BPI-SF) Questionnaire
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
EuroQol - 5 Dimensions - 5 Levels (EQ-5D-5L) Questionnaire
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
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 5 Apr 2021.
- Derived from this study: PubMed 36922864Maghnie M, Semler O, Guillen-Navarro E, Selicorni A, Heath KE, Haeusler G, Hagenas L, Merker A, Leiva-Gea A, Gonzalez VL, Raimann A, Rehberg M, Santos-Simarro F, Ertl DA, Gregersen PA, Onesimo R, Landfeldt E, Jarrett J, Quinn J, Rowell R, Pimenta J, Cohen S, Butt T, Shediac R, Mukherjee S, Mohnike K. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study. Orphanet J Rare Dis. 2023 Mar 15;18(1):56. doi: 10.1186/s13023-023-02652-2.
- Individual participant dataSharing planned: Yes
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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.
Medical Director study director
BioMarin Pharmaceutical
13 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Achondroplasia, run by BioMarin Pharmaceutical at 13 sites in 6 countries.
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 9 inclusion and 4 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 5 Apr 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 13 sites in Spain, Germany, Italy, Austria, Denmark and 1 more country. 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?
Healthcare resource use (time frame: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020). 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 NCT03449368, which also lists 1 linked publication.
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 5 Apr 2021.