AchondroplasiaLISANCT03872531
Lifetime Impact Study for Achondroplasia
An observational study of Achondroplasia, run by BioMarin Pharmaceutical at 4 sites in 3 countries.
Trial summary
Observational study looking at the burden of illness in achondroplasia subjects aged 3 and above. The study will include a 3 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 3 to 100 years
- Conditions the study is for
- Achondroplasia
- How many people
- 173 participants
- Where
- 4 sitesin 3 countries
- Study dates
- 31 Mar 2019to 6 Feb 2021
- 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 3 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with a diagnosis of Achondroplasia aged 3 years or older in Argentina, Brazil and Colombia
Who may be able to join
- Individual with a documented diagnosis of achondroplasia based on:
- Genetic confirmation of achondroplasia and/or
- Clinical diagnosis of achondroplasia (clinical examination and/or radiological assessment)
- ≥ three years of age at the time of enrollment
- 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 the three years prior to the date of enrollment.
Who cannot join
- Currently participating, or participated in the last six months, in
- a clinical trial of a medicinal product or medical device or
- other non-clinical or low interventional studies
- Currently participating or has participated in any BioMarin study at any time.
Trial locations and contacts
4 sites in 3 countries.
4 sites in 3 countries
Brazil2 sites
Instituto Nacional Fernandes Figueira (IFF), Fundacao Osvaldo Cruz
Rio de Janeiro
Centro de Pesquisa Clínica do Instituto da Criança HC - FMUSP
São Paulo
Argentina1 site
Hospital de Pediatría "Prof. Dr. Juan P. Garrahan"
Buenos Aires
About this study
Official title: Lifetime Impact Study for Achondroplasia (LISA)
Observational study looking at the burden of illness in achondroplasia subjects aged 3 and above. The study will include a 3 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 175 subjects will be enrolled in sites in Argentina, Colombia and Brazil.
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 4 sites in Latin American Countries - Brazil, Argentina and Colombia.
Subjects will be identified for participation in the study via three routes:
- During routine hospital visits
- From clinic 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 distributed to potential subjects.
Data will be collected over a minimum of the three 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, mobility, psychosocial burden, socio-economic 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.
Subject participation onto the study will be voluntary, without financial support to 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 3-5 with a cap at 20 subjects. This is a retrospective, observational study | |
| Cohort 2 | Includes age group 6-10 with a cap at 30 subjects. This is a retrospective, observational study | |
| Cohort 3 | Includes age group 11-15 with a cap of 30 subjects. This is a retrospective, observational study | |
| Cohort 4 | Includes age group 16-20 with a cap of 20 subjects. This is a retrospective, observational study | |
| Cohort 5 | Includes age group 21-30 with a cap at 20 subjects. This is a retrospective, observational study | |
| Cohort 6 | Includes age group 31-40 with a cap at 20 subjects. This is a retrospective, observational study | |
| Cohort 7 | Includes age group 41 and over with a cap at 35 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 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 end of study with the final Clinical Study Report, May 2020
Secondary outcomes (10)
Socio-economic burden
Data about socio-economic burden will be collected via validated and structured questionnaires specifically the Work and Productivity and Activity Impairment (WPAI-SHP)
Measured: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 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. The study will be assessing subjects aged from 3 to 17 years
Measured: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 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: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 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: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 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: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 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: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 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: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 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: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 2020
Child Behaviour Checklist (CBCL)
The CBCL questionnaire is completed by the parent to assess the child behavioral and emotional problems. The questions are grouped into eight categories which focus on different aspects of behavior: aggressive behavior, anxious/depressed, attention problems, rule-breaking behavior, somatic complaints, social problems, thought problems and withdrawn/depressed.
Measured: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 2020
Understanding the Impact of Achondroplasia on Quality of Life Questionnaire
Impact on anxiety, depression, sleep disturbance and impact on relationships with others (spouse/partner family members, friends), social life and activities, perception of health, self-esteem, plans/ambitions for the future.
Measured: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 2020
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Mar 2019
- Study start31 Mar 2019
- Primary completion6 Feb 2021
- Study completion6 Feb 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- 173 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
- NCT03872531
- Sponsor's protocol ID
- 111-502
- Acronym
- LISA
- Status last verified
- Mar 2021
- First submitted
- 16 Jan 2019
- Last updated
- 5 Apr 2021
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
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
- Lifetime Impact Study for Achondroplasia (LISA)
- ClinicalTrials.gov ID
- NCT03872531
- Acronym / sponsor ID
- LISA / 111-502
- Conditions
- Achondroplasia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 173 participants (actual)
- Lead sponsor
- BioMarin PharmaceuticalIndustry (pharma, biotech, devices)
- Study start
- 31 Mar 2019 (actual)
- Primary completion
- 6 Feb 2021 (actual)
- Study completion
- 6 Feb 2021 (actual)
- First posted
- 13 Mar 2019 (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 3 and above. The study will include a 3 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 175 subjects will be enrolled in sites in Argentina, Colombia and Brazil.
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 4 sites in Latin American Countries - Brazil, Argentina and Colombia.
Subjects will be identified for participation in the study via three routes:
- During routine hospital visits
- From clinic 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 distributed to potential subjects.
Data will be collected over a minimum of the three 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, mobility, psychosocial burden, socio-economic 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.
Subject participation onto the study will be voluntary, without financial support to the subject.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 7
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | – | –Includes age group 3-5 with a cap at 20 subjects. This is a retrospective, observational study |
| Cohort 2 | – | –Includes age group 6-10 with a cap at 30 subjects. This is a retrospective, observational study |
| Cohort 3 | – | –Includes age group 11-15 with a cap of 30 subjects. This is a retrospective, observational study |
| Cohort 4 | – | –Includes age group 16-20 with a cap of 20 subjects. This is a retrospective, observational study |
| Cohort 5 | – | –Includes age group 21-30 with a cap at 20 subjects. This is a retrospective, observational study |
| Cohort 6 | – | –Includes age group 31-40 with a cap at 20 subjects. This is a retrospective, observational study |
| Cohort 7 | – | –Includes age group 41 and over with a cap at 35 subjects. This is a retrospective, observational study |
Who may qualify
- Ages
- 3 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with a diagnosis of Achondroplasia aged 3 years or older in Argentina, Brazil and Colombia
Key inclusion criteria (9 listed)
- Individual with a documented diagnosis of achondroplasia based on:
- ≥ three years of age at the time of enrollment
- 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 the three years prior to the date of enrollment.
Key exclusion criteria (4 listed)
- Currently participating, or participated in the last six months, in
- Currently participating or has 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 end of study with the final Clinical Study Report, May 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 validated and structured questionnaires
10 secondary outcomes
Socio-economic burden
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 end of study with the final Clinical Study Report, May 2020
Pediatric Functional Independence Measure (WeeFIM)
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 end of study with the final Clinical Study Report, May 2020
Adolescent Pediatric Pain Tool (APPT)
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 end of study with the final Clinical Study Report, May 2020
Pediatric Quality of Life Inventory (PedsQL)
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 end of study with the final Clinical Study Report, May 2020
Quality of Life Short Stature Youth (QoLiSSY) Questionnaire
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 end of study with the final Clinical Study Report, May 2020
Nottingham Health Profile(NHP) Questionnaire
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 end of study with the final Clinical Study Report, May 2020
Brief Pain Inventory-Short Form (BPI-SF) Questionnaire
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 end of study with the final Clinical Study Report, May 2020
EuroQol - 5 Dimensions - 5 Levels (EQ-5D-5L) Questionnaire
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 end of study with the final Clinical Study Report, May 2020
Child Behaviour Checklist (CBCL)
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 end of study with the final Clinical Study Report, May 2020
Understanding the Impact of Achondroplasia on Quality of Life Questionnaire
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 end of study with the final Clinical Study Report, May 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.
Related trials for Achondroplasia
Enrolling by invitationPhase 2
Extension Study of Infigratinib in Children With Achondroplasia (ACH)
Achondroplasia
RecruitingPhase 2/3
Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia
Achondroplasia
Active, not recruitingPhase 2
A Clinical Trial to Evaluate Efficacy and Safety of Navepegritide in Adolescents (12 - 18 Years of Age) With Achondroplasia.
Achondroplasia
Active, not recruitingPhase 3
Evaluate the Efficacy and Safety of KK8398 in Patients With Achondroplasia（AOBA Study）
Achondroplasia
RecruitingPhase 2
A Study of TYRA-300 in Children With Achondroplasia: BEACH301
Achondroplasia
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
4 sites in 3 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 4 sites in 3 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 4 sites in Brazil, Argentina, Colombia. 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 end of study with the final Clinical Study Report, May 2020). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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.