Clinical trial NCT03872531: Lifetime Impact Study for Achondroplasia
Official title: Lifetime Impact Study for Achondroplasia (LISA)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Achondroplasia
Lead sponsor: BioMarin Pharmaceutical
Sponsor class: INDUSTRY
First posted: 2019-03-13
Enrollment: 173
Sex: ALL
Minimum age (years): 3
Maximum age (years): 100
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with a diagnosis of Achondroplasia aged 3 years or older in Argentina, Brazil and Colombia

Brief 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 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:

1. During routine hospital visits
2. From clinic lists of those previously treated but no longer followed at the study site.
3. 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.

Eligibility criteria: Inclusion Criteria:

1. Individual with a documented diagnosis of achondroplasia based on:

   1. Genetic confirmation of achondroplasia and/or
   2. Clinical diagnosis of achondroplasia (clinical examination and/or radiological assessment)
2. ≥ three years of age at the time of enrollment
3. 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)
4. Agrees to participate in the study and has read, understood, completed and signed:

   1. Informed Consent Form (ICF) - for adult subjects
   2. 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.
5. Has medical records available for the three years prior to the date of enrollment.

Exclusion Criteria:

1. Currently participating, or participated in the last six months, in

   1. a clinical trial of a medicinal product or medical device or
   2. other non-clinical or low interventional studies
2. Currently participating or has participated in any BioMarin study at any time.

Primary outcomes:
measure: Healthcare resource use
timeFrame: 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:
measure: Socio-economic burden
timeFrame: 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
measure: Pediatric Functional Independence Measure (WeeFIM)
timeFrame: 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
measure: Adolescent Pediatric Pain Tool (APPT)
timeFrame: 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
measure: Pediatric Quality of Life Inventory (PedsQL)
timeFrame: 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
measure: Quality of Life Short Stature Youth (QoLiSSY) Questionnaire
timeFrame: 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
measure: Nottingham Health Profile(NHP) Questionnaire
timeFrame: 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
measure: Brief Pain Inventory-Short Form (BPI-SF) Questionnaire
timeFrame: 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
measure: EuroQol - 5 Dimensions - 5 Levels (EQ-5D-5L) Questionnaire
timeFrame: 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
measure: Child Behaviour Checklist (CBCL)
timeFrame: 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
measure: Understanding the Impact of Achondroplasia on Quality of Life Questionnaire
timeFrame: 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
Other outcomes:
measure: Measurement of Height
timeFrame: Retrospective data will be collected for 3 years prior to date of enrolment
measure: Measurement of Weight
timeFrame: Retrospective data will be collected for 3 years prior to date of enrolment
measure: Body Mass Index (BMI)
timeFrame: Retrospective data will be collected for 3 years prior to date of enrolment
measure: Head Circumference
timeFrame: Retrospective data will be collected for 3 years prior to date of enrolment
measure: Upper and Lower Arm Length
timeFrame: Retrospective data will be collected for 3 years prior to date of enrolment
measure: Iliac Height (hip to floor)
timeFrame: Retrospective data will be collected for 3 years prior to date of enrolment
measure: Subischial Length
timeFrame: Retrospective data will be collected for 3 years prior to date of enrolment
measure: Thigh Length
timeFrame: Retrospective data will be collected for 3 years prior to date of enrolment
measure: Knee Height
timeFrame: Retrospective data will be collected for 3 years prior to date of enrolment
Locations:
city: Buenos Aires
country: Argentina
facility: Hospital de Pediatría "Prof. Dr. Juan P. Garrahan"
city: Rio de Janeiro
country: Brazil
facility: Instituto Nacional Fernandes Figueira (IFF), Fundacao Osvaldo Cruz
city: São Paulo
country: Brazil
facility: Centro de Pesquisa Clínica do Instituto da Criança HC - FMUSP
city: Bogotá
country: Colombia
facility: Fundacion Cardioinfantil-instituto de cardiologia
Study officials:
affiliation: BioMarin Pharmaceutical
name: Medical Director
role: STUDY_DIRECTOR
References: