Clinical trial NCT03449368: Lifetime Impact of Achondroplasia Study in Europe-LIAISE
Official title: The Impact of Achondroplasia on Quality of Life, Healthcare Resource Use, Clinical, Socio-economic and Psychosocial State of the Individual.
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Achondroplasia
Lead sponsor: BioMarin Pharmaceutical
Sponsor class: INDUSTRY
First posted: 2018-02-28
Enrollment: 196
Sex: ALL
Minimum age (years): 5
Maximum age (years): 70
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 5 years or older in Sweden, Germany, Spain, Italy, Austria and Denmark.

Brief 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 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:

1. During routine hospital visits
2. From subject 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 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.

Eligibility criteria: Inclusion Criteria:

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

   1. Genetic confirmation of achondroplasia and/or
   2. Clinical diagnosis of achondroplasia (clinical examination or radiological assessment)
2. ≥ five years of age at the time of enrolment
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 at least the five years prior to the date of enrolment.

Exclusion Criteria:

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

   1. a clinical trial of a medicinal product or medical device or,
   2. other non-clinical, low interventional studies
2. Currently participating or 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 interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Secondary outcomes:
measure: Socio-economic burden (educational, personal, employment and financial impact)
timeFrame: 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
measure: Pediatric Functional Independence Measure (WeeFIM)
timeFrame: 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
measure: Adolescent Pediatric Pain Tool (APPT)
timeFrame: 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
measure: Pediatric Quality of Life Inventory (PedsQL)
timeFrame: 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
measure: Quality of Life Short Stature Youth (QoLiSSY) Questionnaire
timeFrame: 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
measure: Nottingham Health Profile(NHP) Questionnaire
timeFrame: 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
measure: Brief Pain Inventory-Short Form (BPI-SF) Questionnaire
timeFrame: 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
measure: EuroQol - 5 Dimensions - 5 Levels (EQ-5D-5L) Questionnaire
timeFrame: 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
Other outcomes:
measure: Measurement of Height
timeFrame: Retrospective data will be collected for 5 years prior to date of enrolment
measure: Measurement of Weight Body Mass Index
timeFrame: Retrospective data will be collected for 5 years prior to date of enrolment
measure: Body Mass Index (BMI)
timeFrame: Retrospective data will be collected for 5 years prior to date of enrolment
Locations:
city: Vienna
country: Austria
facility: Medizinische Universitat Wien
city: Aarhus
country: Denmark
facility: Aarhus Universitetshospital
city: Cologne
country: Germany
facility: Klinik für Kinder- und Jugendmedizin
city: Magdeburg
country: Germany
facility: Medizinische Fakultät, Universitätskinderklinik (KPAE)
city: Mainz
country: Germany
facility: Universitätsmedizin
city: Como
country: Italy
facility: UOC Pediatria
city: Genova
country: Italy
facility: Maternal and Child Health - University of Genova
city: Roma
country: Italy
facility: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
city: Madrid
country: Spain
facility: Hospital Universitario La Paz
city: Murcia
country: Spain
facility: Hospital Clínico Universitario Virgen de la Arrixaca
city: Málaga
country: Spain
facility: Se ubica en los siguientes centros, Hospital Universitario Virgen de la Victoria
city: Sevilla
country: Spain
facility: Unidad de Dismorfología y metabolismo Hospital Universitario Virgen del Rocío
city: Solna
country: Sweden
facility: Karolinska Hospital
Study officials:
affiliation: BioMarin Pharmaceutical
name: Medical Director
role: STUDY_DIRECTOR
References: