Lifetime Impact of Achondroplasia Study in Europe-LIAISE

BioMarin Pharmaceutical196 enrolled

Overview

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

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.

Study Type

OBSERVATIONAL

Enrollment

196

Conditions

Achondroplasia

Eligibility

Sex: ALLMin age: 5 YearsMax age: 70 Years

Medical Language ↔ Plain English

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.

Locations (13)

Medizinische Universitat Wien

Vienna, Austria

Aarhus Universitetshospital

Aarhus, Denmark

Klinik für Kinder- und Jugendmedizin

Cologne, Germany

Outcomes

Primary Outcomes

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

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

Secondary Outcomes

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)

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)

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.

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)

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

Data from ClinicalTrials.gov

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