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

Lifetime Impact of Achondroplasia Study in Europe-LIAISE

Achondroplasia

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.

The Impact of Achondroplasia on Quality of Life, Healthcare Resource Use, Clinical, Socio-economic and Psychosocial State of the Individual.

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

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)

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 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

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.

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.

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.

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

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.

Includes age group 5-10 with a cap at 50 subjects. This is a retrospective, observational
study.

Includes age group 11-15 with a cap of 50 subjects. This is a retrospective,
observational study.

Includes age group 16-20 with a cap of 40 subjects. This is a retrospective,
observational study.

Includes age group 21-30 with a cap of 40 subjects. This is a retrospective,
observational study.

Includes age group 31-40 with a cap at 40 subjects. This is a retrospective,
observational study.

Includes age group 41-50 with a cap at 40 subjects. This is a retrospective,
observational study.

Includes age group 51-70 with a cap at 40 subjects. This is a retrospective,
observational study.

Lifetime Impact of Achondroplasia Study in Europe-LIAISE

About this trial

Study ID

Status

Type

Placebo

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Trial Timing

What is this trial about?

What are the participation requirements?

Locations

Location

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