BioMarin starts LIAISE study on achondroplasia

In November 2017, BioMarin shared an update for Associations and Families on achondroplasia

clinical development program. The recruitment for this study was published on the 28th February 2018, all information is available at and the first site to open and recruiting is in Germany, at the Medizinische Fakultät, Universitätskinderklinik (KPAE). 

As BioMarin informed on the clinical development program, most of the studies performed in the past have only looked at children living with achondroplasia, however, BioMarin believes it is important to understand the lifetime impact of the condition. For this reason, the company structured the Lifetime Impact of Achondroplasia Study in Europe (LIAISE), study 111-501, that is an 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 the general population:

  • Quality of life
  • Clinical burden
  • Healthcare resource use
  • Socio-economic burden
  • Psychosocial burden

Up to 300 patients will be included in sites in Germany, Spain, Italy, Sweden, and Denmark, and it will be conducted at up to approximately 20 sites or clinical centers.

Patients 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 a 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.


About the collected data

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 into 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 Quality of life, 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.

We look forward to having a report and results published by BioMarin, once this study can highlight important issues related to living with achondroplasia.