Lifetime Impact of Achondroplasia Study in Europe-LIAISE

NCT ID: NCT03449368

Last Updated: 2021-04-05

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 196 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2017-12-17
• Study Completion Date: 2020-04-29

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.

Conditions

Achondroplasia

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

Study Groups

Cohort 1

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

No interventions assigned to this group

Cohort 2

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

No interventions assigned to this group

Cohort 3

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

No interventions assigned to this group

Cohort 4

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

No interventions assigned to this group

Cohort 5

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

No interventions assigned to this group

Cohort 6

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

No interventions assigned to this group

Cohort 7

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

No interventions assigned to this group

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.

• Minimum Eligible Age: 5 Years
• Maximum Eligible Age: 70 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

BioMarin Pharmaceutical

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Medical Director

Role: STUDY_DIRECTOR

BioMarin Pharmaceutical

Locations

Medizinische Universitat Wien

Vienna, , Austria

Aarhus Universitetshospital

Aarhus, , Denmark

Klinik für Kinder- und Jugendmedizin

Cologne, , Germany

Medizinische Fakultät, Universitätskinderklinik (KPAE)

Magdeburg, , Germany

Universitätsmedizin

Mainz, , Germany

UOC Pediatria

Como, , Italy

Maternal and Child Health - University of Genova

Genova, , Italy

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Roma, , Italy

Hospital Universitario La Paz

Madrid, , Spain

Se ubica en los siguientes centros, Hospital Universitario Virgen de la Victoria

Málaga, , Spain

Hospital Clínico Universitario Virgen de la Arrixaca

Murcia, , Spain

Unidad de Dismorfología y metabolismo Hospital Universitario Virgen del Rocío

Seville, , Spain

Karolinska Hospital

Solna, , Sweden

Countries

Austria; Denmark; Germany; Italy; Spain; Sweden

References

Maghnie M, Semler O, Guillen-Navarro E, Selicorni A, Heath KE, Haeusler G, Hagenas L, Merker A, Leiva-Gea A, Gonzalez VL, Raimann A, Rehberg M, Santos-Simarro F, Ertl DA, Gregersen PA, Onesimo R, Landfeldt E, Jarrett J, Quinn J, Rowell R, Pimenta J, Cohen S, Butt T, Shediac R, Mukherjee S, Mohnike K. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study. Orphanet J Rare Dis. 2023 Mar 15;18(1):56. doi: 10.1186/s13023-023-02652-2.

Reference Type: DERIVED

PMID: 36922864 (View on PubMed)

Other Identifiers

111-501

Identifier Type: -

Identifier Source: org_study_id