Lifetime Impact of Achondroplasia Study in Europe-LIAISE

NCT03449368 | Completed

• 1 other identifier: 111-501
• Study Type: observational
• Target: 196
• Locations: 6 countries
• Sites: 13

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

Conditions

Achondroplasia

Outcome Measures

Primary Outcomes (1)

• 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

  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 (8)

• Socio-economic burden (educational, personal, employment and financial impact)

  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)

  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)

  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

• Pediatric Quality of Life Inventory (PedsQL)

  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

• Quality of Life Short Stature Youth (QoLiSSY) Questionnaire

  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 (3)

• Measurement of Height

  Retrospective data will be collected for 5 years prior to date of enrolment

• Measurement of Weight Body Mass Index

  Retrospective data will be collected for 5 years prior to date of enrolment

• Body Mass Index (BMI)

  Retrospective data will be collected for 5 years prior to date of enrolment

Study Arms (7)

Cohort 1

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

Cohort 2

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

Cohort 3

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

Cohort 4

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

Cohort 5

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

Cohort 6

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

Cohort 7

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

Eligibility Criteria

• Age: 5 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Individuals with a documented diagnosis of achondroplasia based on:
• Genetic confirmation of achondroplasia and/or
• Clinical diagnosis of achondroplasia (clinical examination or radiological assessment)
• ≥ five years of age at the time of enrolment
• 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)
• Agrees to participate in the study and has read, understood, completed and signed:
• Informed Consent Form (ICF) - for adult subjects
• 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.
• Has medical records available for at least the five years prior to the date of enrolment.

You may not qualify if:

• Currently participating, or participated within the last six months, in
• a clinical trial of a medicinal product or medical device or,
• other non-clinical, low interventional studies
• Currently participating or participated in any BioMarin study at any time.

Sponsors & Collaborators

• BioMarin Pharmaceutical: lead

Study Sites (13)

Medizinische Universitat Wien

Vienna, Austria

Location

Aarhus Universitetshospital

Aarhus, Denmark

Location

Klinik für Kinder- und Jugendmedizin

Cologne, Germany

Location

Medizinische Fakultät, Universitätskinderklinik (KPAE)

Magdeburg, 44 39120, Germany

Location

Universitätsmedizin

Mainz, Germany

Location

UOC Pediatria

Como, Italy

Location

Maternal and Child Health - University of Genova

Genova, Italy

Location

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Roma, Italy

Location

Hospital Universitario La Paz

Madrid, Spain

Location

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

Málaga, Spain

Location

Hospital Clínico Universitario Virgen de la Arrixaca

Murcia, Spain

Location

Unidad de Dismorfología y metabolismo Hospital Universitario Virgen del Rocío

Seville, Spain

Location

Karolinska Hospital

Solna, Sweden

Location

Related Publications (1)

• 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.

  PMID: 36922864 DERIVED

MeSH Terms

Conditions

Achondroplasia

Condition Hierarchy (Ancestors)

Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Osteochondrodysplasias; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Medical Director

  BioMarin Pharmaceutical

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 14, 2017
• First Posted: February 28, 2018
• Study Start: December 17, 2017
• Primary Completion: April 29, 2020
• Study Completion: April 29, 2020
• Last Updated: April 5, 2021

Record last verified: 2020-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: CSR
• Time Frame: August 2020

Locations

AU (1); DE (3); IT (3); ES (4); DK (1); SE (1)