Lifetime Impact Study for Achondroplasia (LISA)

BioMarin Pharmaceutical

Status: Completed

Conditions: Achondroplasia

Study type: Observational

Funder types: Industry

Identifiers

NCT03872531

111-502

Details and patient eligibility

About

Observational study looking at the burden of illness in achondroplasia subjects aged 3 and above. The study will include a 3 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 175 subjects will be enrolled in sites in Argentina, Colombia and Brazil.

Full 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 4 sites in Latin American Countries - Brazil, Argentina and Colombia.

Subjects will be identified for participation in the study via three routes:

1. During routine hospital visits
2. From clinic 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 distributed to potential subjects.

Data will be collected over a minimum of the three 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, mobility, psychosocial burden, socio-economic 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.

Subject participation onto the study will be voluntary, without financial support to the subject.

Enrollment: 173 patients

Sex: All

Ages: 3 to 100 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Individual with a documented diagnosis of achondroplasia based on:

   1. Genetic confirmation of achondroplasia and/or
   2. Clinical diagnosis of achondroplasia (clinical examination and/or radiological assessment)

2. ≥ three years of age at the time of enrollment

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 the three years prior to the date of enrollment.

Exclusion criteria

1. Currently participating, or participated in the last six months, in

   1. a clinical trial of a medicinal product or medical device or
   2. other non-clinical or low interventional studies

2. Currently participating or has participated in any BioMarin study at any time.

Trial design

173 participants in 7 patient groups

Cohort 1

Description:

Includes age group 3-5 with a cap at 20 subjects. This is a retrospective, observational study

Cohort 2

Description:

Includes age group 6-10 with a cap at 30 subjects. This is a retrospective, observational study

Cohort 3

Description:

Includes age group 11-15 with a cap of 30 subjects. This is a retrospective, observational study

Cohort 4

Description:

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

Cohort 5

Description:

Includes age group 21-30 with a cap at 20 subjects. This is a retrospective, observational study

Cohort 6

Description:

Includes age group 31-40 with a cap at 20 subjects. This is a retrospective, observational study

Cohort 7

Description:

Includes age group 41 and over with a cap at 35 subjects. This is a retrospective, observational study