NCT03872531

Brief Summary

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.

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
173

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Mar 2019

Geographic Reach
3 countries

4 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 16, 2019

Completed
2 months until next milestone

First Posted

Study publicly available on registry

March 13, 2019

Completed
18 days until next milestone

Study Start

First participant enrolled

March 31, 2019

Completed
1.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 6, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 6, 2021

Completed
Last Updated

April 5, 2021

Status Verified

March 1, 2021

Enrollment Period

1.9 years

First QC Date

January 16, 2019

Last Update Submit

April 2, 2021

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 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 end of study with the final Clinical Study Report, May 2020

Secondary Outcomes (10)

  • Socio-economic burden

    Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 2020

  • Pediatric Functional Independence Measure (WeeFIM)

    Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 2020

  • Adolescent Pediatric Pain Tool (APPT)

    Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 2020

  • Pediatric Quality of Life Inventory (PedsQL)

    Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 2020

  • Quality of Life Short Stature Youth (QoLiSSY) Questionnaire

    Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 2020

  • +5 more secondary outcomes

Other Outcomes (9)

  • Measurement of Height

    Retrospective data will be collected for 3 years prior to date of enrolment

  • Measurement of Weight

    Retrospective data will be collected for 3 years prior to date of enrolment

  • Body Mass Index (BMI)

    Retrospective data will be collected for 3 years prior to date of enrolment

  • +6 more other outcomes

Study Arms (7)

Cohort 1

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

Cohort 2

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

Cohort 3

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

Cohort 4

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

Cohort 5

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

Cohort 6

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

Cohort 7

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

Eligibility Criteria

Age3 Years - 100 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Individuals with a diagnosis of Achondroplasia aged 3 years or older in Argentina, Brazil and Colombia

You may qualify if:

  • Individual with a documented diagnosis of achondroplasia based on:
  • Genetic confirmation of achondroplasia and/or
  • Clinical diagnosis of achondroplasia (clinical examination and/or radiological assessment)
  • ≥ three years of age at the time of enrollment
  • 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 the three years prior to the date of enrollment.

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Hospital de Pediatría "Prof. Dr. Juan P. Garrahan"

Buenos Aires, Argentina

Location

Instituto Nacional Fernandes Figueira (IFF), Fundacao Osvaldo Cruz

Rio de Janeiro, Brazil

Location

Centro de Pesquisa Clínica do Instituto da Criança HC - FMUSP

São Paulo, Brazil

Location

Fundacion Cardioinfantil-instituto de cardiologia

Bogotá, Colombia

Location

MeSH Terms

Conditions

Achondroplasia

Condition Hierarchy (Ancestors)

DwarfismBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesOsteochondrodysplasiasGenetic Diseases, InbornCongenital, 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

January 16, 2019

First Posted

March 13, 2019

Study Start

March 31, 2019

Primary Completion

February 6, 2021

Study Completion

February 6, 2021

Last Updated

April 5, 2021

Record last verified: 2021-03

Locations

CO(1)AR(1)BR(2)