Morquio Disease, MPS - Mucopolysaccharidosis
Conditions
Keywords
Pregnancy
Brief summary
The present study seeks to interview women with Morquio A and Morquio B syndrome, to explore their concerns surrounding pregnancy and the impact of ERT on their perspectives, in comparison with the control group of Morquio B subjects for whom no ERT treatment exists. Interviews will be conducted by a health psychologist, in-person or over the telephone. Data will be analyzed using MAXQDA 12.0 software and Grounded Theory. Differences in thematic trends between Morquio A subjects, for whom treatment exists, and a control group of Morquio B subjects, for whom there is no treatment, will be compared.
Detailed description
The present study seeks to interview women with Morquio A and Morquio B syndrome themselves, to explore and discover their perspectives and concerns surrounding pregnancy and having biological children, the impact of the advent of ERT for Morquio A on their perspectives and concerns in comparison with the control group of Morquio B subjects for whom no ERT treatment exists, as well as what each group is being told by the medical community and others in their lives in this regard. Interviews will be conducted by a health psychologist, either in-person or over the telephone. We will interview 1) those women with Morquio syndrome who are known to have been pregnant and 2) those women with Morquio syndrome who have not been pregnant and/or chose to adopt children. All information will be kept confidential, except as in accordance with Georgia law relating to reporting of child or elder abuse, suicidal and/or homicidal intent. Data will be analyzed using MAXQDA 12.0 software to develop code which can be used to describe and compare the data using Grounded Theory. Differences in thematic trends between Morquio A subjects, for whom treatment exists, and a control group of Morquio B subjects, for whom there is no treatment, will be compared.
Interventions
OTHERInterview
In-person or telephone in-depth interview
Sponsors
BioMarin Pharmaceutical
Emory University
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
FEMALE
Age
15 Years to 100 Years
Healthy volunteers
Yes
Inclusion criteria
1. Documented clinical diagnosis of either MPS IVA or MPS IVB, based on clinical signs and symptoms, documented reduced fibroblast or leukocyte GALNS enzyme activity or genetic testing confirming diagnosis. 2. Subject is at least 15 years old. 3. Subject is female. 4. Subject is fluent enough in English to complete in-depth interview with PI.
Exclusion criteria
1. Patient has a clinically significant disease other than Morquio which would confound the effects of Morquio upon study variables. 2. Any condition that, in the view of the Investigator, places the patient at high risk of poor compliance or of not completing the study.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Completion of in-depth interview | Approximately 1 hour | Completion of in-depth interview |
Countries
United States
Outcome results
None listed