Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? (MorqPreg)

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.

Study Overview

• Status: Completed
• Conditions: MPS - Mucopolysaccharidosis; Morquio Disease
• Intervention / Treatment: Other: Interview

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.

• Study Type: Observational
• Enrollment (Actual): 18

Contacts and Locations

Study Locations

• United States
  • Georgia
    • Decatur, Georgia, United States, 30033
      • Emory University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 15 years to 100 years (ADULT, OLDER_ADULT, CHILD)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

Women with Morquio syndrome, at least 15 years of age, English-speaking

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Morquio A / Biological Mothers; Women with Morquio A who have biological children	Other: Interview; In-person or telephone in-depth interview
Morquio A / No Biological Children; Women with Morquio A who do not have biological children (both adoptive mothers and non-mothers)	Other: Interview; In-person or telephone in-depth interview
Morquio B / Biological Mothers; Women with Morquio B who have biological children	Other: Interview; In-person or telephone in-depth interview
Morquio B / No Biological Children; Women with Morquio B who do not have biological children (both adoptive mothers and non-mothers)	Other: Interview; In-person or telephone in-depth interview

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Completion of in-depth interview	Completion of in-depth interview	Approximately 1 hour

Collaborators and Investigators

• Sponsor: Emory University
• Collaborators: BioMarin Pharmaceutical

Study record dates

Study Major Dates

• Study Start (Actual): May 10, 2017
• Primary Completion (Actual): August 17, 2018
• Study Completion (Actual): August 17, 2018

Study Registration Dates

• First Submitted: May 10, 2017
• First Submitted That Met QC Criteria: May 10, 2017
• First Posted (Actual): May 11, 2017

Study Record Updates

• Last Update Posted (Actual): January 20, 2021
• Last Update Submitted That Met QC Criteria: January 15, 2021
• Last Verified: January 1, 2021

More Information

Terms related to this study

• Keywords: Pregnancy
• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Connective Tissue Diseases; Bone Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Bone Diseases, Developmental; Mucopolysaccharidoses; Osteochondrodysplasias; Mucopolysaccharidosis IV
• Other Study ID Numbers: IRB00088777

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No