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

NCT03150069 | Completed DMC

• 1 other identifier: IRB00088777
• Study Type: observational
• Target: 18
• Locations: 1 country
• Sites: 1

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.

Conditions

Morquio Disease; MPS - Mucopolysaccharidosis

Keywords

Pregnancy

Outcome Measures

Primary Outcomes (1)

• Completion of in-depth interview

  Completion of in-depth interview

  Approximately 1 hour

Study Arms (4)

Morquio A / Biological Mothers

Women with Morquio A who have biological children

Other: Interview

Morquio A / No Biological Children

Women with Morquio A who do not have biological children (both adoptive mothers and non-mothers)

Other: Interview

Morquio B / Biological Mothers

Women with Morquio B who have biological children

Other: Interview

Morquio B / No Biological Children

Women with Morquio B who do not have biological children (both adoptive mothers and non-mothers)

Other: Interview

Interventions

Interview OTHER

In-person or telephone in-depth interview

Morquio A / Biological Mothers; Morquio A / No Biological Children; Morquio B / Biological Mothers; Morquio B / No Biological Children

Eligibility Criteria

• Age: 15 Years - 100 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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.
• Subject is at least 15 years old.
• Subject is female.
• Subject is fluent enough in English to complete in-depth interview with PI.

You may not qualify if:

• Patient has a clinically significant disease other than Morquio which would confound the effects of Morquio upon study variables.
• Any condition that, in the view of the Investigator, places the patient at high risk of poor compliance or of not completing the study.

Sponsors & Collaborators

• Emory University: lead
• BioMarin Pharmaceutical: collaborator

Study Sites (1)

Emory University

Decatur, Georgia, 30033, United States

Location

MeSH Terms

Conditions

Mucopolysaccharidosis IV; Mucopolysaccharidoses

Interventions

Interviews as Topic

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: May 10, 2017
• First Posted: May 11, 2017
• Study Start: May 10, 2017
• Primary Completion: August 17, 2018
• Study Completion: August 17, 2018
• Last Updated: January 20, 2021

Record last verified: 2021-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)