Psychological Concomitants of Morquio Syndrome (The MAP Study)

NCT01752296 | Completed DMC

• 2 other identifiers: IRB00058524BioMarin-1
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

Mucopolysaccharidosis IV, also known as MPS IV or Morquio disease, is a rare autosomal recessive genetic lysosomal storage disorder. Research thus far regarding lysosomal storage diseases (LSDs) in general, including Morquio, has primarily focused on exploring the causes of and finding a treatment for the physical aspects of the various diseases. Less attention has been paid to the psychological or emotional toll of these diseases, whether they are direct symptoms of the diseases themselves or reactions to living with a chronic progressive disease. It is well established in the health psychology literature, however, that the interaction between our physical health and our psychological health is bidirectional; that is, just as our physical health affects us emotionally (e.g. chronic pain can contribute to depression), so can our psychological health affect us physically (e.g. anxiety can contribute to feelings of chest pain). It is thus critically important to pay attention to the emotional and psychological symptoms associated with all lysosomal storage diseases, including Morquio, and expand our treatment standard of care to include mental health treatment, if necessary. The first step in understanding and treating psychological conditions in Morquio disease is determining the natural occurrence of psychological symptoms in this population in comparison with non-medical populations. As little has been done in this regard, a pilot study documenting the occurrence rate of psychological issues and overall quality of life in patients with Morquio is the first item in order and will be the focus of this study. Approximately 20 patients with Morquio disease will be invited to participate, recruited through Emory's Lysosomal Storage Disease Center, as well as through attendance at Morquio support groups and relevant regional, national and/or international meetings. Once consented, patients will be asked to complete three different self-report questionnaires, including the Achenbach System of Empirically Based Assessment (ASEBA) Adult Self-Report (ASR) or Older Adult Self-Report (OASR) questionnaire, the Short Form 36-item Health Questionnaire (SF-36), and the Brief Pain Inventory (BPI). Group aggregate data only will be reported; individual questionnaire content and results will be held confidential, except as in accordance with Georgia law relating to reporting of child or elder abuse, suicidal and/or homicidal intent. Completion of these questionnaires will complete subjects' participation in this pilot study.

Conditions

Morquio Disease; Mucopolysaccharidosis IV

Keywords

Morquio; Mucopolysaccharidosis IV; Psychological health

Outcome Measures

Primary Outcomes (1)

• ASEBA Self-Report

  Self-report questionnaire assessing psychological and adaptive functioning well-being

  At enrollment, as a single-timepoint only

Secondary Outcomes (2)

• Brief Pain Inventory

  At enrollment, as a single-timepoint only

• SF-36

  At enrollment, as a single-timepoint only

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

People with Morquio Disease

You may qualify if:

• Documented clinical diagnosis of MPS IV based on clinical signs and symptoms of MPS IV and documented reduced fibroblast or leukocyte GALNS enzyme activity or genetic testing confirming diagnosis of MPS IV.
• Patient is at least 18 years old.
• Patient is not currently receiving enzyme replacement therapy for MPS IV.
• Patient must provide written, informed consent prior to study participation.

You may not qualify if:

• Previous treatment with ERT
• Previous hematopoietic stem-cell transplant
• Patient has a clinically significant disease (with the exception of symptoms of Morquio), including clinically significant immunologic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstances that, in the opinion of the investigator, would confound the effects of Morquio upon study variables

Sponsors & Collaborators

• Nadia Ali, PhD: lead
• BioMarin Pharmaceutical: collaborator

Study Sites (1)

Emory University

Decatur, Georgia, 30033, United States

Location

MeSH Terms

Conditions

Mucopolysaccharidosis IV; Psychological Well-Being

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; 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; Personal Satisfaction; Behavior

Study Officials

• Nadia Ali, Ph.D.

  Emory University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Health Psychologist / Instructor

Study Record Dates

• First Submitted: December 13, 2012
• First Posted: December 19, 2012
• Study Start: July 1, 2012
• Primary Completion: October 1, 2013
• Study Completion: October 1, 2013
• Last Updated: December 4, 2013

Record last verified: 2013-12

Locations

US (1)