Psychological Concomitants of Morquio Syndrome (The MAP Study)

Morquio Disease Clinical Trial

— MAP  

Official title:

Psychological Concomitants of Morquio Syndrome

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01752296
• Other study ID #: IRB00058524
• Secondary ID: BioMarin-1
• Status: Completed
• Phase: N/A
• First received: December 13, 2012
• Last updated: December 2, 2013
• Start date: July 2012
• Est. completion date: October 2013

Study information

• Verified date: December 2013
• Source: Emory University
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Data and Safety Monitoring Board
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 20
• Est. completion date: October 2013
• Est. primary completion date: October 2013
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

1. 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.

2. Patient is at least 18 years old.

3. Patient is not currently receiving enzyme replacement therapy for MPS IV.

4. Patient must provide written, informed consent prior to study participation.

Exclusion Criteria:

1. Previous treatment with ERT

2. Previous hematopoietic stem-cell transplant

3. 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

Study Design

Observational Model: Case-Only, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Morquio Disease
• Mucopolysaccharidoses
• Mucopolysaccharidosis IV

Locations

Country	Name	City	State
United States	Emory University	Decatur	Georgia

Sponsors (2)

Lead Sponsor	Collaborator
Nadia Ali, PhD	BioMarin Pharmaceutical

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	ASEBA Self-Report	Self-report questionnaire assessing psychological and adaptive functioning well-being	At enrollment, as a single-timepoint only	No
Secondary	Brief Pain Inventory	Self-report measure of subjective pain levels and interference of pain in daily functioning	At enrollment, as a single-timepoint only	No
Secondary	SF-36	Brief self-report measure of quality of life	At enrollment, as a single-timepoint only	No