Psychological Concomitants of Morquio Syndrome (The MAP Study)

Sponsor

Nadia Ali, PhD (Other)

Overall Status

Completed

CT.gov ID

NCT01752296

Collaborator

BioMarin Pharmaceutical (Industry)

Enrollment

Location

Duration (Months)

1.3

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Morquio Disease Mucopolysaccharidosis IV

Study Design

Study Type:

Observational

Actual Enrollment :

20 participants

Observational Model:

Case-Only

Time Perspective:

Cross-Sectional

Official Title:

Psychological Concomitants of Morquio Syndrome

Study Start Date :

Jul 1, 2012

Actual Primary Completion Date :

Oct 1, 2013

Actual Study Completion Date :

Oct 1, 2013

Outcome Measures

Primary Outcome Measures

ASEBA Self-Report [At enrollment, as a single-timepoint only]
Self-report questionnaire assessing psychological and adaptive functioning well-being

Secondary Outcome Measures

Brief Pain Inventory [At enrollment, as a single-timepoint only]
Self-report measure of subjective pain levels and interference of pain in daily functioning
SF-36 [At enrollment, as a single-timepoint only]
Brief self-report measure of quality of life

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

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.

Exclusion Criteria:

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