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Psychological Concomitants of Morquio Syndrome (The MAP Study) (MAP)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01752296
Recruitment Status : Completed
First Posted : December 19, 2012
Last Update Posted : December 4, 2013
BioMarin Pharmaceutical
Information provided by (Responsible Party):
Nadia Ali, PhD, Emory University

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
Morquio Disease Mucopolysaccharidosis IV

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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 : July 2012
Actual Primary Completion Date : October 2013
Actual Study Completion Date : October 2013

Primary Outcome Measures :
  1. ASEBA Self-Report [ Time Frame: At enrollment, as a single-timepoint only ]
    Self-report questionnaire assessing psychological and adaptive functioning well-being

Secondary Outcome Measures :
  1. Brief Pain Inventory [ Time Frame: At enrollment, as a single-timepoint only ]
    Self-report measure of subjective pain levels and interference of pain in daily functioning

  2. SF-36 [ Time Frame: At enrollment, as a single-timepoint only ]
    Brief self-report measure of quality of life

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
People with Morquio Disease

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01752296

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United States, Georgia
Emory University
Decatur, Georgia, United States, 30033
Sponsors and Collaborators
Nadia Ali, PhD
BioMarin Pharmaceutical
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Principal Investigator: Nadia Ali, Ph.D. Emory University

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Responsible Party: Nadia Ali, PhD, Health Psychologist / Instructor, Emory University Identifier: NCT01752296    
Other Study ID Numbers: IRB00058524
BioMarin-1 ( Other Identifier: Other )
First Posted: December 19, 2012    Key Record Dates
Last Update Posted: December 4, 2013
Last Verified: December 2013
Keywords provided by Nadia Ali, PhD, Emory University:
Mucopolysaccharidosis IV
Psychological health
Additional relevant MeSH terms:
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Mucopolysaccharidosis IV
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases