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Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy (The MAPLE Study) (MAPLE)

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.
 
ClinicalTrials.gov Identifier: NCT02208661
Recruitment Status : Completed
First Posted : August 5, 2014
Last Update Posted : April 11, 2018
Sponsor:
Collaborator:
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 Morquio, has primarily focused on the physical aspects of the various diseases. Less attention has been paid to the psychological toll of these diseases, whether they are direct symptoms or reactions to living with a chronic progressive disease.

Prior to 2013, there was neither a cure nor treatment (other than palliative) for Morquio disease. In the latter half of 2013, ERT became available to the broader population of patients with Morquio A disease through BioMarin's Expanded Access Program.

In a previous study, entitled "Psychological Concomitants of Morquio syndrome" the present investigator enrolled 20 adult subjects with Morquio into a pilot study to estimate a baseline incidence of psychological symptoms and overall quality of life. Subjects were all over the age of 18. Data from this study were published in 2015.

The present study extends this research into psychological health with Morquio via a comparison of psychological issues and quality of life before and after treatment (i.e. ERT). As ERT does not cross the blood-brain barrier, it would be unlikely to improve organic psychological symptoms, but may improve any reactive psychological symptoms caused by living over time with this chronic progressive genetic disease.

The present study thus seeks to follow adult patients with Morquio A disease as they begin ERT and track their psychological health every 6 months for a duration of 2 years. Adult patients with Morquio disease are invited to participate. Subjects will complete three different self-report questionnaires, the Achenbach System of Empirically Based Assessment (ASEBA) Adult Self-Report (ASR), the Short Form 36-item Health Questionnaire (SF-36), and the Brief Pain Inventory (BPI). Group aggregate data 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.


Condition or disease
Morquio A Syndrome Mucopolysaccharidosis IV A

Detailed Description:

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.

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Study Type : Observational
Actual Enrollment : 12 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy
Study Start Date : March 2014
Actual Primary Completion Date : March 2018
Actual Study Completion Date : March 2018





Primary Outcome Measures :
  1. ASEBA Self-Report [ Time Frame: Every 6 months for 2 years ]
    Self-report questionnaire assessing psychological and adaptive functioning


Secondary Outcome Measures :
  1. Brief Pain Inventory [ Time Frame: Every 6 months for 2 years ]
    Self-report measure of subjective pain levels and interference of pain in daily functioning

  2. SF-36 [ Time Frame: Every 6 months for 2 years ]
    Brief self-report measure of quality of life



Information from the National Library of Medicine

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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
Adults with Morquio A syndrome
Criteria

Inclusion Criteria:

  1. Documented clinical diagnosis of MPS IVA based on clinical signs and symptoms of MPS IVA and documented reduced fibroblast or leukocyte GALNS enzyme activity or genetic testing confirming diagnosis of MPS IVA.
  2. Subject is at least 18 years old.
  3. Subject must provide informed consent prior to study participation.
  4. Subject was a participant in the MAP study (Phase I) and is now receiving (or plans to receive in the near future) enzyme replacement therapy in the EAP or commercial setting. If receiving ERT for the treatment of Morquio A syndrome, subject has been on treatment for less than 1 year.

    -or-

  5. Subject was not enrolled in the MAP study, but plans to start receiving ERT for Morquio A syndrome in the near future and is willing to take all baseline questionnaires which were included in MAP, prior to beginning ERT for Morquio A syndrome .

Exclusion Criteria:

  • 1. Previous treatment with ERT prior to participation in phase 1(MAP).

    2. Previous hematopoietic stem-cell transplant

    3. Patient has a clinically significant disease (with the exception of symptoms of Morquio A syndrome), including clinically significant cardiovascular, hepatic, 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 A syndrome upon study variables.

    4. Any condition that, in the view of the Investigator, places the patient at high risk of poor compliance or of not completing the study.


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 ClinicalTrials.gov identifier (NCT number): NCT02208661


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

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Responsible Party: Nadia Ali, PhD, Health Psychologist, Emory University
ClinicalTrials.gov Identifier: NCT02208661    
Other Study ID Numbers: IRB00072780
First Posted: August 5, 2014    Key Record Dates
Last Update Posted: April 11, 2018
Last Verified: April 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: There is no plan to share IPD with other researchers
Keywords provided by Nadia Ali, PhD, Emory University:
Morquio A syndrome
Mucopolysaccharidosis IV A
Psychological health
Additional relevant MeSH terms:
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Osteochondrodysplasias
Mucopolysaccharidoses
Mucopolysaccharidosis IV
Syndrome
Disease
Pathologic Processes
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases