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

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.

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.