1. To include the patients* point of view in the characterization and description of the mucopolysaccharidoses; and to compare between the different types of mucopolysaccharidoses.2. To assess *health damage* at the moment of diagnosis, in order to…
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
- Inborn errors of metabolism
- Musculoskeletal and connective tissue disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The results of the Mucopolysaccharidosis Questionnaire will be used to describe
the natural course of MPS, the current clinical outcome, the health damage at
diagnosis and the effect of treatment. The scores obtained from the
standardized questionnaires will be used to measure the consequences of MPS
disease on daily activities, quality of life, development and pain and to
evaluate. the effects of treatment options.
Secondary outcome
not applicable
Background summary
The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, all
caused by the deficiency of a specific enzyme required for the stepwise
degradation of glycosaminoglycans (GAGs), also known as mucopolysaccharides.
The clinical features of these mucopolysaccharidoses are to a large extent
comparable, although there are differences in the level of involvement of the
different organ systems. In all MPS there is a chronic and progressive clinical
course leading ultimately to premature death. Different treatment options
(enzyme replacement therapy and haemopoietic stem cell therapy) are available
for several MPS. The current protocol describes a patient oriented
Mucopolysaccharidosis Survey which gathers information on clinical course and
quality of life directly from patients themselves by means of questionnaires..
The project is a joint initiative of the Erasmus MC Center for Lysosomal and
Metabolic Diseases and the patient organization for adults and children with
metabolic disorders (VKS).
Study objective
1. To include the patients* point of view in the characterization and
description of the mucopolysaccharidoses; and to compare between the different
types of mucopolysaccharidoses.
2. To assess *health damage* at the moment of diagnosis, in order to estimate
to what extent patients could benefit from early diagnosis via newborn
screening and early treatment;
3. To include the patients* point of view in the evaluation of the long-term
effects of available treatment options and support measures including enzyme
replacement therapy and haemopietic stem cell therapy.
Study design
Longitudinal observational study
Study burden and risks
There are no risks involved in this study. The patient and/or the parents of
the patients fill in a maximum of five questionnaires once a year. This will
take approximately 1* hour of their time.
Dr. Molewaterplein 60
3015 GJ
NL
Dr. Molewaterplein 60
3015 GJ
NL
Listed location countries
Age
Inclusion criteria
All patients (all ages) who have signed the VKS / Mucopolysaccharidosis Survey patient information and authorization form and have a confirmed diagnosis of mucopolysaccharidosis are eligible for inclusion.
Exclusion criteria
none
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL29695.078.10 |