Primary objective:To determine the prevalence of unrecognized mucopolysaccharidosis (MPS) I (Hurler, Hurler-Scheie, or Scheie syndromes), II (Hunter syndrome), IVA (Morquio syndrome), and VI (Maroteaux-Lamy syndrome) patients among a population of…
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
- Inborn errors of metabolism
- Joint disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Prevalence rate (number of new diagnosed cases among the total enrolled
patients) of MPS I, II, IVA, and VI in pediatric population treated in
pediatric rheumatology clinics.
Secondary outcome
- JADAS-27 score: Active Joint Count + Patient Global Evaluation +
Physician Global Assessment + Erythrocyte Sedimentation Rate
- Duration of morning stiffness
Background summary
Because of the overlap of symptoms, MPS disorders are often misdiagnosed as
juvenile idiopathic arthritis (JIA). Patients with MPS disorders lack the
enzymes necessary to metabolize glycosaminoglycans (GAGs). GAGs then accumulate
in organs, which can lead to extensive damage to multiple organ systems and
potentially life-threatening conditions. When a MPS disorder is undiagnosed for
years, irreparable damage has often occurred. Prompt recognition is the key to
early initiation of therapy, which is closely linked to the prognosis and
outcome. Enzyme replacement therapies are available for MPS I, II, and VI (and
in development for MPS IV).
The goal of this investigation is to determine how often children with
unrecognized MPS I, II,
IVA, and VI are presenting in experienced pediatric rheumatology practices.
Appropriate screening to determine the true prevalence of such presentation is
an important first step in developing an educational program for physicians in
such clinics to facilitate the recognition and appropriate referral of patients
with MPS disorders.
Study objective
Primary objective:
To determine the prevalence of unrecognized mucopolysaccharidosis (MPS) I
(Hurler, Hurler-Scheie, or Scheie syndromes), II (Hunter syndrome), IVA
(Morquio syndrome), and VI (Maroteaux-Lamy syndrome) patients among a
population of pediatric rheumatology patients with low inflammatory
markers (ESR and or CRP) using the dried blood spot (DBS) testing to screen for
MPS.
Secondary objective:
To study the pattern of Joint involvement in Juvenile Idiopathic Arthritis
(JIA) patients.
Study design
International Multicenter study, Non-interventional
Study burden and risks
Risks and burdens related to blood collection
Kampenringweg 45E
Gouda 2803 PE
NL
Kampenringweg 45E
Gouda 2803 PE
NL
Listed location countries
Age
Inclusion criteria
- Male or female juvenile idiopathic arthritis patients, between 6 months and 18 years of age, inclusive.
- History of JIA documented at an experienced pediatric rheumatology clinic. All JIA subtypes can be included if patients have at least 1 low ESR (*20 mm/Hr) and/or CRP (*10 mg/L) value measured at a preceding visit (timelines of the precedent visit is defined as per the patient standard of care) or at the study visit, and assessed as being independent from concomitant anti-inflammatory/anti-infective treatments at the discretion of the investigator.
- Signed informed consent/assent obtained from patient and patient*s legal representative (parents or guardians) according to local regulations.
Exclusion criteria
- Patients for whom MPS enzyme activity tests (ie, enzyme levels tested in fibroblasts, leukocytes, serum, or blood spots) have already been performed and for which the result was normal. (Patients who have been screened for MPS through urinary GAG and tested normal may be included in the study).
- Patients with at least 1 high ESR (>20 mm/Hr) and/or CRP (>10 mg/L) value measured at a preceding visit or at the study visit, not related to an identified concomitant infection or intercurrent illness at the discretion of the investigator.
- Patient has any medical condition or extenuating circumstance which, in the opinion of the Investigator, could interfere with the patient*s ability to complete the study procedure, or with the interpretation of study results.
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 | NL54603.041.15 |