Understanding Atypical Morquio A Disease
Natural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert Center
Association Aquitaine de Recherche Clinique en Rhumatologie · NCT03204370
This study is trying to learn more about Morquio A disease and how it affects people's health and quality of life, whether they are receiving a specific treatment or not.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 10 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Association Aquitaine de Recherche Clinique en Rhumatologie (other) |
| Locations | 1 site (Bordeaux, Aquitaine) |
| Trial ID | NCT03204370 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on Mucopolysaccharidosis IV A (Morquio A disease), a rare genetic disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. It aims to gather data on the natural history of the disease, including its progression and the impact of enzyme replacement therapy (ERT) with elosulfase alfa. The study will involve patients who are either receiving ERT or not, and will be conducted at an expert center to ensure comprehensive assessment and management. The goal is to better understand the disease's effects on patients' health and quality of life.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with MPS IVA who are over 1 meter tall and are either receiving ERT or not.
Not a fit: Patients with other diseases or those who refuse to participate will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Morquio A disease and improve management strategies for affected patients.
How similar studies have performed: Previous studies on enzyme replacement therapy for Morquio A disease have shown significant improvements, indicating a promising approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * MPS4A affected patients * Height more than 1 m (atypical phenotypes) * Treatment by ERT or not * Followed in our expert center * Having signed an inform consent form * Being affiliated to a health insurance system Exclusion Criteria: * Patients affected by another disease * Patients refusing to participate to the study
Where this trial is running
Bordeaux, Aquitaine
- Rheumatology department - Bordeaux University Hospital — Bordeaux, Aquitaine, France (RECRUITING)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Mucopolysaccharidosis IV A