Natural History Program for MPS IVA

MPS IVA is a clinically heterogeneous disease in terms of the extent of organ impairment and rate of disease progression in affected individuals. The clinical reports that have been published are case reports only and are not based on observations of larger cross sections of the population.

The information on the frequency and severity of clinical characteristics of MPS IVA is scarce, and clinically relevant outcome variables have not been systematically assessed. This, however, is mandatory in order to well design future clinical trials with enzyme replacement therapy.

The purpose of this natural history study therefore is to provide essential basis information on the disease, the feasibility of the assessment of potential clinical endpoints, and their variability.

Protocol Synopsis

A 12-Month Observational Study of Pediatric Patients with Mucopolysaccharidosis Type IV A. The study will be conducted in the period from September 2008 to December 2009.

Protocol ID

VIV-001

Title

A 12-Month Observational Study of Pediatric Patients with Mucopolysaccharidosis Type IV A

Indication

Mucopolysaccharidosis Type IV A, also known as MPS IV A or Morquio A Syndrome

Clinical Phase

Observational study without study medication - prior to phase I trial

Ojectives

• To systematically collect data on the natural course of MPS Type IV A in pediatric patients
• To assess the variability of the clinical symptoms and of the potential clinical endpoints of the disease

MAIN SELECTION CRITERIA

 

Inclusion Criteria

• Informed consent obtained before any study procedures
• Confirmed diagnosis of MPS IVA
• Male or female pediatric patients
• Minimum walking distance of 5 meters during a standard 6-minute walk test

Exclusion Criteria

• Previous bone marrow or cord blood transplantation followed by full or partial engraftment
• Any investigational therapy within 4 weeks prior to enrolment
• Clinical health conditions that would interfere with the study procedures
• Expectations of non-adherence to study procedures

MAIN ANALYSIS VARIABLES

 

Clinical Variables

• Walking distance, heart rate, respiration and oxygen saturation after 6-minute walk test
• Spirometric assessment of FVC and FEV1
• Evaluation of specific organ systems
• Cardiologic assessments by and ECG and echocardiography
• Physical examination, clinical assessments, and vital signs
• Patient Questionnaires
• Laboratory assessments

Safety

Due to the fact that this is an observational study without the use of an investigational drug, classic safety parameters, such as adverse events, will not be obtained. However, patients will be examined closely during the 12-month study (laboratory examinations, physical examinations, clinical assessments, ECG, Echocardiogram etc.).

Study

Duration 12 months per patient