Ignite Creation Date:
2024-05-06 @ 5:22 PM
Last Modification Date:
2024-10-26 @ 2:27 PM
Study NCT ID:
NCT05284006
Status:
RECRUITING
Last Update Posted:
2024-05-01
First Post:
2022-02-09
Brief Title:
Non-invasive Functional Assessment and Pathogenesis of Morquio A
Sponsor:
Nemours Childrens Clinic
Organization:
Nemours Childrens Clinic
Study Overview
Official Title:
Non-invasive Functional Assessment and Pathogenesis of Morquio A NIFAMA
Status:
RECRUITING
Status Verified Date:
2024-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
NIFAMA
Brief Summary:
Morquio A disease is a devastating systemic skeletal disease in which detailed progression and pathogenesis remain unknown The proposed project aims to establish a non-invasive objective assessment that can be applicable to all ages of patients to better understand the progress of their disease and the most serious clinical problems cervical instability and stenosis tracheal obstruction hyperlaxity of joints hip dysplasia and small lung capacity The outcome of this project will lead to a more precise understanding of the skeletalpulmonary compromise and defining clinical endpoints in this disease for future clinical trials of current or developing therapies
Detailed Description:
Mucopolysaccharidosis IVA MPS IVA Morquio A Disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme N-acetylgalactosamine 6-sulfate sulfatase GALNS GALNS catalyzes the degradation of the glycosaminoglycans keratan sulfate KS and chondroitin-6-sulfate C6S MPS IVA patients develop a characteristic skeletal dysplasia due to the progressive storage of KS and C6S Patients appear healthy at birth although some patients present with abnormal skeletal dysplasia even at birth Patients usually come to medical attention within two years of life because of short trunk dwarfism odontoid hypoplasia pectus carinatum kyphosis genu valgum or hypermobile joints Patients with severe phenotype often do not survive beyond a few decades of life because of cervical instabilitystenosis tracheal obstruction and cardiopulmonary compromise Patients require multiple orthopedic surgeries cervical decompressionfusion osteotomy hip reconstruction and replacement etc throughout their lifetime Enzyme replacement therapy and hematopoietic stem cell therapy are available clinically Gene therapy and enzyme degradation substrate therapy are under development In 1998 the investigators began collecting medical information from patients in the Registry Database The database contains around 400 patients and has established a growth chart that indicates marked poor growth with the imbalance and consequent poor health in MPS IVA However since these data are based on responses to a self-completion questionnaire there are inherent limitations to the data and their interpretation Current clinical assessments of therapies for MPS IVA patients are a 6-min walk test a 3-min stair climb test and forced pulmonary function test These endurance tests are difficult for small children patients in wheelchairs and patients undergoing surgical procedures Methods used to assess skeletal dysplasia disorders can be expensive time-consuming and exhausting for the patients Better methods for assessment including in-home evaluations are needed to evaluate clinical efficacy and to provide optimal clinical treatments for MPS IVA patients The proposed project will assess multiple domains non-invasively which includes pulmonary function bone mineralization gait pattern laxity of joints tracheal function and hearing function Proposed non-invasive assessments will provide an effective and innovative way of characterizing the disease and evaluating the benefits of therapies even in small but diverse patient populations despite age and physical handicaps Over 100 MPS IVA patients have been enrolled in our clinic making our institution the most popular site in the world and ideally suited to complete this project The assessment program with non-invasive methods will have a significant impact on science and health by detailing the progression and pathogenesis of major skeletal problems in MPS IVA The outcome of this project will also define clinical endpoints to measure the efficacy of future clinical products and interventions and may apply to other skeletal dysplasias
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 1R01HD102545-01A1 | NIH | None | httpsreporternihgovquickSearch1R01HD102545-01A1 |