Biomarkers for Hunter Syndrome | NCT01330277

Studies
Biomarkers for Hunter Syndrome

NCT01330277

Sponsor

CENTOGENE GmbH Rostock

Status

Terminated

Last Update Posted

Feb 10, 2023Actual

Enrollment

11Actual

Phase

Not provided

Conditions

Hunter Syndrome
Mucopolysaccharidosis II
Hunter's Syndrome, Mild Form
Hunter's Canal Syndrome

Interventions

Not provided

Countries

Mexico

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Feb 2023

Overall Recruitment Status or Expanded Access Status

Terminated

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Study no longer pursued.

Expanded Access Info

Start Date

Aug 20, 2018Actual

Primary Completion Date

Dec 31, 2022Actual

Completion Date

Dec 31, 2022Actual

First Submitted Date

Apr 4, 2011

First Submission Date that Met QC Criteria

Apr 4, 2011

First Posted Date

Apr 6, 2011Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Feb 8, 2023

Last Update Posted Date

Feb 10, 2023Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

International, multicenter, observational, longitudinal study to establish Hunter Syndrom biomarker/s and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s

Detailed Description

Mucopolysaccharides are long chains of sugar carbohydrates, found within the cells that help build bone, cartilage, tendons, cornea, skin, and connective tissue. Glycosaminoglycans (GAGs) are also found in the fluids that lubricate joints. Mucopolysaccharidosis (MPS) are part of the Lysosomal Storage Disorder (LSD) family, a group of more than 40 genetic diseases, and occur when a particular enzyme exists in a small quantity or is missing altogether. The effect is the accumulation of GAGs in the cells, blood, and connective tissues, resulting in permanent and progressive cellular damage which affects appearance, physical abilities, organ and system functioning and, in most cases, mental development.

MPS2 (also called Hunter syndrome) is a hereditary, progressive, multisystemic disorder, caused by mutations in the IDS gene coding for the enzyme iduronate sulfatase (Ids). It is the only type of mucopolysaccharidosis that is X-linked, therefore, if mothers are carriers, there is a 50 percent chance for males to be born with the disease.

MPS2 has a wide range of symptoms that vary in severity, which can be managed with enzyme replacement therapy (ERT). ERT is unable to cross the blood-brain barrier, therefore it addresses strictly extra-neurological manifestations. On this note, further efforts are being made to develop novel therapies, in the attempt to stop the disease progression and to offer a better quality of life to the patients.

As MPS2 is very rare and many medical professionals only see a few or no patients in their lifelong practice, genetic testing is crucial for diagnosis. This study thrives to identify, validate, and monitor potential biomarker/s for MPS2 in genetically confirmed samples.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

11Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Participants with Hunter syndrome		Participants diagnosed with Hunter syndrome (Mucopolisaccharidosis type 2) aged between 2 months to 50 years

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Identifying MPS II biomarkers	All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.	36 weeks

Secondary Outcomes

Measure	Description	Time Frame
To explore the clinical robustness, specificity, and long-term variability of MPS II biomarkers	Samples will be analyzed for the identified biomarker candidates via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

INCLUSION CRITERIA:

Male individuals
Informed consent is obtained from the participant's parent/legal guardian
The participant is aged between 2 months and 50 years of age
The diagnosis of MPS II is genetically confirmed by CENTOGENE

EXCLUSION CRITERIA:

Females
Informed consent is not provided by the participant's parent/legal guardian
The participant is younger than 2 months or older than 50 years of age
The diagnosis of MPS II is not genetically confirmed by CENTOGENE

Accepts Healthy Volunteers

Sex

Male

Sex/Gender Based

Yes

Sex/Gender Description

Male

Minimum Age

2 Months

Maximum Age

50 Years

Standard Ages

ChildAdult

Study Population

Male participants with genetically confirmed Hunter syndrome (Mucopolisaccharidosis type 2 or MPS2)

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Arndt Rolfs, Prof. Dr.	CENTOGENE GmbH Rostock	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Private Practice		Cancún	Quintana Roo	77533	Mexico
Hospital Pediatrico de Sinaloa

References Module

Citations

Not provided

ID	Term
D038901	X-Linked Intellectual Disability
D008607	Intellectual Disability
D019954	Neurobehavioral Manifestations
D009461	Neurologic Manifestations

ID	Term
D016532	Mucopolysaccharidosis II
D013398	Sudden Infant Death