NCT02298712

Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Hurler disease from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Trial Health

33
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Aug 2018

Typical duration for all trials

Geographic Reach
4 countries

5 active sites

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

October 23, 2014

Completed
1 month until next milestone

First Posted

Study publicly available on registry

November 24, 2014

Completed
3.7 years until next milestone

Study Start

First participant enrolled

August 20, 2018

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 28, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 28, 2021

Completed
Last Updated

February 13, 2023

Status Verified

February 1, 2023

Enrollment Period

2.5 years

First QC Date

October 23, 2014

Last Update Submit

February 9, 2023

Conditions

Mucopolysaccharidosis Type IGargoylismMetabolism, Inborn Errors

Keywords

IduronidaseLysosomal Storage DiseasesGenetic Diseases, InbornBiomarkerHurler-Scheie SyndromeMPS I

Outcome Measures

Primary Outcomes (1)

  • Development of a new MS-based biomarker for the early and sensitive diagnosis of Hurler disease from blood

    New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.

    24 months

Secondary Outcomes (1)

  • Testing for clinical robustness, specificity and long-term stability of the biomarker

    36 months

Study Arms (1)

Observation

Patients with Hurler disease or high-grade suspicion for Hurler disease

Eligibility Criteria

Age2 Months+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Patients with Hurler disease or high-grade suspicion for Hurler disease

You may qualify if:

  • Informed consent will be obtained from the parents before any study related procedures.
  • Patients of both gender older than 2 month
  • The patient has a diagnosis of Hurler disease or a high-grade suspicion for Hurler disease
  • \- Positive family anamnesis for Hurler disease
  • \- Macrocephaly
  • \- Deformed bones and stiff joints, especially the spine, hips, knees, wrists and fingers
  • \- Musculoskeletal alterations including short stature
  • \- Developmental delay and/or progressive mental deterioration

You may not qualify if:

  • No Informed consent from the parents before any study related procedures.
  • Patients of both gender younger than 2 month
  • No diagnosis of Hurler disease or no valid criteria for profound suspicion of Hurler disease

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (5)

Children's Hospital, Faculty of Medicine, Ain Shams University

Cairo, 89075, Egypt

Location

Centogene AG

Rostock, 18055, Germany

Location

Amrita Institute of Medical Sciences & Research Centre

Kochi, Kerala, 682041, India

Location

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Mumbai, 400705, India

Location

Lady Ridgeway Hospital for Children

Colombo, 00800c, Sri Lanka

Location

Biospecimen

Retention: SAMPLES WITH DNA

Laboratory Blood Test For the development of the new biomarkers using the technique of Mass-spectometry, a blood sample of maximal 10 ml blood will be taken via using a dry blood spot filter card. To proof the correct MPS1 diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of MPS1 will be done. The analyses will be done at the Centogene AG Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

Mucopolysaccharidosis IMetabolism, Inborn ErrorsLysosomal Storage DiseasesGenetic Diseases, Inborn

Condition Hierarchy (Ancestors)

MucopolysaccharidosesCarbohydrate Metabolism, Inborn ErrorsCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMucinosesConnective Tissue DiseasesSkin and Connective Tissue DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Peter Bauer, Prof.

    Centogene GmbH

    STUDY CHAIR
0

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 23, 2014

First Posted

November 24, 2014

Study Start

August 20, 2018

Primary Completion

February 28, 2021

Study Completion

February 28, 2021

Last Updated

February 13, 2023

Record last verified: 2023-02

Locations

IN(2)EG(1)SR(1)DE(1)