NCT02383641

Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Wolman disease blood (plasma)

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
3 countries

3 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withdrawn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

March 3, 2015

Completed
6 days until next milestone

First Posted

Study publicly available on registry

March 9, 2015

Completed
3.5 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

March 3, 2015

Last Update Submit

February 9, 2023

Conditions

Acid Lipase DeficiencyAcid Cholesteryl Ester Hydrolase Deficiency, Wolman TypeCholesterol Ester Storage Disease

Keywords

Wolman diseaseBiomarker

Outcome Measures

Primary Outcomes (1)

  • Development of a new MS-based biomarker for the early and sensitive diagnosis of Wolman 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 month

Study Arms (1)

Observation

Patients with Wolman disease or high-grade suspicion for Wolman 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 Wolman disease or high-grade suspicion for Wolman 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 Wolman disease or a high-grade suspicion for Wolman disease
  • Positive family anamnesis for Wolman disease
  • Vomiting, diarrhea
  • Malnourishment, difficulty growing and gaining weight
  • Enlarged liver and spleen (hepatosplenomegaly), which causes a distended abdomen
  • Low muscle tone (hypotonia)
  • Anemia
  • x-ray reveals calcified adrenal glands

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 Wolman disease or no valid criteria for profound suspicion of Wolman disease

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

Centogene AG

Rostock, 18055, Germany

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

For the development of the new biomarkers using the technique of Mass-spectometry, maximal 7,5 ml blood will be taken from the patient via using a dry blood spot filter card. To prove the correct Wolman disease diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of Wolman disease will be done. The analyses will be done at the Centogene AG Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

Wolman DiseaseCholesterol Ester Storage Disease

Condition Hierarchy (Ancestors)

LipidosesLipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLysosomal Storage DiseasesInfant, Newborn, DiseasesLipid Metabolism DisordersMetabolic 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

March 3, 2015

First Posted

March 9, 2015

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

SR(1)DE(1)IN(1)