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Establishment of Human Cellular Disease Models for Wilson Disease (IPSWILSON)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03867526
Recruitment Status : Recruiting
First Posted : March 8, 2019
Last Update Posted : March 27, 2019
Information provided by (Responsible Party):
Centogene AG Rostock

Brief Summary:
Establishment of human cellular disease models for Wilson disease for an individualized therapy develop-ment having the capacity to address both hepatic and neurologic forms of the disease

Condition or disease
Wilson Disease

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 40 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Wilson Disease
Actual Study Start Date : June 19, 2018
Estimated Primary Completion Date : June 19, 2020
Estimated Study Completion Date : June 19, 2020

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Wilson Disease

Primary Outcome Measures :
  1. Reprogramming patient-derived fibroblasts into induced pluripotent stem cells (iPSCs) [ Time Frame: 12 months ]
    Generation of patient-specific iPSCs by using sendai-virus reprogramming method

Secondary Outcome Measures :
  1. Differentiation of patient-specific iPSCs into disease-affected cell types [ Time Frame: 24 months ]
    Establishment of iPSC-based disease model to recapitulate/phenocopy the disease in a dish

Biospecimen Retention:   Samples With DNA
The skin biopsy will be carried out for patients with a diagnosis of Niemann Pick. The biopsy is performed by the physician by means of punch biopsy (diameter 2-3 mm) under local anesthesia, preferably on the forearm (alternatively: thigh). The biopsy is immediately transferred to sterile cell culture medium and sent by center representative for the quickest possible processing to CENTOGENE's laboratory located in Germany or to professional collaborators being part of the project.

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Months to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients has a diagnosis of Wilson disease

Inclusion Criteria:

  • Informed consent will be obtained from the patient or the parents before any study related procedures.
  • Patients of both genders older than 6 months and younger than 80 years
  • The patient has a diagnosis of Wilson dis-ease

Exclusion Criteria:

  • No Informed consent from the patient or the parents before any study related procedures
  • Patients of both genders younger than 6 months and older than 80 years
  • No diagnosis of Wilson disease

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03867526

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Contact: Anton Mamin, PhD +49 381 80113 400
Contact: Sanjeev Kumar, PhD +49 381 80113 400

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Childrens Hospital and Institute of Child Health, Ferozepur Road Recruiting
Lahore, Pakistan, 54600
Contact: Huma Arshad Cheema, Prof.         
Contact: Nadeem Anjum, MD         
Sponsors and Collaborators
Centogene AG Rostock
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Study Director: Arndt Rolfs, Prof. Dr. Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock Identifier: NCT03867526     History of Changes
Other Study ID Numbers: IPSWilson 06-2018
First Posted: March 8, 2019    Key Record Dates
Last Update Posted: March 27, 2019
Last Verified: March 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Metabolism, Inborn Errors
Metal Metabolism, Inborn Errors
Hepatolenticular Degeneration
Liver Diseases
Digestive System Diseases
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Movement Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Metabolic Diseases