Establishment of Human Cellular Disease Models for Wilson Disease

NCT03867526 | Completed

• 1 other identifier: IPSWilson 06-2018
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

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

Conditions

Wilson Disease

Outcome Measures

Primary Outcomes (1)

• Reprogramming patient-derived fibroblasts into induced pluripotent stem cells (iPSCs)

  Generation of patient-specific iPSCs by using sendai-virus reprogramming method

  12 months

Secondary Outcomes (1)

• Differentiation of patient-specific iPSCs into disease-affected cell types

  24 months

Eligibility Criteria

• Age: 6 Months - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients has a diagnosis of Wilson disease

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

Study Sites (1)

Childrens Hospital and Institute of Child Health, Ferozepur Road

Lahore, 54600, Pakistan

Location

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.

MeSH Terms

Conditions

Hepatolenticular Degeneration

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Arndt Rolfs, Prof. Dr.

  CENTOGENE GmbH Rostock

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 6, 2019
• First Posted: March 8, 2019
• Study Start: June 19, 2018
• Primary Completion: December 1, 2019
• Study Completion: December 1, 2019
• Last Updated: April 9, 2021

Record last verified: 2020-04

Locations

PA (1)