Establishment of Human Cellular Disease Models for Morquio Disease

NCT03872713 | Completed

• 1 other identifier: IPSM 09-2018
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

Establishment of human cellular disease models for Morquio disease for an individualized therapy development having the capacity to address both hepatic and neurologic forms of the disease

Conditions

Morquio Disease

Outcome Measures

Primary Outcomes (1)

• Reprogramming patient-derived fibroblasts into induced pluripotent stem cells

  The aim of this study is to generate patient-specific induced pluripotent stem cells and then differentiate them into chondrocytes to study the accumulation of keratin sulfate (KS) and chondroitin-6-sulfate (C6S), and possible mechanism to reduce the accumulated substances and modulate the defective enzyme

  24 months

Eligibility Criteria

• Age: 12 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patient has a diagnosis of Morquio 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 12 months
• Patient has a diagnosis of Morquio disease

You may not qualify if:

• No Informed consent from the patient or the parents before any study related procedures
• Patient is younger than 12 months
• Patient has no diagnosis of Morquio 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

Mucopolysaccharidosis IV

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; 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 13, 2019
• Study Start: October 26, 2018
• Primary Completion: December 1, 2019
• Study Completion: December 1, 2019
• Last Updated: April 9, 2021

Record last verified: 2020-04

Locations

PA (1)