Trials Sponsors Conditions Drugs Pricing

Conditions

Niemann-Pick Diseases

Outcome Measures

Primary Outcomes (1)

To generate patient-specific induced pluripotent stem cells and then differentiate them into neural cells
The aim of this study is to generate patient-specific induced pluripotent stem cells and then differentiate them into neural cells to study the misfolded proteins in endoplasmic reticulum, their role in untranslated protein response, and possible mechanisms to shuttle the misfolded proteins into lysosomes.
24 months

Eligibility Criteria

Age6 Months - 80 Years

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodProbability Sample

Study Population

The patient has a diagnosis of Niemann Pick disease

You may qualify if:

Informed consent will be obtained from the patient or the parents before any study related procedures

Sponsors & Collaborators

CENTOGENE GmbH Rostock
Industrylead

Study Sites (1)

Childrens Hospital and Institute of Child Health, Ferozepur Road

Lahore, 54600, Pakistan

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

Niemann-Pick Diseases

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesHistiocytosis, Non-Langerhans-CellHistiocytosisLymphatic DiseasesHemic and Lymphatic DiseasesMetabolism, Inborn ErrorsGenetic Diseases, Inborn

Study Officials

Arndt Rolfs, Prof.
CENTOGENE GmbH Rostock
PRINCIPAL INVESTIGATOR

Enrollment

40 participants (actual enrollment reported by the registry).

Study Design

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

Study Record Dates

First Submitted

March 4, 2019

First Posted

March 21, 2019

Study Start

June 19, 2018

Actual (reported)

Induced Pluripotent Stem Cells for Niemann Pick Disease

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Outcome Measures

Primary Outcomes (1)

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Outcome Measures

Primary Outcomes (1)

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations