Development of induced pluripotent stem cell disease models for rare childhood neurological disorders of unknown origin

Induced pluripotent stem cells (iPSCs) are adult cells that have been genetically reprogrammed to be able to develop into the various cell types that make up the human body. Skin biopsies taken from pediatric patients with rare neurodegenerative disorders and age matched controls will be used to generate patient specific iPSC cell lines. These cell lines will then be developed into various neuronal cell populations in order to study the genetic cause of these rare and incurable diseases.

Study phase: I

Basic eligibility criteria:
Please contact the study coordinator for additional eligibility information.

Age between 2 and 18 years
At least one of the following identified conditions
Cognitive impairment (Cognitive and Language DQ <75)
Seizure disorder
Negative or inconclusive microarray and Fragile X testing
Motor impairment (developmental quotient <75 and hypotonia, hypertonia or movement disorder)

The subject will be excluded if they have any of the following neurological conditions:
Muscular dystrophy identified by genetic testing or clear clinical diagnosis
Neurodegenerative condition identified by genetic testing or clear clinical diagnosis

Additional information:

The subjects will be compensated $100 for the two study visits for their time and travel expenses.
The subjects’ parents/legal guardians will be informed that they will not receive economic gain from commercial products. It is likely that some of the research that would be done using their DNA will lead to the development of commercial products. However, their DNA would represent only a very small contribution to the development of a successful product. Even though the law in this area is not completely clear, they should not expect to get any part of these profits.

Primary disease category: Brain, Spinal Cord & Nervous System

This study is enrolling healthy volunteers.

Projected enrollment dates: April 2015 to April 2017

Official study title: Development of induced pluripotent stem cell disease models for rare childhood neurological disorders of unknown origin