The two objectives of our study are:(i) to develop a disease model using stem cells, with which further research into the underlying disease mechanisms of ALS and future therapies can be done(ii) genetic modification of stem cells to correct or…
ID
Source
Brief title
Condition
- Neuromuscular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
A better understanding of the pathogenesis of ALS is essential for the
development of future treatment options for patients suffering from ALS. By
creating iPS-cells from fibroblasts we will develop cell lines which will be
used for disease modeling, with which further research can be done into the
pathogenesis of ALS.
Secondary outcome
nvt
Background summary
ALS is an adult-onset, disabling and fatal disease characterized by progressive
degeneration of motor neurons in brain and spinal cord. No cure is available
for ALS and the median survival is 3 years. There is no definitive diagnostic
test available for ALS and other conditions can mimic ALS clinically. The
diagnostic delay is often more than one year and misdiagnosis is also common.
In approximately 10% of patients ALS occurs in families. Familial ALS is
clinically and pathologically indistinguishable from sporadic ALS. The
pathogenesis of ALS is unknown but there is convincing evidence that several
molecular pathways play a role.
Study objective
The two objectives of our study are:
(i) to develop a disease model using stem cells, with which further research
into the underlying disease mechanisms of ALS and future therapies can be done
(ii) genetic modification of stem cells to correct or induce mutations
Study design
We aim to use fibroblasts acquired from patients and healthy controls for
reprogramming into stem cells and further development into a disease model.
Through collaboration with Prof. dr. N. Geijsen we can use a special technique
to reprogram fibroblasts into pluripotent stem cells (iPS-cells). Using these
iPS-cells we will differentiate these into motor neurons and develop a disease
model for ALS.
Further analysis will be performed regarding morphology, genetic background and
molecular phenotype of different cell lines. Also we will genetically modify
stem cells to repair or induce mutations. This study shall lead to a better
understanding of the pathogenesis of ALS and possibly to future therapies.
Study burden and risks
Risks in participating in this study are the risks associated with undergoing a
skin biopsy. This is a safe and frequently performed exercise with infrequent
complications. The procedure is not time consuming.
Heidelberglaan 100
Utrecht 3584 CX
NL
Heidelberglaan 100
Utrecht 3584 CX
NL
Listed location countries
Age
Inclusion criteria
For healthy controls:
- Without neurological disease or a disorder similar to ALS
- Age > 18 years;For patients:
- Diagnosis of ALS or other ALS-mimic disorder
- Age > 18 years
Exclusion criteria
For healthy controls:
- Neurological disease or a disorder similar to ALS
- Age < 18 years;For patients:
- Diagnosis unknown
- Age < 18 years
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL39918.041.12 |