Preparation for in vivo correction of SCD and X-SCID causing mutations by CRISPR-Cas9 by in vitro studies in cell lines
ID
Source
Brief title
Condition
- Red blood cell disorders
- Immune system disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Percentage of cells in which the SCD or X-SCID causing mutations are corrected
without detectable mutations in other genes
Secondary outcome
n.a.
Background summary
Sickle cell disease (SCD) and X-linked severe combined immunodeficiency
(X-SCID) are both Mendelian, life threatening diseases that can only be cured
by an allogeneic hematopoietic stem cell transplantation (HSCT). Gene editing
would enable patients to receive an autologous instead of an allogeneic
transplantation, with a concomitant reduction in morbidity and mortality.
Study objective
Preparation for in vivo correction of SCD and X-SCID causing mutations by
CRISPR-Cas9 by in vitro studies in cell lines
Study design
Observational study with invasive measurements
Study burden and risks
The risk and burden associated with a single skin biopsy are negligible,
especially when taken during surgery using the surgical incision that already
needs to be made for clinical care reasons. Gene editing would enable patients
to receive an autologous instead of an allogeneic HSCT in the future, which may
yield a group benefit.
Meibergdreef 9
Amsterdam 1105 AZ
NL
Meibergdreef 9
Amsterdam 1105 AZ
NL
Listed location countries
Age
Inclusion criteria
1. Presence of either SCD or X-SCID
2. For children: availability of an existing cell line or a planned surgical intervention for patient care reasons
3. Able to provide written permission
Exclusion criteria
none
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 | NL56205.018.16 |