CRISPR/Cas9-based Therapy for Rare Diseases

CRISPR/Cas9-based therapy can be used to change the DNA of cells or organismsCas9-based be used for treatment research of rare diseases, such as cystic fibrosis, hemophilia, β-thalassemia, Huntington's, Parkinson's, tyrosinemia, Alzheimer's, Duchenne muscular dystrophy, Tay-Sachs, and fragile X syndrome disorders. Currently, there are already some cases of using CRISPR/Cas9-based therapy for rare diseases:

Rare Disease	Companies	Mechanism	Delivery	Notes
a-1-Antitrypsin deficiency	EDIT	NHEJ & HDR	In vivo	By AAV or LNP
a-1-Antitrypsin deficiency	NTLA	n/a	In vivo	By LNP
Amyotrophic lateral sclerosis	CRSP	n/a	In vivo	Collaboration with Target ALS and University of Florida
Autoimmune and inflammatory diseases	NTLA	n/a	Ex vivo	Disease unspecified
β-Hemoglobinopathies (β-thalassemia & sickle cell disease)	CRSP	NHEJ	Ex vivo	CTX001;based on induction of y-globin
	EDIT	NHEJ & HDR	Ex vivo	By RNP
	NTLA	n/a	Ex vivo	In collaboration with Novartis Institute for Biomedical Research, Inc.
Cystic fibrosis	CRSP	HDR	In vivo	Correction/insertion of CFTR gene
Cystic fibrosis	EDIT	NHE & HDR	In vivo	By AAV or LNP
Duchenne muscular dystrophy	CRSP	NHEJ	In vivo	Functional correction of DMD gene by deletion
Duchenne muscular dystrophy	EDIT	NHEJ	In vivo	Correction by small and large deletion; by AAV or LNP
Friedreich's ataxia	CRSP	n/a	In vivo	Collaboration with Friedreich's Ataxia Alliance & University of Alabama (Birmingham)
Glycogen storage disease Ia	CRSP	HDR	In vivo	Correction/insertion of G6PC gene
Hemophilia	CRSP	HDR	In vivo	Withdrawn from portfolio Q3/4 2018
Hurler Syndrome	CRSP	HDR	Ex vivo	Correction/insertion of IDUA gene
Inborn errors of metabolism	NTLA	n/a	In vivo	Disease unspecified; by LNP
Leber congenital amaurosis 10	EDIT	NHEJ	In vivo	Correction by small deletion; by local AAV injection
Liver diseases	NTLA	n/a	Ex vivo	Disease unspecified
Primary hyperoxaluria type 1	NTLA	na	In vivo	By LNP
Severe combined immunodeficiency	CRSP	HDR	Ex vivo	Withdrawn from portfolio Q3/4 2018
Transthyretin amyloidosis	NTLA	n/a	In vivo	By LNP: collaboration with Regeneron Pharmaceuticals, Inc.
Usher syndrome 2a	EDIT	NHEJ	In vivo	By local AAV injection