Choroideremia

Summary

Choroideremia (MONDO:0010557) is a disease caused by CHM (GenCC Definitive), with 5 cohort genes and 32 clinical trials. Top therapeutic interventions include simvastatin, vitamin a palmitate, and kio-301.

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Causal gene: CHM (GenCC Definitive)
• Cohort genes: 5
• ClinVar variants: 181
• Phenotypes (HPO): 15
• Clinical trials: 32

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	2	Europe	Validated

Signs & symptoms

Clinical features (HPO)

15 HPO clinical features (Orphanet curated; top 15 by frequency):

HPO ID	Term	Frequency
HP:0000505	Visual impairment	Very frequent (80-99%)
HP:0000512	Abnormal electroretinogram	Very frequent (80-99%)
HP:0000545	Myopia	Very frequent (80-99%)
HP:0000662	Nyctalopia	Very frequent (80-99%)
HP:0007703	Abnormality of retinal pigmentation	Very frequent (80-99%)
HP:0000529	Progressive visual loss	Frequent (30-79%)
HP:0001133	Constriction of peripheral visual field	Frequent (30-79%)
HP:0001139	Choroideremia	Frequent (30-79%)
HP:0007994	Peripheral visual field loss	Frequent (30-79%)
HP:0000533	Chorioretinal atrophy	Occasional (5-29%)
HP:0000551	Color vision defect	Occasional (5-29%)
HP:0007787	Posterior subcapsular cataract	Occasional (5-29%)
HP:0011506	Choroidal neovascularization	Occasional (5-29%)
HP:0030602	Abnormal fundus autofluorescence imaging	Occasional (5-29%)
HP:0040049	Macular edema	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	choroideremia
Mondo ID	MONDO:0010557
MeSH	D015794
OMIM	303100
Orphanet	180
DOID	DOID:9821
ICD-10-CM	H31.21
ICD-11	217923263
NCIT	C34469
SNOMED CT	75241009
UMLS	C0008525
MedGen	944
GARD	0006061
MedDRA	10008791
NORD	932
Is cancer (heuristic)	no

Also known as: CHM · choroideremia · progressive choroidal atrophy · progressive tapetochoroidal dystrophy · Tapetochoroidal dystrophy · TCD

Data availability: 181 ClinVar variants · 4 GenCC gene-disease records · 28 cell lines.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › X-linked disease › choroideremia

Related subtypes (49): X-linked Opitz G/BBB syndrome, X-linked immunoneurologic disorder, X-linked adrenal hypoplasia congenita, X-linked lissencephaly with abnormal genitalia, X-linked severe congenital neutropenia, X-linked distal spinal muscular atrophy type 3, epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, Aland island eye disease, X-linked erythropoietic protoporphyria, X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome, X-linked acrogigantism due to Xq26 microduplication, Wiskott-Aldrich syndrome, X-linked Alport syndrome, X-linked mandibulofacial dysostosis, X-linked chondrodysplasia punctata, cone dystrophy, X-linked, with tapetal-like sheen, diabetes insipidus, nephrogenic, X-linked, Dyggve-Melchior-Clausen syndrome, X-linked, dyskeratosis congenita, X-linked, X-linked hypohidrotic ectodermal dysplasia, X-linked Ehlers-Danlos syndrome, epidermodysplasia verruciformis, X-linked, exudative vitreoretinopathy 2, X-linked, Aarskog-Scott syndrome, X-linked, hemophilia A, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius, hyper-IgM syndrome type 1, X-linked lymphoproliferative syndrome, macular dystrophy, X-linked, X-linked Emery-Dreifuss muscular dystrophy, X-linked myotubular myopathy, X-linked lethal multiple pterygium syndrome, X-linked retinoschisis, spondyloepiphyseal dysplasia tarda, X-linked, X-linked cerebellar ataxia, adrenoleukodystrophy, Charcot-Marie-Tooth disease type X, X-linked dominant disease, X-linked recessive disease, X-linked hypophosphatemic rickets, X-linked sideroblastic anemia 1, X-linked deafness, X-linked cone-rod dystrophy, X-linked congenital stationary night blindness, X-linked congenital hemolytic anemia, X-linked complex neurodevelopmental disorder, X-linked intellectual disability, leukemia, acute, X-linked

Subtypes (2): total central choroidal atrophy, choroideremia hypopituitarism

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

181 retrieved; paginated sample, class counts are floors:

62 pathogenic, 45 uncertain significance, 23 likely pathogenic, 18 benign, 13 likely benign, 9 pathogenic/likely pathogenic, 7 conflicting classifications of pathogenicity, 3 benign/likely benign, 1 not provided

ClinVar	Variant (HGVS)	Gene	Classification	Review
1069387	NM_000390.4(CHM):c.49+3A>G	CHM	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1073117	NM_000390.4(CHM):c.1663A>T (p.Arg555Ter)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
1073806	NM_000390.4(CHM):c.224G>A (p.Trp75Ter)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
1075553	NM_000390.4(CHM):c.1166+1G>C	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
11148	NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter)	CHM	Pathogenic	no assertion criteria provided
11149	NM_000390.4(CHM):c.1484C>A (p.Ser495Ter)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
11150	NM_000390.4(CHM):c.1471G>T (p.Glu491Ter)	CHM	Pathogenic	no assertion criteria provided
11152	NM_000390.4(CHM):c.1584_1587del (p.Val529fs)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
11153	NM_000390.4(CHM):c.1497C>A (p.Cys499Ter)	CHM	Pathogenic	criteria provided, single submitter
11154	NM_000390.4(CHM):c.877C>T (p.Arg293Ter)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
11156	NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT	CHM	Pathogenic	no assertion criteria provided
1178351	NM_000390.4(CHM):c.232C>T (p.Gln78Ter)	CHM	Pathogenic	criteria provided, single submitter
1213973	NM_000390.4(CHM):c.856C>T (p.Gln286Ter)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
1213974	NM_000390.4(CHM):c.1066A>T (p.Lys356Ter)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
1330296	NM_000390.4(CHM):c.703-2A>G	CHM	Pathogenic	criteria provided, single submitter
1330298	NM_000390.4(CHM):c.846dup (p.Asn283Ter)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
1380902	NM_000390.4(CHM):c.1695T>G (p.Tyr565Ter)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
143078	NM_000390.4(CHM):c.808C>T (p.Arg270Ter)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
1454540	NM_000390.4(CHM):c.979C>T (p.Gln327Ter)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
1675198	NM_000390.4(CHM):c.187C>T (p.Gln63Ter)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
1685630	NM_000390.4(CHM):c.1350-1G>A	CHM	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1685631	NM_000390.4(CHM):c.961del (p.Tyr321fs)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
1685632	NM_000390.4(CHM):c.437T>G (p.Leu146Ter)	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
1691447	NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer)	CHM	Pathogenic	no assertion criteria provided
1703520	NM_000390.4(CHM):c.1402del (p.Ser468fs)	CHM	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1725706	NM_000390.4(CHM):c.1186G>T (p.Gly396Ter)	CHM	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1805107	NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)	CHM	Pathogenic	criteria provided, single submitter
1806322	NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)	CHM	Pathogenic	criteria provided, single submitter
1806365	NM_000390.4(CHM):c.941-1G>A	CHM	Pathogenic	criteria provided, multiple submitters, no conflicts
189189	NM_000390.4(CHM):c.116+1G>A	CHM	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 15 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
CHM	Definitive	X-linked	choroideremia	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CHM	Orphanet:180	Choroideremia
PRPF8	Orphanet:528084	Non-specific syndromic intellectual disability
PRPF8	Orphanet:791	Retinitis pigmentosa
TOPORS	Orphanet:2754	Orofaciodigital syndrome type 6
TOPORS	Orphanet:791	Retinitis pigmentosa
CYP4V2	Orphanet:41751	Bietti crystalline dystrophy
PRPH2	Orphanet:1872	Cone rod dystrophy
PRPH2	Orphanet:227796	Fundus albipunctatus
PRPH2	Orphanet:52427	Retinitis punctata albescens
PRPH2	Orphanet:75377	Central areolar choroidal dystrophy
PRPH2	Orphanet:791	Retinitis pigmentosa
PRPH2	Orphanet:827	Stargardt disease
PRPH2	Orphanet:99000	Adult-onset foveomacular vitelliform dystrophy
PRPH2	Orphanet:99001	Butterfly-shaped pigment dystrophy
PRPH2	Orphanet:99003	Multifocal pattern dystrophy simulating fundus flavimaculatus

Cohort genes → proteins

5 cohort genes, 5 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CHM	HGNC:1940	ENSG00000188419	P24386	Rab proteins geranylgeranyltransferase component A 1	gencc,clinvar
PRPF8	HGNC:17340	ENSG00000174231	Q6P2Q9	Pre-mRNA-processing-splicing factor 8	clinvar
TOPORS	HGNC:21653	ENSG00000197579	Q9NS56	E3 ubiquitin-protein ligase Topors	clinvar
CYP4V2	HGNC:23198	ENSG00000145476	Q6ZWL3	Cytochrome P450 4V2	clinvar
PRPH2	HGNC:9942	ENSG00000112619	P23942	Peripherin-2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CHM	Rab proteins geranylgeranyltransferase component A 1	Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex.
PRPF8	Pre-mRNA-processing-splicing factor 8	Plays a role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome.
TOPORS	E3 ubiquitin-protein ligase Topors	Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase.
CYP4V2	Cytochrome P450 4V2	A cytochrome P450 monooxygenase involved in fatty acid metabolism in the eye.
PRPH2	Peripherin-2	Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure.

Protein-family classification

Druggable: 2 · Difficult: 1 · Unknown: 2 · Druggable fraction: 0.4

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Enzyme (other)	2	4.8×	0.176
Transcription factor	1	1.6×	0.713
Other/Unknown	2	0.7×	0.877

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CHM	Enzyme (other)	yes	2.5.1.60	Rab_escort, GDP_dissociation_inhibitor, FAD/NAD-bd_sf
PRPF8	Other/Unknown	no		JAMM/MPN+_dom, RNaseH-like_sf, PRO8NT
TOPORS	Transcription factor	no		Znf_RING, Znf_RING/FYVE/PHD, Znf_RING_CS
CYP4V2	Enzyme (other)	yes	1.14.14.79	Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
PRPH2	Other/Unknown	no		Peripherin/rom-1, Tetraspanin_EC2_sf, Peripherin/rom-1_CS

Expression context

Cohort genes with no expression data: 0.

5 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	5
unknown	0

Top tissues across cohort

Tissue	Cohort genes
Brodmann (1909) area 23	1
endothelial cell	1
middle temporal gyrus	1
adenohypophysis	1
pituitary gland	1
ventricular zone	1
calcaneal tendon	1
secondary oocyte	1
sperm	1
ileal mucosa	1
kidney epithelium	1
liver	1
hindlimb stylopod muscle	1
quadriceps femoris	1
vastus lateralis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CHM	264	ubiquitous	marker	endothelial cell, Brodmann (1909) area 23, middle temporal gyrus
PRPF8	145	ubiquitous	marker	adenohypophysis, pituitary gland, ventricular zone
TOPORS	285	ubiquitous	marker	secondary oocyte, calcaneal tendon, sperm
CYP4V2	254	ubiquitous	marker	kidney epithelium, ileal mucosa, liver
PRPH2	176	tissue_specific	marker	quadriceps femoris, vastus lateralis, hindlimb stylopod muscle

Protein interactions among cohort

Intra-cohort edges: 2.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PRPF8	5,582
CYP4V2	1,867
TOPORS	1,552
CHM	1,445
PRPH2	1,234

Intra-cohort edges

A	B	Sources
PRPF8	TOPORS	string_interaction
PRPH2	TOPORS	string_interaction

Structural data

PDB: 2 · AlphaFold-only: 3 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PRPF8	Q6P2Q9	101
PRPH2	P23942	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CYP4V2	Q6ZWL3	91.05
CHM	P24386	81.05
TOPORS	Q9NS56	49.39

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 11. Enrichment computed across 5 evidence-associated genes (4 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
SUMOylation of immune response proteins	1	237.9×	0.027	TOPORS
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain	1	190.3×	0.027	CHM
The canonical retinoid cycle in rods (twilight vision)	1	129.8×	0.027	CYP4V2
Endogenous sterols	1	98.5×	0.027	CYP4V2
SUMOylation of SUMOylation proteins	1	81.6×	0.027	TOPORS
SUMOylation of transcription cofactors	1	60.7×	0.028	TOPORS
mRNA Splicing - Minor Pathway	1	56.0×	0.028	PRPF8
RAB geranylgeranylation	1	43.3×	0.032	CHM
RAB GEFs exchange GTP for GDP on RABs	1	31.0×	0.039	CHM
mRNA Splicing - Major Pathway	1	13.7×	0.078	PRPF8
Dengue Virus-Host Interactions	1	11.4×	0.085	PRPF8

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
photoreceptor cell outer segment organization	2	421.3×	3e-04	TOPORS, PRPH2
visual perception	3	47.7×	4e-04	CHM, CYP4V2, PRPH2
response to low light intensity stimulus	1	3370.4×	0.004	PRPH2
fatty acid omega-oxidation	1	561.7×	0.015	CYP4V2
protein geranylgeranylation	1	561.7×	0.015	CHM
spliceosomal tri-snRNP complex assembly	1	224.7×	0.024	PRPF8
maintenance of protein location in nucleus	1	224.7×	0.024	TOPORS
protein heterooligomerization	1	210.7×	0.024	PRPH2
sterol metabolic process	1	168.5×	0.027	CYP4V2
retina layer formation	1	129.6×	0.027	TOPORS
detection of light stimulus involved in visual perception	1	129.6×	0.027	PRPH2
RNA splicing, via transesterification reactions	1	124.8×	0.027	PRPF8
retinoid metabolic process	1	99.1×	0.029	CYP4V2
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1	99.1×	0.029	TOPORS
protein localization to nucleus	1	70.2×	0.035	TOPORS
protein monoubiquitination	1	68.8×	0.035	TOPORS
intrinsic apoptotic signaling pathway in response to DNA damage	1	64.8×	0.035	TOPORS
protein sumoylation	1	64.8×	0.035	TOPORS
protein targeting to membrane	1	59.1×	0.036	CHM
retina development in camera-type eye	1	51.1×	0.040	PRPH2
DNA-templated transcription	1	44.9×	0.043	TOPORS
small GTPase-mediated signal transduction	1	36.6×	0.050	CHM
protein K48-linked ubiquitination	1	33.7×	0.050	TOPORS
protein maturation	1	32.7×	0.050	PRPH2
cellular response to tumor necrosis factor	1	32.7×	0.050	PRPF8
protein homooligomerization	1	24.4×	0.062	PRPH2
protein polyubiquitination	1	23.1×	0.062	TOPORS
regulation of cell population proliferation	1	23.1×	0.062	TOPORS
protein localization to plasma membrane	1	21.7×	0.064	PRPH2
cellular response to lipopolysaccharide	1	19.6×	0.067	PRPF8

Therapeutics

Drugs indicated for this disease

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Timrepigene Emparvovec	Phase 3 (in late-stage trials)

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 4

Druggability breadth: 2 of 5 evidence-associated genes (40%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PRPF8	1	2
CHM	0	0
TOPORS	0	0
CYP4V2	0	0
PRPH2	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MOLIBRESIB	2	PRPF8

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PRPF8	8	Binding:8
CHM	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
CHM	2.5.1.60	protein geranylgeranyltransferase type II
CYP4V2	1.14.14.79	docosahexaenoic acid omega-hydroxylase

Pharmacogenomics

Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

1 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
MOLIBRESIB	2	PRPF8

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	1	PRPF8
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	2	CHM, CYP4V2
E	Difficult family or no structure, no drug	2	TOPORS, PRPH2

Undrugged target profiles

4 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
CHM	1	—
TOPORS	0	—
CYP4V2	0	—
PRPH2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 32.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	19
PHASE1/PHASE2	5
PHASE2	4
PHASE3	2
PHASE1	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03584165	PHASE3	ENROLLING_BY_INVITATION	Long-term Safety and Efficacy Follow-up of BIIB111 for the Treatment of Choroideremia and BIIB112 for the Treatment of X-Linked Retinitis Pigmentosa
NCT03496012	PHASE3	COMPLETED	Efficacy and Safety of BIIB111 for the Treatment of Choroideremia
NCT01461213	PHASE1/PHASE2	COMPLETED	Gene Therapy for Blindness Caused by Choroideremia
NCT01654562	PHASE1/PHASE2	TERMINATED	The Short-term Effects of Simvastatin on the Vision of Males Affected by Choroideremia
NCT02077361	PHASE1/PHASE2	COMPLETED	An Open Label Clinical Trial of Retinal Gene Therapy for Choroideremia
NCT02341807	PHASE1/PHASE2	COMPLETED	Safety and Dose-escalation Study of AAV2-hCHM in Participants With CHM (Choroideremia) Gene Mutations
NCT02407678	PHASE2	COMPLETED	REP1 Gene Replacement Therapy for Choroideremia
NCT02553135	PHASE2	COMPLETED	Choroideremia Gene Therapy Clinical Trial
NCT02671539	PHASE2	COMPLETED	THOR - Tübingen Choroideremia Gene Therapy Trial
NCT03507686	PHASE2	COMPLETED	A Safety Study of Retinal Gene Therapy for Choroideremia With Administration of BIIB111
NCT05282953	PHASE1/PHASE2	COMPLETED	A Phase I/II Dose-escalating Study of the Safety, Tolerability and Efficacy of KIO-301 Administered Intravitreally to Patients With Retinitis Pigmentosa and Choroideremia (ABACUS)
NCT04483440	PHASE1	ACTIVE_NOT_RECRUITING	Dose Escalation Study of Intravitreal 4D-110 in Patients With Choroideremia
NCT06460844	PHASE1	ACTIVE_NOT_RECRUITING	Study to Evaluate Safety of RTx-015 Injection in Retinitis Pigmentosa or Choroideremia Patients (ENVISION)
NCT01866371	Not specified	RECRUITING	High Resolution Retinal Imaging
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry
NCT05158049	Not specified	ENROLLING_BY_INVITATION	Longitudinal Study of a Bionic Eye
NCT06375239	Not specified	RECRUITING	Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
NCT06642532	Not specified	RECRUITING	A Prospective Observational Study of Transcranial Doppler Ultrasound in the Assessment of Cerebral Blood Flow After Polyetheretherketone Cranioplasty
NCT00427180	Not specified	UNKNOWN	IRIS PILOT - Extended Pilot Study With a Retinal Implant System
NCT01603576	Not specified	COMPLETED	Pilot Study of a Suprachoroidal Retinal Prosthesis
NCT01864486	Not specified	COMPLETED	Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy
NCT02670980	Not specified	COMPLETED	Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy
NCT02994368	Not specified	TERMINATED	Natural History Study of Choroideremia
NCT03359551	Not specified	COMPLETED	Natural History of the Progression of Choroideremia Study
NCT03406416	Not specified	COMPLETED	Study of a Suprachoroidal Retinal Prosthesis
NCT04750785	Not specified	COMPLETED	A Study to Assess Choroideremia (CHM) Health Outcomes
NCT04795206	Not specified	COMPLETED	Natural Disease Progression in Participants With Choroideremia
NCT05045703	Not specified	WITHDRAWN	The Dark-Adapted Retinal Function Response in Choroideremia (DARC) Study
NCT05134493	Not specified	COMPLETED	Embolic Signals Detection Study (Esds) in Candidates for Surgical Carotid Revascularisation
NCT05258032	Not specified	UNKNOWN	Structural and Functional Characterization of Rare Ocular Diseases
NCT05829200	Not specified	WITHDRAWN	Transcranial Doppler(TCD) Evaluation of High Intensity Transient Signals and Carotid Disease
NCT05903443	Not specified	COMPLETED	Research on the Brain Death Determination in China

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SIMVASTATIN	4	1
VITAMIN A PALMITATE	4	1
KIO-301	1	1