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Klinična preskušanja, ki potekajo v strokovnih centrih ERN-EYE članic, po boleznih

S klikom na naziv preizkušanja se odpre opis preskušanja

 

Horoideremija

A Multicenter Prospective Observational "Natural History" Study in Patients With Choroideremia (choroideremia)

CIL 34546-NSR-REP-01 (Choroideremia)

SOLSTICE (Choroideremia)

STAR (Choroideremia)

NIGHT (Choroideremia)

GEMINI (Choroideremia)

THOR (Choroideremia (phenotype + approved molecular diagnosis))

 

Pigmentna retinopatija

A Dose Escalation, Phase 1/2 Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Using an Adeno-Associated Viral Vector (AAV8) Encoding Retinitis Pigmentosa GTPase Regulator (RPGR)

XOLARIS - Natural history of the progression of X-linked retinitis pigmentosa (X-linked retinitis pigmentosa, Germany)

XOLARIS - Natural history of the progression of X-linked retinitis pigmentosa (X-linked retinitis pigmentosa, France)

XOLARIS- Natural history of the progression of X-linked retinitis pigmentosa (X-linked retinitis pigmentosa, UK)

XIRIUS (X-linked RP)

Rate of Progression in USH2A Related Retinal Degeneration (RUSH2A) (Retinitis pigmentosa, Usher Syndrome)

Retinitis pigmentosa: molecular diagnosis by next generation sequencing (inherited retinal dystrophy)

Therapeutic management of patients with cystoid macular edema secondary (retinitis pigmentosa)

Study of the Efficacy and Safety of QLT091001 in Subjects with Inherited Retinal Disease (IRD) Caused by Mutation in Retinal Pigment Epithelium Protein 65 (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) (Retinitis pigmentosa; Inherited Retinal Disease caused by Mutation in RPE65 or LRAT genes)

VITAL (USHER syndrome induced by MYO7A mutation and retinotosis pigmentosa)

Argus® II Retinal Stimulation System Feasibility Protocol (retinotosis pigmentosa)

Argus® II Retinal Prosthesis System: Post-Market Study (retinotosis pigmentosa)

Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B (Retinitis Pigmentosa Associated With Usher Syndrome Type 1B)

Clinical implication of Retinitis Pigmentosa molecular diagnostic using high throughput sequencing (RP-SEQ-HD)

Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6B Expression

Study to Evaluate Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa Due to Mutations in Exon 13 of the USH2A Gene (Stellar)

Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa (PIONEER)

 

Leberjeva kongenitalna amavroza

An open label dose escalation clinical trial to evaluate the safety and the tolerability of gs010 (Leber hereditary optic neuropathy)

Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation (RESCUE) (Leber hereditary optic neuropathy)

Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber's Hereditary Optic Neuropathy (LHON) (Leber's Hereditary Optic Neuropathy)

REVERSE (Leber hereditary optic neuropathy (LHON))

Historical Case Record Survey of Visual Acuity Data From Patients With Leber’s Hereditary Optic Neuropathy (LHON)

Efficacy and safety of QLT091001 in subjects with Inherited Retinal Disease (IRD) caused by gene mutations

NCT03913143 - ILLUMINATE

Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients

Efficacy & Safety Study of Bilateral Intravitreal Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year (REFLECT)

 

Nevrotrofični keratitis

Evaluation of safety and efficacy of r-hNGF (Neurotrophic Keratitis)

 

Stargardtova bolezen

Natural History of the Progression of Atrophy Secondary (Stargardt Disease type 4)

Phase I/IIa Study of SAR422459 in Patients With Stargardt's Macular Degeneration (Stargardt's disease)

A Study to Determine the Long Term Safety, Tolerability and Biological Activity of SAR422459 in Patients With Stargardt's Macular Degeneration (Stargardt's disease)

Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease (MADEOS)

 

Hereditary retinal disease

CURETINA (hereditary retinal degenerations caused by mutations in genes CRB1, CRX, PROM1)

RET-IRD-04 (LCA RPE65)

ReCOVER (This trial does use Clemastine fumarat as a remyelinating agent targeting the muscarinic receptor on oligodendrocytes around the optic nerve)

 

Z CNGA3-povezana akromatopsia

CNGA3 (CNGA3-linked achromatopsia)

 

Argus II

Argus II retinal prosthesis system post- market surveillance study protocol (inherited retinal dystrophy & choroidal dystrophy)

Argus® II Retinal Stimulation System Feasibility Protocol (retinotosis pigmentosa)

Argus® II Retinal Prosthesis System: Post-Market Study (retinotosis pigmentosa)

 

Glaukom

Long-Term Non-Interventional Latanoprost Study (LYNX) (congenital glaucoma)

 

Usherjev sindrom

VITAL (USHER syndrome induced by MYO7A mutation and retinotosis pigmentosa)

Rate of Progression in USH2A Related Retinal Degeneration (RUSH2A) (Retinitis pigmentosa, Usher Syndrome)

Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B (Retinitis Pigmentosa Associated With Usher Syndrome Type 1B)

Open-Label Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B (Usher Syndrome)

Light4deaf study: study of the natural history of the syndrome of usher in a cohort of patients followed longitudinally for 5 years  (Usher Syndrome)

Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B (Retinitis Pigmentosa Associated With Usher Syndrome Type 1B)

Study to Evaluate Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa Due to Mutations in Exon 13 of the USH2A Gene (Stellar)

  

Horioretinopatija

SPECTRA trial (central serous chorioretinopathy)

 

Distrofija mrežnice

Compensation for blindness with the Intelligent Retinal Implant System (IRIS V2) (retinal dystrophy)

Nanometer-controlled cut-off filters in real-life self-reported quality of vision of patients with retinitis pigmentosa (inherited retinal dystrophy)

Riluzole in patients with spinocerebellar ataxia type 7: a randomized, double-blind, placebo-controlled pilot trial with a lead in phase

Natural History Study of CEP290-Related Retinal Degeneration

 

Register kongenitalnih katarakt

Factors affecting sight development in congenital cataract patients (congenital cataract registry)

  

Alström Syndrome

Clinical Study of a single ciliopathy: Alström Syndrome

 

Trisomija 21

Trisomy 21 in Adulthood : a medical and social situation in Alsace

 



Retinal Rare Eye Diseases (WG1)

Leber Congenital Amaurosis

Skin-to-Eye Study

NCT03359551

Choroideremia

Night

NCT03975543

Retinitis Pigmentosa, Pediatric clinical trials

PHENOROD1

NCT02671539

Choroideremia

THOR

NCT02110225

Retinitis Pigmentosa

LUMOS

NCT03490019

Bardet-Biedl, Pediatric clinical trials

BBS

NCT04405882

Hereditary retinal disease

Cornea Ectasia Excimer Laser Treatment

NCT02771236

Hereditary retinal disease, Pediatric clinical trials

Clinical and Molecular Studies in Families With Inherited Eye Disease

NCT03662386

Hereditary retinal disease, Pediatric clinical trials

GEPHIRD

NCT03772665

Stargardt Disease, Pediatric clinical trials

SeaSTAR

NCT01496040

Leber Congenital Amaurosis, Pediatric clinical trials

Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65

NCT03913143

Leber Congenital Amaurosis, Pediatric clinical trials

ILLUMINATE

NCT03116113

Retinitis Pigmentosa, Pediatric clinical trials

XIRIUS

Leber Congenital Amaurosis

GENPHENACL

NCT01521793

Retinitis Pigmentosa, Leber Congenital Amaurosis, Pediatric clinical trials

RET IRD 02

NCT02575430

Leber Congenital Amaurosis, Pediatric clinical trials

RET NAT 01

NCT02410122

Stargardt Disease

PROGSTAR-4 STUDY

NCT02890550

Alström Syndrome, Pediatric clinical trials

Clinical Study of a single ciliopathy: Alström Syndrome

NCT03496012

Choroideremia

STAR

NCT01461213

Choroideremia

CIL 34546-NSR-REP-01

NCT01505062

Retinitis Pigmentosa, Usher Syndrome, Pediatric clinical trials

Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B

NCT01835002

Retinitis Pigmentosa

TESOLA

NCT03963154

Retinitis Pigmentosa

STREAM

NCT03326336

Retinitis Pigmentosa

PIONEER

NCT03780257

Retinitis Pigmentosa

STELLAR

NCT04128150

Other, Pediatric clinical trials

High Resolution Retina Imaging (IHR)

CURETINA

Hereditary retinal disease, Pediatric clinical trials

CURETINA

RET-IRD-04

Leber Congenital Amaurosis

RET-IRD-04

LIGHT4DEAF

Usher Syndrome, Pediatric clinical trials

LIGHT4DEAF

VITAL

Retinitis Pigmentosa, Pediatric clinical trials

VITAL

VITAL

Usher Syndrome, Pediatric clinical trials

VITAL

NCT01954953

Usher Syndrome, Pediatric clinical trials

EURUSH

NCT03297515

Stargardt Disease

MADEOS

NCT03507686

Choroideremia

Gemini

NCT03584165

Choroideremia

SOLSTICE

EudraCT 2016-003705-34

Retinitis Pigmentosa

PIGMENT – PDE6A gene therapy for retinitis pigmentosa

NCT04285398

Retinitis Pigmentosa

PHENOROD2

NCT02610582

CNGA3-linked achromatopsia

CNGA3

NCT03940690

Other, Pediatric clinical trials

COATS-VEGF

NCT00481546

Hereditary retinal disease, Pediatric clinical trials

LCA

NCT03913130

Leber Congenital Amaurosis, Pediatric clinical trials

INSIGHT

TESOLAUK - NCT01847365

Retinitis Pigmentosa

TES for the Treatment of Retinitis Pigmentosa (RP)

NCT00407602

Other, Pediatric clinical trials

Argus® II Retinal Stimulation System Feasibility Protocol

NCT03146078

Retinitis Pigmentosa, Usher Syndrome, Pediatric clinical trials

RUSH2A

REGENERATE - NCT02407678

Choroideremia

REP1 Gene Replacement Therapy for Choroideremia

NCT03780257

Usher Syndrome

STELLAR

NCT00407602

Retinitis Pigmentosa, Pediatric clinical trials

Argus® II Retinal Stimulation System Feasibility Protocol

NCT03314207

Retinitis Pigmentosa

XOLARIS

NCT03814499

Usher Syndrome, Pediatric clinical trials

Natural History Study in Subjects With Usher Syndrome

NCT04525261

Retinitis Pigmentosa

RPE65-NHS

NCT03079141

Chorioretinopathy, Pediatric clinical trials

SPECT

NCT02521311

Hereditary retinal disease

RECOVER



Neuro-Ophthalmology Rare Diseases (WG2)

NCT01265719

Glaucoma, Pediatric clinical trials

LYNX

NCT02176733

Leber Hereditary Optic Neuropathy (LHON)

CICLO-NOHL

NCT01522638

Other, Pediatric clinical trials

ADOA

NCT02771379

Leber Hereditary Optic Neuropathy (LHON)

PAROS

NCT01892943

Leber Hereditary Optic Neuropathy (LHON), Pediatric clinical trials

Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey

NCT03293524

Leber Hereditary Optic Neuropathy (LHON)

REFLECT

NCT02796274

Leber Hereditary Optic Neuropathy (LHON), Pediatric clinical trials

Historical Case Record Survey of Visual Acuity Data From Patients With Leber’s Hereditary Optic Neuropathy (LHON)

NCT04561466

Leber Hereditary Optic Neuropathy (LHON)

BÉFINOHL

2020-004594-43

Wolfram, Pediatric clinical trials

AUDIOWOLF

NCT03295071

Leber Hereditary Optic Neuropathy (LHON), Pediatric clinical trials

REALITY

NCT02652767

Leber Hereditary Optic Neuropathy (LHON)

RESCUE

NCT02652780

Leber Hereditary Optic Neuropathy (LHON), Pediatric clinical trials

REVERSE

2017-001215-37

Wolfram, Pediatric clinical trials

Treratwolfram

NCT02521311

Hereditary retinal disease

RECOVER

NCT03406104

Leber Hereditary Optic Neuropathy (LHON), Pediatric clinical trials

RESCUE/REVERSE



Pediatric Ophthalmology Rare Diseases (WG3)



Low Vision, Daily Life and Patients Groups (TWG5)



Genetic Diagnostics (TWG6)



Registries & Epidemiology (TWG7)



Research (TWG8)



Education, Training and Guideline Frame (TWG9)



Communication, Management & Quality (TWG10)



ePag



ERN-EYE Coordinating committee



BBS Guidelines

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