THOR - Tübingen Choroideremia Gene Therapy Trial (THOR)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02671539|
Recruitment Status : Completed
First Posted : February 2, 2016
Last Update Posted : October 27, 2020
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|Condition or disease||Intervention/treatment||Phase|
|Choroideremia||Genetic: rAAV2.REP1||Phase 2|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||6 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||THOR - Tübingen Choroideremia Gene Therapy Trial Open Label Phase 2 Clinical Trial Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)|
|Actual Study Start Date :||January 2016|
|Actual Primary Completion Date :||February 2018|
|Actual Study Completion Date :||February 2018|
Experimental: open label injection of rAAV2.REP1
This is an open label, single arm interventional trial with subretinal injection of rAAV2.REP1 and fellow eye comparison
single subretinal injection
- best corrected visual acuity in treated eye [ Time Frame: up to 24 months after vector administration ]Change from baseline in best corrected visual acuity in treated eye, compared to untreated control eye up to 24 months after vector administration
- Absence of vector-related adverse reactions [ Time Frame: 24 months after vector administration ]
- fundus autofluorescence analysis [ Time Frame: 24 months after vector administration ]improved retinal anatomy in treated eye compared to the untreated control eye 24 months after vector administration
- central visual field using microperimetry readings [ Time Frame: 24 months after vector administration ]improved visual function in treated eye compared to the untreated control eye 24 months after vector administration
- contrast sensitivity [ Time Frame: 24 months after vector administration ]improved visual function other than best corrected visual acuity in treated eye compared to the untreated control eye 24 months after vector administration (scale)
- colour vision [ Time Frame: 24 months after vector administration ]improved visual function other than best corrected visual acuity in treated eye compared to the untreated control eye 24 months after vector administration (physiological parameter)
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|Ages Eligible for Study:||18 Years and older (Adult, Older Adult)|
|Sexes Eligible for Study:||Male|
|Accepts Healthy Volunteers:||No|
- Participant is willing and able to give informed consent for participation in the study.
- Male aged 18 years or above.
- Genetically confirmed diagnosis of choroideremia. Patients without a confirmed mutation in the CHM gene, but who have the clinical phenotype typical of choroideremia can only be enrolled if they meet all the following three criteria: (i) family history consistent with X-linked inheritance, (ii) absent REP1 protein on Western blot of a blood sample and, (iii) normal RPE65 gene on sequencing.
- Active disease visible clinically within the macula region
- Best-corrected visual acuity equal to or worse than 6/9 (20/32; Decimal 0.63; LogMAR 0.2) but better than or equal to 6/60 (20/200; Decimal 0.1; LogMAR 1.0) in the study eye.
- Female and child participants (under the age of 18)
- Participants with a history of amblyopia in the study eye
- Men unwilling to use barrier contraception methods, if relevant
- Absence of quantifiable visual function in the fellow eye or other ocular morbidity which might confound use of the fellow eye as a long-term control.
- Any other significant ocular and non-ocular disease/disorder or retinal surgery which, in the opinion of the Investigator, may either put the participants at risk because of participation in the study, or may influence the results of the study, or the participant's ability to participate in the study. This would include not taking or having a contraindication to oral prednisolone, such as a history of gastric ulcer or significant side effects.
- Participants who have participated in another research study involving an investigational product in the past 12 weeks, or having had gene or cellular therapy at any time prior to this study.
- Patients with amblyopic eyes should be excluded in general, since the evaluation of the primary endpoint presupposes the ability to fixate both eyes
- Prior intraocular surgery within six months
- Intolerance to local anesthesia and/or contraindication to IVT surgery (anemia Hb<8g/dl, severe cardiovascular disease, severe coagulopathy, etc.)
- High fever or high fever disease, patients with a history of autoimmune conditions/ other systemic diseases that may have ocular manifestations (e.g. sarcoidosis) or neurodegenerative conditions (e.g. multiple sclerosis, neuromyelitis optica, Parkinson's disease)
- Patients suffering from other genetic mutations leading to pathological retinal conditions
- Patients treated by oral corticoids within 14 days prior inclusion at the study entry
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02671539
|University Hospital Tuebingen, Center for Ophthalmology|
|Tuebingen, Germany, 72076|
|Principal Investigator:||Manuel D Fischer, MD, PhD||Centre for Ophthalmology, University Hospital Tübingen, Germany|
|Responsible Party:||STZ eyetrial|
|Other Study ID Numbers:||
|First Posted:||February 2, 2016 Key Record Dates|
|Last Update Posted:||October 27, 2020|
|Last Verified:||October 2020|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||No|
hereditary retinal degeneration
Eye Diseases, Hereditary
Genetic Diseases, Inborn
Genetic Diseases, X-Linked