Inherited retinal dystrophies Inhertited retinal diseases
Conditions
Interventions
The used intervention in this study is acetazolamide, which belongs to a class
of drugs known as carbonic anhydrase inhibitors and has been used with other
medications to treat high pressure inside
Sponsors
Amsterdam UMC
Eligibility
Age
12 Years to 99 Years
Inclusion criteria
Inclusion criteria: Eligible patients received a clinical diagnosis of IRD, and underwent at least one clinical examination, in combination with one of the following prerequisites: • IRD associated with causal genetic variant(s) (in e.g., USH2A, CRB1, RHO, RP1, RP2, RPGR, PRPF31, or RS1 gene) • CME involving the fovea confirmed on spectral-domain optical coherence tomography (OCT)
Exclusion criteria
Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: • Eyes will be excluded when the visual dysfunction is also significantly associated with other ocular diseases besides the IRDs (e.g., glaucoma, perforating trauma). • Patients treated with loop diuretics • Severe hepatic impairment • Severe renal insufficiency • Sodium and Potassium Depletion • Addison's disease • Hyperchloremic Acidosis • Cor pulmonale • Chronic non-congestive angle-closure glaucoma • The use of Acetazolamide • • Patients treated with interacting medication such as: o Folic acid antagonists: methotrexate, trimethoprim and pyrimethamine o Hypoglycaemics o Oral anti-coagulants o Asprin o Cardiac glycosides: digoxine o diuretics, such as thiazides and loop diuretics: o anticonvulsants such as: phenytoin, primidone and carbamazepine o Carbonic Anhydrase Inhibitors o Procaine o Sodium hydrogen carbonate o Cyclosporine o Ephedrine, methadone, amphetamine, quinidine and lithium
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main endpoint is the to determine the effective dosage, the outcome of the treatment, and the effect on the visual acuity. As such, these findings will have immediate impact on translational scientific progress, by applying cutting-edge multidisciplinary technology to facilitate patient identification and selection for novel treatments. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary study endpoints include the following compared within the treated group and compared to control group: 1) To determine the optimal acetazolamide dose for maximum effect on CME and minimal side effects 2) To determine the intra- and inter individual variability in such treatment- and side effects 3) To determine the proportion of IRD patients with CME in which acetazolamide treatment is able to completely resolve CME for a spectrum of different IRD-associated genes | — |
Countries
Netherlands
Outcome results
None listed