Cystoid Macular Edema in inherited retinal dystrophies
Conditions
Interventions
Trade Name: Diamox
Pharmaceutical Form:
INN or Proposed INN: Acetazolamide
CAS Number: 59-66-5
Sponsors
None listed
Eligibility
Sex/Gender
All
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) Are the trial subjects under 18? yes Number of subjects for this age range: 6 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 6 F.1.3 Elderly (>=65 years) yes F.1.3.1 Number of subjects for this age range 6
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Our study objective is to evaluate the efficacy of acetazolamide for the treatment of cystoid macula edema in inherited retinal dystrophies in anticipation of future clinical trials. ;Secondary Objective: 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;Primary end point(s): 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. ;Timepoint(s) of evaluation of this end point: Investigator-initiated, single-center, prospective, experimental study consisting of seven visits at 2, 4, 8, 12, 16, and 32 weeks after baseline evaluation visit. During each visit participants will perform several ophthalmological measurements | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): is there rebound after halving the dosis?;Timepoint(s) of evaluation of this end point: week 16 | — |
Countries
Netherlands
Outcome results
None listed