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Spotlight On
Retinitis Pigmentosa (RP)
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes a progressive loss of vision
Prevalence
20-30/100,000
Age of Onset
ICD-10
H35.5
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
1
The underlying mechanism involves the progressive loss of rod photoreceptor cells.
FACT
2
The first sign of RP usually is night blindness.
FACT
3
As the condition progresses, affected individuals develop tunnel vision and eventually loss of central vision.
FACT
4
RP may be caused by mutations in any of at least 50 genes.
FACT
5
Inheritance can be autosomal dominant, autosomal recessive, or X-linked.
Interest over time
Google searches
Common signs & symptoms
Abnormality of retinal pigmentation
Acanthosis nigricans
Darkened and thickened skin
Hypergonadotropic hypogonadism
Decreased testicular size
Small testicles
Gynecomastia
Enlarged male breast
Hyperinsulinemia
Current treatments
Gene therapy
Retinal transplantation
Use of a retinal prosthesis
Voretigene neparvovec-rzyl(Brand name: Luxturna)
Manufactured by Spark Therapeutics, Inc
FDA-approved indication: An adeno-associated virus vector-based gene therapy indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. Patients must have viable retinal cells determined by a treating physician.
Top Clinical Trials
| Title | Description | Phases | Status | Interventions | More Information |
|---|---|---|---|---|---|
| A Study in Subjects With Retinitis Pigmentosa | An open-label Phase II clinical trial, 8 (eight) subjects with retinitis pigmentosa due to rhodopsin mutations (including P23H) will be identified and treated with serial intravitreal injections of ADX-2191 in the worse seeing eye. Ocular structure and function will be evaluated. | Phase 2 | Recruiting | Drug: ADX-2191 | More info |
| Oral N-acetylcysteine for Retinitis Pigmentosa | The primary efficacy objective is to determine if the progressive loss in EZ width measured as the cumulative loss of EZ (calculated as the area above the curve) between baseline and month (M) 45 is significantly less in eyes of participants taking NAC 1800 mg bid compared with that in eyes of participants taking placebo. The safety objective is to evaluate the long-term safety and tolerability of oral NAC for 45 months. | Phase 3 | Not yet recruiting | Drug: N-acetylcysteine|Drug: Placebo | More info |
| Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene | A clinical trial of AAV5-RPGR vector for patients with X-linked retinitis pigmentosa (XLRP) | Phase 3 | Recruiting | Biological: Genetic: AAV5-RPGR | More info |
| Follow-up Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene | A clinical trial of AAV5-RPGR vector for patients with X-linked retinitis pigmentosa (XLRP) | Phase 3 | Recruiting | Biological: Genetic: AAV5-RPGR 4e11|Biological: Genetic: AAV5-RPGR 2e11 | More info |
| Sildenafil for Treatment of Choroidal Ischemia | The hypothesis of this study is to determine if there is a benefit afforded by the use of systemic Sildenafil to patients with choroidal and retinal degenerations and dystrophies, such as vitelliform degeneration, dry and reticular age-related macular degeneration (AMD) as well as patients with hereditary and acquired retinal dystrophies such as retinitis pigmentosa and central serous retinopathy. | Phase 2 | Recruiting | Drug: Sildenafil|Other: Standard of Care Sildenafil|Diagnostic Test: Ocular Coherence Tomography-Angiography (OCT-A)|Other: Visual Acuity (VA) | More info |
Top Treatments in Research
| Agent | Class/Mechanism of Action | Development Status | Company | Clinical Studies | More Information |
|---|---|---|---|---|---|
| Drug: ADX-2191 | ADX-2191 (methotrexate injection, USP) is a sterile, non-compounded intravitreal formulation of methotrexate for the potential prevention or treatment of specific rare retinal diseases, including primary vitreoretinal lymphoma, proliferative vitreoretinopathy, and retinitis pigmentosa. The ADX-2191 intravitreal formulation is preservative-free, is designed to be vitreous-compatible, and is optimized for excipient composition, viscosity, density, tonicity, pH, concentration, and volume of administration. ADX-2191 has received FDA Orphan Drug Designation for the prevention of proliferative vitreoretinopathy, and for the treatment of primary vitreoretinal lymphoma and retinitis pigmentosa. | Phase 2 | Aldeyra Therapeutics, Inc. | More info | More info |
| Drug: N-acetylcysteine | In addition to its antioxidant action, NAC acts as a vasodilator by facilitating the production and action of nitric oxide. This property is an important mechanism of action in the prophylaxis of contrast-induced nephropathy and the potentiation of nitrate-induced vasodilation. | Phase 3 | Johns Hopkins University | More info | More info |
| Biological: Genetic: AAV5-RPGR | AAV5-RPGR is an investigational gene therapy product. It is delivered via subretinal injection targeting the central retina in the eye that was more affected at baseline. | Phase 3 | MeiraGTx UK II Ltd|Janssen Research & Development, LLC | More info | More info |
† National Eye Institute