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Nervous System Diseases

Congenital Disorders

Small molecule drug

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Disease Domain	Count

Nervous System Diseases	4
Endocrinology and Metabolic Disease	1

Top 5 Drug Type	Count

Small molecule drug	5

Top 5 Target	Count

RYR1(Ryanodine receptor 1)	2
RyR(Ryanodine receptors)	1
RYR1 x RYR2 x RYR3	1
RYR2(Ryanodine receptor 2)	1

Author: Ruiz-Ederra, Javier ; Gilissen, Christian ; Cremers, Frans P M ; Lara-López, Araceli ; Ayuso, Carmen ; de Bruijn, Suzanne E ; Rodenburg, Kim ; Fernandez-Caballero, Lidia ; Irigoyen, Cristina ; Rodríguez-Hidalgo, María ; Ávila-Fernández, Almudena ; Corominas, Jordi ; Corradi, Zelia ; Valverde-Megías, Alicia ; Roosing, Susanne ; Del Pozo-Valero, Marta

Introduction: Inherited retinal dystrophies (IRDs) can be caused by variants in more than 280 genes. The ATP-binding cassette transporter type A4 (ABCA4) gene is one of these genes and has been linked to Stargardt disease type 1 (STGD1), fundus flavimaculatus, cone-rod dystrophy (CRD), and pan-retinal CRD. Approximately 25% of the reported ABCA4 variants affect RNA splicing. In most cases, it is necessary to perform a functional assay to determine the effect of these variants. Methods: Whole genome sequencing (WGS) was performed in one Spanish proband with Stargardt disease. The putative pathogenicity of c.6480-35A>G on splicing was investigated both in silico and in vitro. The in silico approach was based on the deep-learning tool SpliceAI. For the in vitro approach we used a midigene splice assay in HEK293T cells, based on a previously established wild-type midigene (BA29) containing ABCA4 exons 46 to 48. Results: Through the analysis of WGS data, we identified two candidate variants in ABCA4 in one proband: a previously described deletion, c.699_768+342del (p.(Gln234Phefs*5)), and a novel branchpoint variant, c.6480-35A>G. Segregation analysis confirmed that the variants were in trans. For the branchpoint variant, SpliceAI predicted an acceptor gain with a high score (0.47) at position c.6480-47. A midigene splice assay in HEK293T cells revealed the inclusion of the last 47 nucleotides of intron 47 creating a premature stop codon and allowed to categorize the variant as moderately severe. Subsequent analysis revealed the presence of this variant as a second allele besides c.1958G>A p.(Arg653His) in an additional Spanish proband in a large cohort of IRD cases. Conclusion: A splice-altering effect of the branchpoint variant, confirmed by the midigene splice assay, along with the identification of this variant in a second unrelated individual affected with STGD, provides sufficient evidence to classify the variant as likely pathogenic. In addition, this research highlights the importance of studying non-coding regions and performing functional assays to provide a conclusive molecular diagnosis.

Journal of Clinical Medicine

Subretinal Injection Techniques for Retinal Disease: A Review

Review

Author: Ruiz-Ederra, Javier ; Amenabar Alonso, Asier ; Irigoyen, Cristina ; Lara-López, Araceli ; Rodríguez-Hidalgo, María ; Sanchez-Molina, Jorge

Inherited retinal dystrophies (IRDs) affect an estimated 1 in every 2000 people, this corresponding to nearly 2 million cases worldwide. Currently, 270 genes have been associated with IRDs, most of them altering the function of photoreceptors and retinal pigment epithelium. Gene therapy has been proposed as a potential tool for improving visual function in these patients. Clinical trials in animal models and humans have been successful in various types of IRDs. Recently, voretigene neparvovec (Luxturna®) has been approved by the US Food and Drug Administration for the treatment of biallelic mutations in the RPE65 gene. The current state of the art in gene therapy involves the delivery of various types of viral vectors into the subretinal space to effectively transduce diseased photoreceptors and retinal pigment epithelium. For this, subretinal injection is becoming increasingly popular among researchers and clinicians. To date, several approaches for subretinal injection have been described in the scientific literature, all of them effective in accessing the subretinal space. The growth and development of gene therapy give rise to the need for a standardized procedure for subretinal injection that ensures the efficacy and safety of this new approach to drug delivery. The goal of this review is to offer an insight into the current subretinal injection techniques and understand the key factors in the success of this procedure.

100 Deals associated with Miramoon Pharma SL

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100 Translational Medicine associated with Miramoon Pharma SL

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Pipeline

Pipeline Snapshot as of 23 Nov 2024

The statistics for drugs in the Pipeline is the current organization and its subsidiaries are counted as organizations,Early Phase 1 is incorporated into Phase 1, Phase 1/2 is incorporated into phase 2, and phase 2/3 is incorporated into phase 3

Preclinical

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Current Projects

Drug(Targets)	Indications	Global Highest Phase

Alzheimer's disease (Miramoon Pharma) ( RYR1 x RYR2 x RYR3 )	Alzheimer Disease More	Preclinical
MP-010 ( RyR )	Amyotrophic Lateral Sclerosis More	Preclinical
Myotonic dystrophy type l (Miramoon Pharma) ( RYR1 )	Myotonic Dystrophy More	Preclinical
Duchenne muscular dystrophy (Miramoon Pharma) ( RYR1 )	Muscular Dystrophy, Duchenne More	Preclinical
MP-004 (Miramoon Pharma) ( RYR2 )	Retinitis Pigmentosa More	Preclinical