Extensive molecular profiling of KRAS wild-type as compared to KRAS mutated pancreatic ductal adenocarcinoma on 318 patients.

Purpose: Molecular profiling is increasingly implemented to guide treatment of advanced pancreatic ductal adenocarcinoma (PDAC), especially when for clinical trials enrollment. This study aimed to describe actionable alterations detected in KRAS mutated (KRASm) versus KRAS wild-type (KRASwt) PDAC, the latter group being considered enriched in molecular alterations.

Methods: This prospective monocentric study included patients with locally advanced or metastatic PDAC who underwent next-generation sequencing (NGS) on liquid biopsy and/or tissue samples between 2015 and 2023, as part of the BIP academic study (NCT02534649).

Tumor fraction-based prognostic tool for cancer patients referred to early phase clinical trials.

Selecting patients for phase I cancer trials is crucial to ensure a sufficient life expectancy. Frail patients, better suited for palliative care, should not be exposed to new drugs with minimal benefit. Enrolling patients at high risk of early death can jeopardize the study.

Neurotrophic Factors in the Treatment of Inherited Retinal Diseases.

Inherited retinal diseases (IRDs) are the leading cause of blindness in working-age individuals worldwide. Their genetic etiology is especially heterogenous, so the development of gene-specific therapies is unlikely to meet the medical needs of the entire patient community. Considering these challenges, a complementary strategy could be to develop therapies independent of the underlying gene variant causing retinal degeneration.

Design of Instructional Videos for People with Autism Who Want to Learn About Grocery Store Work: A Community, Business, Educational and Health Partnership.

To facilitate the integration of people with autism into the food industry labour market, this cross sectoral project aimed to design, validate and test instructional videos to concretely demonstrate various tasks in the grocery store, and to probe interest and assess knowledge about these tasks. Results are the delivery of 21 instructional videos validated for individuals with autism and 21 for mentors in grocery.

Mobility Testing and Other Performance-Based Assessments of Functional Vision in Patients with Inherited Retinal Disease.

In the field of clinical ophthalmology, many of the common visual function study end points do not effectively reflect the significant morbidity of inherited retinal diseases (IRDs) and its effect on the patient's quality of life. In the last decade, emphasis has been placed on the development and implementation of patient-performance or task-focused end points, that may have greater ability to demonstrate the improvement or preservation of the patient's quality of life provided by therapeutic interventions. This article reviews performance-based tools developed to assess functional vision, such as the multi-luminance mobility test (MLMT) or the functional low-vision observer-rated assessment (FLORA), and highlights some of the recent advancements used in clinical development for IRD or ocular interventional therapies.

Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study.

Background: RESCUE and REVERSE were 2 Phase 3 clinical trials that assessed the efficacy and safety of intravitreal gene therapy with lenadogene nolparvovec (rAAV2/2-ND4) for the treatment of Leber hereditary optic neuropathy (LHON). RESTORE is the long-term follow-up study of subjects treated in the RESCUE and REVERSE trials.

Methods: In RESCUE and REVERSE, 76 subjects with LHON because of the m.

Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies.

Objective: This report presents a cross-sectional analysis of the baseline characteristics of subjects with Leber hereditary optic neuropathy enrolled in the gene therapy trials RESCUE and REVERSE, to illustrate the evolution of visual parameters over the first year after vision loss.

Methods: RESCUE and REVERSE were 2 phase III clinical trials designed to assess the efficacy of rAAV2/2-ND4 gene therapy in ND4-LHON subjects. At enrollment, subjects had vision loss for ≤6 months in RESCUE, and between 6 and 12 months in REVERSE.

Partial recovery of visual function in a blind patient after optogenetic therapy.

Optogenetics may enable mutation-independent, circuit-specific restoration of neuronal function in neurological diseases. Retinitis pigmentosa is a neurodegenerative eye disease where loss of photoreceptors can lead to complete blindness. In a blind patient, we combined intraocular injection of an adeno-associated viral vector encoding ChrimsonR with light stimulation via engineered goggles.

Characterization of the novel HLA-DPB1*1139:01 allele by sequencing-based typing.

HLA-DPB1*1139:01 differs from HLA-DPB1*04:01:01:03 by one nucleotide substitution in codon 15 in exon 2.

Characterization of the novel HLA-DRB1*11:282 allele by sequencing-based typing.

HLA-DRB1*11:282 differs from HLA-DRB1*11:04:01:01 by one nucleotide substitution in codon 41 in exon 2.

Characterization of the novel HLA-C*05:01:58 allele by sequencing-based typing.

HLA-C*05:01:58 differs from HLA-C*05:01:01:02 by a single nucleotide change in codon 112 in exon 3.

Characterization of the novel HLA-A*36:12 allele by sequencing-based typing.

HLA-A*36:12 differs from HLA-A*36:01:01:01 by one nucleotide substitution in codon 211 in exon 4.

Characterization of the novel HLA-DQA1*03:20 allele by sequencing-based typing.

HLA-DQA1*03:20 differs from HLA-DQA1*03:03:01:01 by one nucleotide substitution in codon 33 in exon 2.

Characterization of the novel HLA-A*01:367 allele by sequencing-based typing.

HLA-A*01:367 differs from HLA-A*01:01:01:01 by one nucleotide substitution in codon 271 in exon 4.

Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.

Background/objectives: REALITY is an international observational retrospective registry of LHON patients evaluating the visual course and outcome in Leber hereditary optic neuropathy (LHON).

Subjects/methods: Demographics and visual function data were collected from medical charts of LHON patients with visual loss. The study was conducted in 11 study centres in the United States of America and Europe.

Characterization of the novel HLA-C*06:314 allele by sequencing-based typing.

HLA-C*06:314 differs from HLA-C*06:02:01:01 by one nucleotide substitution in codon 327 in exon 7.

Factors affecting dairy calf price in auction markets in Québec, Canada: 2008-2019.

Dairy calves not kept for replacement are sold at young age in Québec auction markets for white and grain-fed veal calf production. The province of Québec produces 80% of the Canadian veal meat, but little information is available on the factors associated with the calves' price per crude weight (Can$/kg; Can$1 = US$0.78 at time of writing).

Characterization of the novel HLA-DPA1*01:44 allele by sequencing-based typing.

HLA-DPA1*01:44 differs from DPA1*01:03:01:04 by one nucleotide substitution in codon 175 in exon 3.

Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.

Purpose: To evaluate the efficacy of a single intravitreal injection of rAAV2/2-ND4 in subjects with visual loss from Leber hereditary optic neuropathy (LHON).

Design: RESCUE is a multicenter, randomized, double-masked, sham-controlled, phase 3 clinical trial.

Participants: Subjects with the m.

Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy.

REVERSE is a randomized, double-masked, sham-controlled, multicenter, phase 3 clinical trial that evaluated the efficacy of a single intravitreal injection of rAAV2/2- in subjects with visual loss from Leber hereditary optic neuropathy (LHON). A total of 37 subjects carrying the m.11778G>A () mutation and with duration of vision loss between 6 to 12 months were treated.