Advances in emerging therapeutics for oculopharyngeal muscular dystrophy
Bibliographic record
Abstract
Introduction: Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disease affecting approximately 1:100,000 people in Europe but has a significantly higher incidence in some countries such as Canada, Mexico, and among the Bukharan Jews, due to original founder effects. No cure is available for OPMD, and only surgical intervention provides temporary alleviation from the symptoms of the disease.Areas covered: Here, authors discuss the most promising emerging genetic and pharmaceutical therapeutics for OPMD currently in preclinical and clinical development.Expert opinion: At present, some very promising pharmacological treatments targeting aggregates formation are in preclinical development for OPMD with systemic delivery of trehalose currently in clinical trial. While reducing intranuclear inclusions has great potential on attenuating the symptoms, the genetic defect causing the disease is not directly targeted. The development of a gene therapy approach for OPMD based on local intramuscular delivery of adeno-associated viral vectors will hopefully provide significant safe and long-term improvement of the disease.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.009 | 0.003 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".