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So die Publikation aus China

zum Abstract des Originalbeitrage

Ein damals 9 Jähriges Mädchen wurde in einer Kinderklinik untersucht,
aufgrund fehlenden Haarwuchses.
Es wurden  keine ophthalmologischen Veränderungen festgestellt, was nicht zu erwarten ist bei einer HJMD. 
Wir haben leider keine näheren Details.

Zur Publikation als PDF

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia(2019)

The photoreceptors of the retina are afflicted by diseases that still often lack satisfactory treatment options. Although suitable drugs might be available in some cases, the delivery of these compounds into the eye and across the blood–retinal barrier remains a significant challenge for therapy development. Here, we review the routes of drug administration to the retina and highlight different options for drug delivery to the photoreceptor cells.

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Quelle:
https://www.sciencedirect.com/science/article/pii/S1359644618305117?via%3Dihub

The technology behind the eye drops is a cell-penetrating peptide that can deliver the drug to the retina (the back of the eye).
Link zum Artikel auf Drugtargetreview

Schöne Präsentation über Eloxx und den Wirkstoff Elx-02
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Abstract
ELX‐02 is an investigational synthetic eukaryotic ribosome–selective glycoside optimized as a translational read‐through molecule that induces read through of nonsense mutations, resulting in normally localized full‐length functional proteins. ELX‐02 is being developed as a therapy for genetic diseases caused by nonsense mutations. Two phase 1a, randomized, double‐blind placebo‐controlled, single‐ascending‐dose studies were conducted in healthy human subjects to evaluate the safety and pharmacokinetics of ELX‐02. Single subcutaneously injected doses of ELX‐02 between 0.3 mg/kg and 7.5 mg/kg showed an acceptable safety profile without severe or serious drug‐related adverse events, including a lack of renal and ototoxicity events. Injection of ELX‐02 resulted in a rapid time to peak concentration and elimination phase, with complete elimination from the vascular compartment within 10 hours. ELX‐02 area under the concentration‐time curve to infinity showed dose‐exposure linearity (24‐fold increase for a 25‐fold dose increase), and the maximum concentration showed dose proportionality (17‐fold increase for a 25‐fold increase). The mean apparent volume of distribution was dose dependent, suggesting an increased distribution and tissue uptake of ELX‐02 at higher doses. The primary route of excretion was in the urine, with the majority of the compound excreted unchanged. These results support the evaluation of the safety, pharmacokinetics, and efficacy of repeat dosing in future studies.

Quelle:
Clinical Pharmacology in Drug Development Published by Wiley Periodicals, Inc. on behalf of The American College of Clinical Pharmacology