Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia

David R. Lynch, Katherine D. Mathews, Susan Perlman, Theresa Zesiewicz, Sub Subramony, Omid Omidvar, Adam P. Vogel, Ana Krtolica, Nadia Litterman, Lex van der Ploeg, Frederic Heerinckx, Peter Milner & Mark Midei; J Neurol (2022). doi:10.1007/s00415-022-11501-4 

The results of this study provide no evidence for a significant benefit of RT001 at the dosages tested in this Friedreich ataxia patient population.

Ataxia Rating Scales: Content Analysis by Linking to the International Classification of Functioning, Disability and Health

Etoom, M.; Jahan, A.M.; Alghwiri, A.; Lena, F.; Modugno, N.; Healthcare 2022, 10, 2459. doi:10.3390/healthcare10122459

The content analysis of ataxia rating scales would help clinicians and researchers select the most appropriate scale and understand ataxic symptoms and their impact on function. It seems that SARA is the optimal scale for rapid assessment of ataxia or in busy clinical settings. UMSARS or FARS are more appropriate for the investigating the impact of ataxia on overall health, and monitoring ataxia progression and disability.

Clinical Drug-Drug Interaction Between Vatiquinone, a 15-Lipoxygenase Inhibitor, and Rosuvastatin, a Breast Cancer Resistance Protein Substrate

Lee, L., Murase, K., Ma, J. and Thoolen, M. (2022); Clin Pharmacol Drug Dev. doi:10.1002/cpdd.1199

These results demonstrate that vatiquinone has no clinically relevant effect on the pharmacokinetics of rosuvastatin.

Ataxia Rating Scales Reflect Patient Experience: an Examination of the Relationship Between Clinician Assessments of Cerebellar Ataxia and Patient-Reported Outcomes

Michele H. Potashman, Miranda L. Mize, Melissa W. Beiner, Samantha Pierce, Vladimir Coric & Jeremy D. Schmahmann; Cerebellum (2022). doi:10.1007/s12311-022-01494-1 

Ataxia rating scales are observer administered clinical outcome assessments (COAs) of the cerebellar motor syndrome. It is not known whether these COAs mirror patient experience of their disease. Here we test the hypothesis that ataxia COAs are related to and reflect patient reported symptoms and impact of illness.

CIRM grant $4.8m to fund gene therapy for rare disease

6 December 2022. CIRM grant will fund novel gene therapy that aims for single lifelong treatment of Friedreich’s ataxia, a progressive neuromuscular disorder; a second CIRM grant will advance efforts to leverage UC San Diego research on another rare disease. 

I n 2020, Cherqui and her team, in a new study, found that specifically described how CRISPR-Cas9 gene editing of hematopoietic stem cells from patients with FA could work. Hematopoietic stem cells are capable of developing into all types of blood cells. CRISPR-Cas9 is a technology that allows scientists to edit parts of the genome by removing, adding or altering sections of the DNA sequence. 

 In November 2022, the California Institute for Regenerative Medicine (CIRM) awarded Cherqui and the team a grant of $4.8 million, to move this approach closer to clinical trials. The funding will be used to develop a therapy based on gene-edited hematopoietic stem and progenitor cells derived from FA patients, which would be re-infused as a one-time, lifelong treatment.

Form S-1/A JUPITER NEUROSCIENCES,

December 7, 2022; UNITED STATES SECURITIES AND EXCHANGE COMMISSION. REGISTRATION STATEMENT UNDER THE SECURITIES ACT OF 1933. 

JOTROL™ was developed together with our technology partner Aquanova AG, Darmstadt, Germany. JOTROL™ is formulated with a unique patented micellar technology that is projected to increase the bioavailability profile of resveratrol. Manufacturing technology transfers were completed in 2017 and manufacturing procedures and clinical trial supply manufacturing has been completed at Catalent Pharmaceutical Services, Inc., St Petersburg, Florida. JOTROL™ is a micellar non-aqueous solution of resveratrol delivered in a softgel capsule. Each capsule includes 100mg of resveratrol. Pre-clinical trials in mice and rats were conducted comparing JOTROL™ to micronized resveratrol, labeled to have the highest bioavailability in the nutritional market, to demonstrate that we could achieve a significantly higher bioavailability. Summary details of these studies are included in the section “Description of Business”. A Phase I dose finding pharmacokinetic (“PK”) study in healthy volunteers was completed during the first half of 2021. The study results met our targeted goals. The results from this study will be used as a cross-reference for all indications where JOTROL™ will be used in Phase II and Phase III clinical trials. The Phase I results and the FDA guidance of cross-referencing is further described in the section “Description of Business”. The Company has not discussed the use of cross-referencing in this manner with the FDA or other comparable regulatory authorities.

Design Therapeutics Reports Positive Data from Single-Ascending Dose Trial of DT-216 for the Treatment of Friedreich Ataxia and Portfolio Progress

CARLSBAD, Calif., Dec. 07, 2022 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc. (Nasdaq: DSGN), a clinical-stage biotechnology company developing treatments for serious degenerative genetic diseases, today reported progress across its portfolio of novel GeneTAC™ small molecules. Today’s updates include initial results on DT-216 from the company’s single-ascending dose (SAD) Phase 1 clinical trial in patients with Friedreich ataxia (FA). The results show that DT-216 was generally well-tolerated and able to overcome the frataxin (FXN) transcription impairment that causes FA, with a greater than two-fold increase in FXN mRNA in the cohort with the highest response. These data support the continued advancement of DT-216 in the ongoing multiple-ascending dose (MAD) Phase 1 trial and the anticipated Phase 2 clinical trial in FA patients, which is on track to begin in 2023.

FDA: B-NMN Can No Longer Be Sold as a Dietary Supplement in the US

December 06, 2022. Recently, the US Food and Drug Administration (FDA) said that beta-nicotinamide mononucleotide (Β-NMN) — a popular longevity supplement ingredient — is under investigation as a potential new drug. Therefore, companies can no longer market it as a dietary supplement. This decision has sparked concern among those who use NMN and the dietary supplement industry.

Ataxia Rating Scales: Content Analysis by Linking to the International Classification of Functioning, Disability and Health

Etoom, M.; Jahan, A.M.; Alghwiri, A.; Lena, F.; Modugno, N. . Healthcare 2022, 10, 2459. doi:10.3390/healthcare10122459 

 The content analysis of ataxia rating scales would help clinicians and researchers select the most appropriate scale and understand ataxic symptoms and their impact on function. It seems that SARA is the optimal scale for rapid assessment of ataxia or in busy clinical settings. UMSARS or FARS are more appropriate for the investigating the impact of ataxia on overall health, and monitoring ataxia progression and disability.

Solid Biosciences Announces Closing of Acquisition of AavantiBio and Concurrent $75 Million Private Placement

CHARLESTOWN, Mass., Dec. 05, 2022 (GLOBE NEWSWIRE) -- Solid Biosciences Inc. (Nasdaq: SLDB), a life sciences company focused on advancing meaningful therapies for Duchenne muscular dystrophy (Duchenne), today announced the closing of its acquisition of AavantiBio, a privately held gene therapy company focused on transforming the lives of patients with Friedreich’s ataxia and rare cardiomyopathies, including its pipeline assets and net cash. The combined company will focus on advancing a portfolio of neuromuscular and cardiac programs, including SGT-003, a differentiated gene transfer candidate, for the treatment of Duchenne, AVB-202, a gene transfer candidate for the treatment of Friedreich’s ataxia, AVB-401 for BAG3 mediated dilated cardiomyopathy, and additional assets for the treatment of undisclosed cardiac diseases.