Prime Medicine Reports Full Year 2023 Financial Results and Provides Business Updat

CAMBRIDGE, Mass., March 01, 2024 (GLOBE NEWSWIRE) -- Prime Medicine, Inc. (Nasdaq: PRME), a biotechnology company committed to delivering a new class of differentiated one-time curative genetic therapies, today reported financial results for the full year ended December 31, 2023 and provided a business update. 

-Continue to advance Friedreich’s Ataxia and advance one other program into lead optimization in 2024. --In large animal studies, establish adeno-associated virus (AAV) delivery platform and route of administration for neuromuscular programs in 2024.

After pair of failures, PTC finds a path through FDA jungle for Friedreich ataxia med

https://www.fiercebiotech.com. By Annalee Armstrong; Mar 1, 2024. In a fourth-quarter earnings update Thursday afternoon, PTC executives briefed investors on the results of a type C meeting with the FDA where they pled their case for using a subscale called upright stability to show efficacy using data already collected in the phase 3 MOVE-FA trial. 

PTC’s candidate for the disorder failed to move the needle on the modified Friedreich Ataxia Rating Scale (mFARS), which measures disease progression. The therapy had little impact on the lower and upper limbs, which led to the failure. Despite the primary endpoint miss, PTC saw a glimmer of efficacy in the data, pointing to the upright stability subscales. 

PTC is expecting to file the NDA for vatiquinone in late 2024. Klein said an open-label trial is currently ongoing, which will be used to support the package and could also provide confirmatory evidence if the FDA agrees to the accelerated review. For that type of approval, companies can get an advanced go-ahead to market a drug based on biomarker data but must later provide confirmatory evidence to show benefit.

PTC Therapeutics Provides Corporate Update and Reports Fourth Quarter and Full Year 2023 Financial Results

SOUTH PLAINFIELD, N.J., Feb. 29, 2024 /PRNewswire/ -- PTC Therapeutics, Inc. PTC had a Type C meeting with the FDA in the first quarter of 2024 to discuss the vatiquinone Friedreich ataxia program. Based on discussions with the FDA, PTC has a potential path to an NDA submission in late 2024 based on the placebo-controlled results of MOVE-FA, along with data from the ongoing open-label extension study.

Voyager Therapeutics Announces Selection of Gene Therapy Development Candidate for Friedreich’s Ataxia in Collaboration with Neurocrine Biosciences

Voyager Therapeutics Announces Selection of Gene Therapy Development Candidate for Friedreich’s Ataxia in Collaboration with Neurocrine Biosciences, Triggering Milestone Payment. Voyager Therapeutics Inc. 

 LEXINGTON, Mass., Feb. 26, 2024 (GLOBE NEWSWIRE) -- Voyager Therapeutics, Inc. (Nasdaq: VYGR), a biotechnology company dedicated to advancing neurogenetic medicines, today announced that the joint steering committee with its collaborator Neurocrine Biosciences has selected a lead development candidate in the Friedreich’s ataxia (FA) program. The candidate combines a frataxin (FXN) gene replacement payload with an intravenously administered, blood-brain barrier penetrant, novel capsid derived from Voyager’s TRACER™ capsid discovery platform. The companies expect the program to advance into first-in-human clinical trials in 2025.

Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort

Shen MM, Rummey C, Lynch DR. Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort. Ann Clin Transl Neurol. 2024 Feb 23. doi: 10.1002/acn3.52027. Epub ahead of print. PMID: 38396238. 

These data support that the typical FRDA phenotype is driven by frataxin deficiency, especially severe in compound heterozygotes with minimal/no function mutations, whereas the heterogeneous presentations of those with partial function mutations may indicate other contributing factors to FRDA pathogenesis.

Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene

Ahmad I, Kapoor H, Srivastava AK, Faruq M. Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene. Stem Cell Res. 2024 Feb 10;76:103340. doi: 10.1016/j.scr.2024.103340. Epub ahead of print. PMID: 38367363. 

Both iPSC lines demonstrated characteristics of pluripotency, including expression of pluripotency markers, stable karyotypes and ability to develop into all three germ layers, and presence of GAA repeat expansion with reduced FXN mRNA expression. These iPSC lines will serve as invaluable tools for investigating the pathophysiology and phenotypes of FRDA.

Union Register of medicinal products for human use: (2024)975 of 09 Feb 2024 Skyclarys

 https://ec.europa.eu/health/documents/community-register/2024/20240209161576/dec_161576_es.pdf

https://ec.europa.eu/health/documents/community-register/2024/20240209161576/dec_161576_en.pdf

 https://ec.europa.eu/health/documents/community-register/2024/20240209161576/dec_161576_fr.pdf

FICHA TÉCNICA / SUMMARI OF PRODUCT / RÉSUMÉ

https://ec.europa.eu/health/documents/community-register/2024/20240209161576/anx_161576_es.pdf

https://ec.europa.eu/health/documents/community-register/2024/20240209161576/anx_161576_en.pdf

https://ec.europa.eu/health/documents/community-register/2024/20240209161576/anx_161576_fr.pdf

Larimar Therapeutics Reports Positive Top-line Data from Phase 2 Dose Exploration Study from 25 mg and 50 mg Cohorts of Nomlabofusp in Patients with Friedreich’s Ataxia

BALA CYNWYD, Pa., Feb. 12, 2024 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. (“Larimar”) (Nasdaq: LRMR), a clinical-stage biotechnology company focused on developing treatments for complex rare diseases, today announced positive top-line data and successful completion of its four-week, placebo-controlled Phase 2 dose exploration study of nomlabofusp (CTI-1601) in participants with Friedreich’s ataxia (FA). Nomlabofusp was generally well tolerated and demonstrated dose dependent increases in frataxin (FXN) levels in all evaluated tissues (skin and buccal cells) after daily dosing of 14 days followed by every other day dosing until day 28 in the 25 mg and 50 mg cohorts. Participants in the 25 mg (n=13) and 50 mg (n=15) cohorts were randomized 2:1 to receive subcutaneous injections of nomlabofusp or placebo.

Biogen Received European Commission Approval for SKYCLARYS® (omaveloxolone), the First Therapy to Treat Friedreich’s Ataxia

CAMBRIDGE, Mass., Feb. 12, 2024 (GLOBE NEWSWIRE) -- Biogen Inc. (Nasdaq: BIIB) announced the European Commission (EC) has authorized SKYCLARYS® (omaveloxolone) for the treatment of Friedreich’s ataxia (FA) in adults and adolescents aged 16 years and older.

Real-world evidence for coverage determination of treatments for rare diseases

Dayer, V.W., Drummond, M.F., Dabbous, O. et al. Real-world evidence for coverage determination of treatments for rare diseases. Orphanet J Rare Dis 19, 47 (2024). doi.10.1186/s13023-024-03041-z

Health technology assessment (HTA) decisions for pharmaceuticals are complex and evolving. New rare disease treatments are often approved more quickly through accelerated approval schemes, creating more uncertainties about clinical evidence and budget impact at the time of market entry. The use of real-world evidence (RWE), including early coverage with evidence development, has been suggested as a means to support HTA decisions for rare disease treatments. However, the collection and use of RWE poses substantial challenges. These challenges are compounded when considered in the context of treatments for rare diseases. In this paper, we describe the methodological challenges to developing and using prospective and retrospective RWE for HTA decisions, for rare diseases in particular. We focus attention on key elements of study design and analyses, including patient selection and recruitment, appropriate adjustment for confounding and other sources of bias, outcome selection, and data quality monitoring. We conclude by offering suggestions to help address some of the most vexing challenges. The role of RWE in coverage and pricing determination will grow. It is, therefore, necessary for researchers, manufacturers, HTA agencies, and payers to ensure that rigorous and appropriate scientific principles are followed when using RWE as part of decision-making.