Cerebellar ataxia

Expanded STR Detection Capability Enables Variantyx to Diagnose Additional Genetic Disorders

Retrieved on: 
Thursday, November 30, 2023

Variantyx, a leader in genomic precision medicine, today announced that the set of short tandem repeat (STR) expansions detected by its Genomic Unity® line of whole genome-based tests has been expanded.

Key Points: 
  • Variantyx, a leader in genomic precision medicine, today announced that the set of short tandem repeat (STR) expansions detected by its Genomic Unity® line of whole genome-based tests has been expanded.
  • “Short tandem repeat gene analysis and interpretation has always been challenging in clinical diagnostics,” said Christine Stanley, PhD, FACMG, Chief Director of Clinical Genomics at Variantyx.
  • “Because the entire genome is sequenced, Genomic Unity® testing has the ability to detect a broader range of STRs from a single sample compared to targeted technologies utilized by other laboratories.
  • The additional detection capabilities are automatically included in all Genomic Unity® comprehensive analyses and relevant targeted analyses.

Charles River and Genetic Cures for Kids Announce Gene Therapy Manufacturing Collaboration

Retrieved on: 
Tuesday, November 28, 2023

Charles River Laboratories International, Inc. (NYSE: CRL) and Genetic Cures for Kids Inc (GC4K), an Australian non-profit foundation focused on research programs and clinical trials to find cures for rare diseases, today announced a plasmid DNA contract development and manufacturing organization (CDMO) collaboration.

Key Points: 
  • Charles River Laboratories International, Inc. (NYSE: CRL) and Genetic Cures for Kids Inc (GC4K), an Australian non-profit foundation focused on research programs and clinical trials to find cures for rare diseases, today announced a plasmid DNA contract development and manufacturing organization (CDMO) collaboration.
  • In recent years, Charles River has significantly broadened its cell and gene therapy portfolio to simplify complex supply chains and meet growing demand for plasmid DNA, viral vector, and cell therapy services.
  • Combined with the Company’s legacy testing capabilities, Charles River offers a comprehensive “concept-to-cure” advanced therapies solution.
  • - Golden Whitrod, Tallulah Moon’s mother and Co-Founder and President, Genetic Cures for Kids, Inc.

Newly Published Phase II Clinical Study Demonstrates that Supplementation with Niagen®, Patented Nicotinamide Riboside (NR), Elevates NAD+ Up to Fourfold, Improving Motor Coordination and Eye Movement in Ataxia Telangiectasia (AT) Patients

Retrieved on: 
Wednesday, November 15, 2023

The promising results demonstrate that long-term supplementation with Niagen NR effectively increased whole blood NAD+ levels up to fourfold, improved coordination, and enhanced eye movement while maintaining biomarkers of stable liver and kidney function in Ataxia Telangiectasia (AT) patients.

Key Points: 
  • The promising results demonstrate that long-term supplementation with Niagen NR effectively increased whole blood NAD+ levels up to fourfold, improved coordination, and enhanced eye movement while maintaining biomarkers of stable liver and kidney function in Ataxia Telangiectasia (AT) patients.
  • AT is a rare, inherited neurodegenerative disorder characterized by premature aging, cerebellar degeneration, immunodeficiency, and cancer predisposition.
  • View the full release here: https://www.businesswire.com/news/home/20231115900463/en/
    Newly published phase II clinical study demonstrates that supplementation with Niagen, patented nicotinamide riboside (NR), elevates NAD+ up to fourfold, improving motor coordination and eye movement in Ataxia Telangiectasia (AT) patients (Graphic: Business Wire)
    Building on a growing body of research, this is the second published study ( Veenhuis et al.
  • This growing body of research is promising as it demonstrates that NR supplementation may be a potential therapeutic strategy for AT patients.”

Design Therapeutics Highlights Pipeline Progress and Reports Fourth Quarter and Full Year 2022 Financial Results

Retrieved on: 
Tuesday, March 14, 2023

CARLSBAD, Calif., March 14, 2023 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc. (Nasdaq: DSGN), a clinical-stage biotechnology company developing treatments for serious degenerative genetic diseases, today highlighted recent progress and anticipated upcoming milestones across its clinical and research-stage pipeline of novel GeneTAC™ small molecules and reported fourth quarter and full year 2022 financial results.

Key Points: 
  • Design is advancing a Phase 1 MAD trial, with initial results expected in mid-2023, and final data expected by year-end.
  • R&D Expenses: Research and development (R&D) expenses were $14.3 million for the quarter ended December 31, 2022, and $48.6 million for the year ended December 31, 2022.
  • G&A Expenses: General and administrative (G&A) expenses were $5.1 million for the quarter ended December 31, 2022, and $19.0 million for the year ended December 31, 2022.
  • Net Loss: Net loss was $17.3 million for the quarter ended December 31, 2022, and $63.3 million for the year ended December 31, 2022.

Zevra Therapeutics Announces Arimoclomol Research Featured in Two Poster Presentations at the 19th Annual WORLDSymposium™ 2023

Retrieved on: 
Friday, February 24, 2023

CELEBRATION, Fla., Feb. 24, 2023 (GLOBE NEWSWIRE) -- Zevra Therapeutics, Inc. (NasdaqGS: KMPH) (“Zevra” or the “Company,” formerly known as KemPharm, Inc.), today announced that arimoclomol, the Company’s orally-delivered, first-in-class investigational product candidate being developed as a treatment for Niemann-Pick disease type C (NPC), is being featured in two poster presentations during the 19th Annual WORLDSymposium™ 2023, the annual research conference dedicated to lysosomal diseases being held February 22-26, 2023 in Orlando, Florida, USA.

Key Points: 
  • Research presented at WORLDSymposium™ 2023 included an interim analysis from the ongoing four-year open-label extension of the Phase 2/3 clinical trial of arimoclomol.
  • Results from this analysis, based on up to four years of continuous treatment, suggest that arimoclomol may reduce the long-term progression of NPC.
  • “We are pleased to share this important research of arimoclomol at WORLDSymposium™ 2023, which expands our understanding of the potential for arimoclomol to decrease the long-term progression of NPC,” said Travis C. Mickle, Ph.D., President of Zevra.
  • As presented at WORLDSymposium™ 2023, results from the data analysis indicated that long-term progression of NPC may be reduced in patients treated with arimoclomol.

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

Retrieved on: 
Wednesday, December 7, 2022

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.

Key Points: 
  • 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 primary and secondary study objectives were to evaluate safety and tolerability, and pharmacokinetics (PK) of DT-216 in FA patients.
  • Patients in Cohorts 1-4 were dosed with a single bolus dose of DT-216 at increasing levels from 25 mg to 200 mg.
  • Design plans to dose at least three cohorts and report data from the MAD trial in mid-2023.

Bionano Genomics Reports Third Quarter 2022 Financial Results and Highlights Recent Business Progress

Retrieved on: 
Thursday, November 3, 2022

SAN DIEGO, Nov. 03, 2022 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO), today reported financial results for the third quarter ended September 30, 2022.

Key Points: 
  • milestones
    Strong balance sheet with $180.2 million in cash, cash equivalents, and available-for-sale securities at the end of Q3 2022
    SAN DIEGO, Nov. 03, 2022 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO), today reported financial results for the third quarter ended September30, 2022.
  • We believe our Q3 2022 results, which include the highest quarterly revenues ever for Bionano, reflect continued gains in market development and commercial validation for OGM.
  • Total revenue for Q3 2022 was $7.2 million, up 55% from Q3 2021, and an 8% increase from Q2 2022.
  • Chris Stewart, chief financial officer of Bionano added, Q3 2022 was another outstanding quarter for Bionano.

Vico Therapeutics Appoints Scott Schobel, MD as Chief Medical Officer

Retrieved on: 
Monday, October 3, 2022

LEIDEN, Netherlands, Oct. 3, 2022 /PRNewswire/ -- Vico Therapeutics B.V., a neurology-focused genetic medicine company, today announced the appointment of Scott Schobel, MD as chief medical officer. Dr. Schobel brings significant drug development experience to Vico, including 10 years in various roles at Roche where he led the development of small molecules, monoclonal antibodies, and antisense oligonucleotides (ASOs). While at Roche, he served as the clinical science leader of the tominersen program for Huntington's disease (HD). In his new role at Vico, Dr. Schobel will lead clinical development efforts including advancement of VO659 for the potential treatment of HD and spinocerebellar ataxias (SCAs) into the clinic and expansion of the company's VICOMER oligonucleotide-based RNA modulation platform.

Key Points: 
  • LEIDEN, Netherlands, Oct. 3, 2022 /PRNewswire/ -- Vico Therapeutics B.V., a neurology-focused genetic medicine company, today announced the appointment of Scott Schobel, MD as chief medical officer.
  • "I am pleased to announce Scott's addition to the Vico team," said Luc Dochez, chairman of Vico.
  • "He is a great complement to our CEO, Micah Mackison, who joined in August 2022 and Dr. Nicole Datson, our chief development officer.
  • "I am delighted to welcome Scott to our Vico family," said Micah Mackison, chief executive officer.

PacBio Unveils a New Method for Comprehensive, Genome-wide Tandem Repeat Analysis

Retrieved on: 
Tuesday, September 27, 2022

MENLO PARK, Calif., Sept. 27, 2022 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the availability of a new computational analysis method for profiling more than a million tandem repeats (TRs) across the human genome using PacBio's native long-read HiFi sequencing data. The Tandem Repeat Genotyping Tool (TRGT: pronounced as "target") is intended to provide scientists with the ability to obtain a full characterization of the sequence and methylation status of TRs genome-wide. We believe TRGT will enable scientists to better understand the role of known TRs in human disease and could lead to the discovery of novel disease-causing TRs.

Key Points: 
  • The Tandem Repeat Genotyping Tool (TRGT: pronounced as "target") is intended to provide scientists with the ability to obtain a full characterization of the sequence and methylation status of TRs genome-wide.
  • Tandem repeats are genetic sequences that are repeated in series, and they can grow in length from parent to child.
  • "We developed TRGT to characterize the genetic and epigenetic variation in one of the most difficult variant classes, tandem repeats" said Michael Eberle, Vice President of Computational Biology at PacBio.
  • "So far, tandem repeats have been understudied due to limitations in the ability of short-read sequencing technologies to sequence these regions of the genome.

Bionano Genomics Announces First Publication Using OGM for Detection of Repeat Expansions in CANVAS and Adult-Onset Ataxia

Retrieved on: 
Thursday, August 11, 2022

Repeat expansion disorders are a class of disorders that impact approximately 1 in 3,000 people and are caused by expansions of short tandem DNA repeats.

Key Points: 
  • Repeat expansion disorders are a class of disorders that impact approximately 1 in 3,000 people and are caused by expansions of short tandem DNA repeats.
  • Individuals with RFC1 (AAGGG)n repeat expansion disorder may present with a spectrum of features including cerebellar ataxia, neuropathy, and vestibular areflexia.
  • In the study, researchers screened 626 samples for the presence of (AAGGG)n repeat expansions in the RFC1 gene using a combination of PCR to detect repeat sequences, and OGM, to determine the size of the repeat expansions.
  • We plan to continue developing better tools for the detection of a range of repeat expansion disorders, including those causing adult-onset ataxia and CANVAS.