News

• UK’s NICE has approved Libmeldy gene therapy (2022-02)
  
  • pre-symptomatic late infantile and juvenile MLD
    
  • pre-symptomatic and early symptomatic early juvenile
•  6 , now 7 as of WORLDSymposium, bio-pharma companies are currently working on MLD
  
  •  5  6 gene therapy variations
• FDA PFDD – Patient Focused Drug Development meeting
  • being planned
    
• Gene therapy – US availability
  • Now available in the US via  Compassionate Access (Pre-Approval Access) in Minneapolis. Case by case review for access
  • Orchard Therapeutics’  IND is open at the FDA
• Libmeldy gene therapy approved by the EC/EMA – Europe  (2021-12)
  • • France and Germany have access
    • Each member nation needs to individually approve therapeutic access

2022 – Current Projects 

• Genotype -Phenotyoe correlation & Polygenic Risk Scoring Project
  • Over 300 ARSA mutations have been biochemically synthesized and compared published MLD case phenotypes to create a proposed Polygenic matrix
  • MLD Foundation will be validating the matrix using their registry of unpublished geno-pheno data
  • Website for general public, clinician, and researcher use will go live once the paper is published this spring.
  • Target is better phenotype identification leading to improved clinical care, therapeutic decision-making, and patient quality of life.
  • Polygenic matrix will be key asset for therapy targeting  with newborn screening
•  6  7 bio-pharma companies are currently working on MLD
  •  5  6 are variations of gene therapies
  • We are partnered to help define and participate in several natural history studies and  clinical trials which we hope will launch over the next year or so
• Newborn Screening
  • Over 100k deidentified babies screened to validate the assay – excellent  assay results
  • ScreenPlus pilot launched spring 2021 in parts of New York
  • Pilot continues in parts of Germany
  • ACHDNC RUSP Nomination development continues – MLD Foundation is facilitating an MLD Expert Advisory Group and will also lead state-by-state implementation and policy efforts 
• Registries
  • AllStripes EHR and paper health record research project collaboration (2022-02)
  • MLD Family Profile™ (since 1999)
  • MLD Patient Powered Registry™ (since 2015, PEER/LunaDNA platform re-launching spring 2022)
  • MLD Patient Powered Registry and AllStripes data available for qualified research projects
• Access & Reimbursement
  •  Gene therapy requires years of advanced effort to assure access and reimbursement across dozens of countries, heath systems, and both public and private insurers
• Policy
  • Please contact us if you’d like to learn more about any of the policy issues and/or to become more actively engaged
  • Access & Reimbursement … gene therapy is expensive
  • ARPA-H
  • CURES 2.0
  • Telehealth
  • Copay Accumulators
  • PDUFA-VII & other FDA legislation
  • Appropriations
  • Cross-State Medicaid coverage for specialty care & therapy
  • and more …