Compositions and methods for diagnosing and treating peroxisomal diseases
AssigneesChildren's Medical Center Corporation, Ospedale San Raffaele S.R.L., Dana-Farber Cancer Institute, Inc., Fondazione Telethon
InventorsAlessandra Biffi, Eleonora Cavalca
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Abstract
The invention features compositions and methods for the treatment and prevention of peroxisomal diseases (e.g., neonatal adrenoleukodystrophy and Zellweger syndrome), including in a subject selected as having increased levels of metallothionein polypeptides. The invention also provides compositions and methods for identifying a subject having a peroxisomal disease involving detecting metallothionein polypeptides or polynucleotides.
Claims6
A method of treating a peroxisomal disease in a selected subject, the method comprising administering a peroxisomal disease treatment to the subject, wherein the subject is selected by detecting an increase in the level of a metallothionein (MT) polynucleotide or polypeptide in a sample of the subject relative to a reference, wherein the peroxisomal disease is adrenoleukodystrophy, neonatal adrenoleukodystrophy, adrenomyeloneuropathy, or Zellweger syndrome, wherein the peroxisomal disease treatment comprises administering an allogeneic hematopoietic stem cell transplant (HCT) comprising an ABCD1 polynucleotide to the subject.
A method of treating a peroxisomal disease in a selected subject, the method comprising administering a peroxisomal disease treatment to the subject, wherein the subject is selected by detecting an increase in the level of a metallothionein (MT) polynucleotide or polypeptide in a sample of the subject relative to a reference, wherein the peroxisomal disease is adrenoleukodystrophy, neonatal adrenoleukodystrophy, adrenomyeloneuropathy, or Zellweger syndrome, wherein the peroxisomal disease treatment comprises administering a lentiviral, or adenoassociated vector comprising an ABCD1 polynucleotide to the subject.
Dependencies are inferred from the claim text.