AR123725A1 - COMPOSITIONS AND METHODS FOR THE TREATMENT OF FABRY DISEASE - Google Patents
COMPOSITIONS AND METHODS FOR THE TREATMENT OF FABRY DISEASEInfo
- Publication number
- AR123725A1 AR123725A1 ARP210102796A ARP210102796A AR123725A1 AR 123725 A1 AR123725 A1 AR 123725A1 AR P210102796 A ARP210102796 A AR P210102796A AR P210102796 A ARP210102796 A AR P210102796A AR 123725 A1 AR123725 A1 AR 123725A1
- Authority
- AR
- Argentina
- Prior art keywords
- hgla
- seq
- expression
- raav
- coding sequence
- Prior art date
Links
- 239000000203 mixture Substances 0.000 title abstract 3
- 208000024720 Fabry Disease Diseases 0.000 title abstract 2
- 101000718525 Homo sapiens Alpha-galactosidase A Proteins 0.000 abstract 11
- 102000043404 human GLA Human genes 0.000 abstract 11
- 239000013598 vector Substances 0.000 abstract 5
- 108091026890 Coding region Proteins 0.000 abstract 4
- 230000001105 regulatory effect Effects 0.000 abstract 3
- 241000702421 Dependoparvovirus Species 0.000 abstract 2
- 125000000539 amino acid group Chemical group 0.000 abstract 2
- 125000000151 cysteine group Chemical group N[C@@H](CS)C(=O)* 0.000 abstract 2
- 239000002773 nucleotide Substances 0.000 abstract 2
- 125000003729 nucleotide group Chemical group 0.000 abstract 2
- 108091028043 Nucleic acid sequence Proteins 0.000 abstract 1
- 210000000234 capsid Anatomy 0.000 abstract 1
- 150000007523 nucleic acids Chemical group 0.000 abstract 1
- 239000008194 pharmaceutical composition Substances 0.000 abstract 1
- 239000000546 pharmaceutical excipient Substances 0.000 abstract 1
- 239000013612 plasmid Substances 0.000 abstract 1
- 108091033319 polynucleotide Proteins 0.000 abstract 1
- 102000040430 polynucleotide Human genes 0.000 abstract 1
- 239000002157 polynucleotide Substances 0.000 abstract 1
Landscapes
- Micro-Organisms Or Cultivation Processes Thereof (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Medicines Containing Material From Animals Or Micro-Organisms (AREA)
Abstract
Se proporcionan en el presente documento secuencias de polinucleótidos que codifican la a-galactosidasa A humana funcional (hGLA) y casetes de expresión que contienen estas secuencias codificantes. También se proporcionan vectores, tales como vectores de virus adenoasociados recombinantes (rAAV) que tienen genomas vectoriales que incluyen una secuencia codificante de hGLA unida operativamente a una o más secuencias reguladoras. Además, se proporcionan composiciones que contienen estos casetes de expresión y rAAV, así como métodos para el uso de estas composiciones para el tratamiento de la enfermedad de Fabry. Reivindicación 1: Un AAV recombinante (rAAV) que comprende una cápside AAVhu68 que lleva empaquetada un genoma vectorial, caracterizado porque el genoma vectorial comprende una secuencia de codificación para una a-galactosidasa A humana (hGLA) funcional y secuencias reguladoras que dirigen la expresión de la hGLA en una célula objetivo, donde la secuencia de codificación comprende los nucleótidos 94 a 1287 de la SEQ ID nº 4 o una secuencia al menos 85% idéntica a esta, y donde la hGLA tiene un residuo cisteínico en la posición 233 y/o en la posición 359 según la numeración de residuos de aminoácidos de la SEQ ID nº 2. Reivindicación 12: Un casete de expresión que comprende una secuencia de codificación de ácido nucleico que codifica una a-galactosidasa A humana (hGLA) funcional y una o más secuencias reguladoras que dirigen la expresión de la hGLA en una célula objetivo que contiene el casete de expresión, caracterizado porque la secuencia de ácidos nucleicos comprende los nucleótidos 94 a 1287 de la SEQ ID nº 4 o una secuencia al menos 85% idéntica a esta, y donde la hGLA tiene un residuo cisteínico en la posición 233 y/o en la posición 359 según la numeración de residuos de aminoácidos de la SEQ ID nº 2 o la SEQ ID nº 7. Reivindicación 26: Una célula hospedadora que comprende el casete de expresión según una cualquiera de las reivindicaciones 12 a 24 o el plásmido según la reivindicación 25. Reivindicación 27: Una composición farmacéutica que comprende el rAAV según una cualquiera de las reivindicaciones 1 a 11 o el casete de expresión según una cualquiera de las reivindicaciones 12 a 24, y un excipiente farmacéuticamente aceptable.Provided herein are polynucleotide sequences encoding functional human α-galactosidase A (hGLA) and expression cassettes containing these coding sequences. Vectors are also provided, such as recombinant adeno-associated virus (rAAV) vectors having vector genomes that include an hGLA coding sequence operatively linked to one or more regulatory sequences. In addition, compositions containing these expression cassettes and rAAV are provided, as well as methods of using these compositions for the treatment of Fabry disease. Claim 1: A recombinant AAV (rAAV) comprising an AAVhu68 capsid packaged with a vector genome, characterized in that the vector genome comprises a coding sequence for a functional human α-galactosidase A (hGLA) and regulatory sequences directing the expression of hGLA in a target cell, where the coding sequence comprises nucleotides 94 to 1287 of SEQ ID NO: 4 or a sequence at least 85% identical thereto, and where the hGLA has a cysteine residue at position 233 and/or at position 359 according to the amino acid residue numbering of SEQ ID No. 2. Claim 12: An expression cassette comprising a nucleic acid coding sequence encoding a functional human α-galactosidase A (hGLA) and one or more regulatory sequences directing the expression of hGLA in a target cell containing the expression cassette, characterized in that the nucleic acid sequence comprises the nucleotides 94 to 1287 of SEQ ID No. 4 or a sequence at least 85% identical thereto, and where hGLA has a cysteine residue at position 233 and/or position 359 according to the amino acid residue numbering of SEQ ID No. 2 or SEQ ID No. 7. Claim 26: A host cell comprising the expression cassette according to any one of claims 12 to 24 or the plasmid according to claim 25. Claim 27: A pharmaceutical composition comprising the rAAV according to a any one of claims 1 to 11 or the expression cassette according to any one of claims 12 to 24, and a pharmaceutically acceptable excipient.
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US202063089850P | 2020-10-09 | 2020-10-09 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| AR123725A1 true AR123725A1 (en) | 2023-01-04 |
Family
ID=85131234
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ARP210102796A AR123725A1 (en) | 2020-10-09 | 2021-10-07 | COMPOSITIONS AND METHODS FOR THE TREATMENT OF FABRY DISEASE |
Country Status (1)
| Country | Link |
|---|---|
| AR (1) | AR123725A1 (en) |
-
2021
- 2021-10-07 AR ARP210102796A patent/AR123725A1/en not_active Application Discontinuation
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| FA | Abandonment or withdrawal |