Treatment of ectodermal dysplasia with EDA1 fusion proteins
Disclosed is a recombinant fusion protein containing an amino-acid sequence which comprises: (a) the Fc section or part of an Fc section of an immunoglobulin as component (A) or a functional variant of component (A); (b) the extracellular part of a TNF ligand or a partial sequence of the extracellular part of a TNF ligand as component (B) or a functional variant of component (B); and optionally (c) a transition area between component (A) and component (B), containing a linker.
1. A method for treating a symptom of X-coupled hypohydrotic ectodermal dysplasia in a patient diagnosed with or suspected of having X-coupled hypohydrotic ectodermal dysplasia comprising administering to the patient a pharmaceutical composition comprising a recombinant fusion protein, which comprises (a) an Fc segment of an immunoglobulin consisting of amino acids 18 to 243 of SEQ ID NO: 6, and (b) an extracellular moiety of Ectodysplasin-A (EDA1) comprising amino acids 266 to 412 of SEQ ID NO: 6, wherein the symptom of X-coupled hypohydrotic ectodermal dysplasia is selected from the group consisting of: missing teeth, abnormal development of teeth, dysfunction or lack of sweat glands, lack of Moebius glands, lack of sebaceous glands, and alopecia.
2. The method of claim 1 , wherein the patient is a human or a non-human animal.
3. The method of claim 2 , wherein the patient is human.
4. The method of claim 1 , wherein the pharmaceutical composition is administered to the patient in utero by administration to the patient's mother.
5. The method of claim 4 , wherein the pharmaceutical composition is administered to the mother parenterally by a method selected from the group consisting of in utero injection, intravenous injection, or intra-arterial injection.
6. The method of claim 1 , wherein the pharmaceutical composition is administered at a time period selected from the group consisting of: within the first 3 days of life, within the first 2 months of life, and within the first 6 months of life.
7. The method of claim 1 , wherein the patient is a neonate, infant, or adult.
8. The method of claim 1 , wherein the pharmaceutical composition is administered by a method selected from the group consisting of: oral administration, topical administration, parenteral administration, intraperitoneal administration, and subcutaneous administration.
9. A method for promoting hair follicle growth formation in a patient with a defect in an EDA1 gene comprising administering to the patient a pharmaceutical composition comprising a recombinant fusion protein, which comprises (a) an Fc segment of an immunoglobulin consisting of amino acids 18 to 243 of SEQ ID NO: 6, and (b) an extracellular moiety of EDA1 comprising amino acids 266 to 412 of SEQ ID NO: 6, thereby increasing the number of hair follicles in the patient.
10. The method of claim 9 , wherein the patient has a skin wound and hair follicle growth is promoted on the area of skin affected by the wound.
11. The method of claim 9 , wherein the patient is a human or a non-human animal.
12. The method of claim 11 , wherein the patient is human.
13. The method of claim 9 , wherein the patient is a neonate, infant, or adult.
14. The method of claim 9 , wherein the patient has acquired alopecia or has congenital alopecia.
15. The method of claim 9 , wherein the pharmaceutical composition is administered by a method selected from the group consisting of: oral administration, topical administration, parenteral administration, intraperitoneal administration, and subcutaneous administration.
16. A method for treating a deficiency of functional sweat glands or sebaceous glands in a patient with a defect in an EDA1 gene comprising administering to the patient a pharmaceutical composition comprising a recombinant fusion protein, which comprises (a) an Fc segment of an immunoglobulin consisting of amino acids 18 to 243 of SEQ ID NO: 6, and (b) an extracellular moiety of EDA1 comprising amino acids 266 to 412 of SEQ ID NO: 6, thereby increasing the number of functional sweat glands or sebaceous glands in the patient.
17. The method of claim 16 , wherein the patient has a skin wound and hair follicle growth is promoted on the area of skin affected by the wound.
18. The method of claim 16 , wherein the patient is a human or a non-human animal.
19. The method of claim 18 , wherein the patient is human.
20. The method of claim 16 , wherein the patient is a neonate, infant, or adult.
21. The method of claim 16 , wherein the pharmaceutical composition is administered by a method selected from the group consisting of: oral administration, topical administration, parenteral administration, intraperitoneal administration, and subcutaneous administration.