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January-March 2015 | Vol. 8 | Issue 1 | Page No 13-14
Innovative orphan drugs: a revolutionary evolution in the treatment of genetic diseases
Moni Tuteja
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow
Address for Correspondence Email: monibhatia@gmail.com
X linked hypohydrotic ectodermal dysplasia is a relatively common genetic disorder characterised by the triad of hypotrichosis, hypohidrosis and hypodontia. EDA, the gene responsible for X-linked HED, produces ectodysplasin-A, a protein that is important for normal development of ectodermal appendages including hair, teeth, and sweat glands. Defects in the molecular structure of ectodysplasin-A may inhibit the action of enzymes necessary for normal development of the ectoderm and/or its interaction with the underlying mesoderm. Several isoforms of ectodysplasin are expressed in keratinocytes, hair follicles, and sweat glands. Gaide and Schneider compared the effect of antenatal versus postnatal EDA-A1 replacement, using EDI200, a recombinant EDAA1 replacement molecule, in the Tabby mouse model of XLHED. They found that the response to EDA-A1 replacement is significantly enhanced by antenatal maternal administration starting from embryonic Day 11. Another study by Mauldin et al. showed that neonatal treatment with recombinant EDA improved respiratory status in dogs with XLHED. It was shown that this treatment leads to partial to complete restoration of tracheal and bronchial glands. It was also found that prenatal EDA administration in treated dogs sustained the benefits on growth, infections, dentition, pulmonary function, and ocular inflammation. In mouse and dog XLHED models, administration of a single course of an EDA-A1 replacement protein (EDI200) resulted in permanent correction of the key phenotypic features, providing the first hope for an effective, targeted therapy.
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