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Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia

“…The same experiment was repeated in EDA mutant dogs, and their severe oligodontia was almost completely prevented . These results have prompted scientists to start clinical trials in humans to rescue the HED phenotype and, interestingly, promising results were reported recently from one trial . EDA research is an excellent demonstration that the results of basic biology research may be applied in the future for the prevention of congenital malformations.…”

Section: The Causes and Possible Prevention Of Hypodontia In Humansmentioning

“…Early detection is important for individual symptom management and to potentially prevent morbidity and mortality associated with hypohidrosis. Additionally, early diagnosis may be important for family planning counseling, particularly in light of clinical trials working toward successful treatment of XLHED in‐utero (Schneider et al, ). Finally, a more complete understanding of the spectrum of XLHED characteristics may help clinicians counsel families about the natural history of XLHED, including variability of phenotypes.…”

Section: Introductionmentioning

“…New therapeutic options may arise from a recombinant EDA1 molecule, which rescued normal development in murine and canine models of XLHED . In order to achieve the same therapeutic effects in humans, prenatal administration of the EDA1 replacement protein appears to be required . Three recent case studies have shown that intraamniotic injection of recombinant EDA1 at the beginning of the third trimester of pregnancy may prevent the development of XLHED‐related morbidity .…”

Section: Introductionmentioning

“…In order to achieve the same therapeutic effects in humans, prenatal administration of the EDA1 replacement protein appears to be required . Three recent case studies have shown that intraamniotic injection of recombinant EDA1 at the beginning of the third trimester of pregnancy may prevent the development of XLHED‐related morbidity . A clinical trial to evaluate this therapeutic approach is currently being prepared.…”

Section: Introductionmentioning