A condition called XLHED that was thought to be incurable has been treated, and a paper describing the procedure, which can be found here, was released on the 26th April this year. It is the first successful treatment of a genetic disorder of a fetus still in the womb. You can read the full story here, at MIT Technology Review.

The disease, XLHED (X-linked hypohidrotic ectodermal dysplasia), is a rare genetic inherited disorder that affects about 1 in every 25,000 people. Those who have it are unable to sweat enough and are likely to show other symptoms such as sharp or missing teeth, fine hair, dry eyes, nose, and mouth, and eczema. People with the disease may be more prone to respiratory infections, skin conditions, and need dental intervention for their teeth. The most serious effect of the condition, though, is the risk of overheating from an inability to sweat, which can be life-threatening in young children. Babies can heat up very quickly and aren’t able to cool themselves down by finding shade or water in the way that older children can – and this can be potentially fatal. However, the threat of this causing a serious problem decreases with age as children learn how to artificially cool themselves.

XLHED is caused by a change in the EDA gene that codes for a protein involved in building hair, skin, nails, teeth, and sweat glands. It can be passed on from fathers to daughters and from mothers to both sons and daughters, but not from fathers to sons.

A possible protein replacement treatment for the condition was researched at a clinic at the University of Erlangen-Nürnberg in Germany, which specializes in rare skin conditions. Unfortunately, the drug was found to be ineffective and the trial was stopped. The company behind the drug, Edimer Pharmaceuticals, also closed down. However, animal trials had shown that the drug could be effective when injected into the fetus during pregnancy. A German nurse who had heard about this study asked a researcher at the University to carry out the same procedure on her. She had a two-year-old son with the disease and was now pregnant with twins that had been confirmed through ultrasound to both carry the condition too.

After receiving approval under the ‘compassionate treatment’ exemption that allows unapproved medicines to be used in exceptional circumstances, the procedure was carried out. This was the first time that it had been attempted on a human, and successfully treating a genetic disorder before the patient had been born had never been done before. The risk to the pregnant mother and the fact that the procedure was being done on two twins rather than a single fetus made the doctors cautious. However, the procedure was a success.

It was carried out during a specific window of time – between weeks 20 and 30 when the protein is needed to form the sweat glands of a fetus. The protein replacement, taken from the previous study, was injected into the amniotic sacs. The fetuses went on to develop sweat glands normally, making this the first time that a genetic disease has been treated in an unborn fetus.

The success of this procedure brought it to the attention of other parents whose children carried the gene for XLHED. It has so far been performed on one other fetus, bringing the total number of children treated up to three, all of which are considered successful. The doctors behind the procedure are hoping to organize a clinical trial to fulfill the demand for more procedures.

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