The rare disease nonprofit EspeRare has partnered with dermatological rare disease drug developer Dermelix Biotherapeutics to co-develop Dermelix lead program, DMX-101, a potential in utero protein replacement therapy to treat X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare pediatric genetic disease.

If successful, it could become the first ever drug administered in utero correct a genetic disease before birth.

XLHED is a rare genetic disorder affecting ectodermal structures including sweat glands, respiratory glands, skin, hair, and teeth. It is caused by mutations in the EDA gene, which encodes for an important ectodermal developmental protein, EDA. It occurs in about four out of every 100,000 live male births per year. The absence of functional EDA results in abnormal development of the skin, sweat glands, sebaceous glands, hair, oral cavity, and respiratory mucosal glands resulting in serious life-threatening clinical manifestations from birth including hyperthermia, craniofacial anomalies, and recurrent respiratory infections that impair quality of life in patients and their families. There are currently no approved therapies for treatment of XLHED and the current standard of care is only palliative.

Dermelix’s DMX-101 is a protein replacement therapy designed as a substitute for endogenous EDA, the protein missing in XLHED. It is administered during late fetal development through a single-course treatment delivered into the amniotic fluid. The approach has already demonstrated significant benefits in a prenatal study, the results of which were recently published in the New England Journal of Medicine.

“Patients with rare diseases so often lack the treatment options they need. This partnership with Dermelix represents an amazing opportunity to bring an innovative therapy to patients and to potentially change their lives radically,” said Caroline Kant, founder and CEO of EspeRare. “Beyond XLHED, we are committed to paving the way for other prenatal treatments to correct genetic diseases before birth.”

Under the terms of their agreement, EspeRare will sponsor the development of DMX-101 in Europe, where it was accepted under the EMA’s Priority Medicines scheme and benefits from Orphan Drug designation. Dermelix will sponsor the development of DMX-101 outside of Europe and will be responsible for its commercialization worldwide.

The partners plan to start patient enrollment for a pivotal study in the second half of 2019, first in Europe and then in the United States. DMX-101 has Orphan Drug designation and Fast Track designation from the U.S. Food and Drug Administration.

“It is both tremendously exciting and humbling to be able to participate in such a groundbreaking program,” said Nick France, chief medical officer of Dermelix.  “The ability to correct a severe disease before birth represents a huge step forward in therapeutic paradigms.”

As part of their agreement, both partners have committed to fully and transparently engage with the patient community through a Patient Advisory Council.

Photo: Caroline Kant, founder and CEO of EspeRare