Genetics
This condition is caused by mutations in the WFS1 gene, these mutations are inherited in an autosomal dominant manner, meaning that for a person to exhibit the symptoms of Wolfram-like syndrome, they must have at least one copy of the mutation that is responsible for the phenotype of the disorder, this mutation is usually inherited, but there are cases where the mutation is de novo, meaning that it wasnt inherited from either parent, but rather the result of a spontaneous error in cell division.This gene encodes a protein called wolframin, the mutations typically found in people with this condition cause the production of a protein that is either absent or has little to no function at all.Mutations in this gene are also associated with other disorders affecting vision or hearing, (aside from Wolfram syndrome) such as non-syndromic autosomal dominant deafness type 6., isolated autosomal dominant congenital cataract, etc. In rare cases, a mutation in the CDK13 gene instead of the WFS1 gene is responsible for the disorder, this genetic mutation has only been described in 3 affected children belonging to a consanguineous Pakistani family who, in addition to the typical symptoms of the disorder, also had anomalies affecting the gastrointestinal tract, congenital heart defects, and clinodactyly.
Macimorelin (INN) – or Macrilen (trade name) – is a drug that was developed by Æterna Zentaris for use in the diagnosis of adult growth hormone deficiency. Macimorelin acetate, the salt formulation, is a synthetic growth hormone secretagogue receptor agonist. It is a growth hormone secretagogue receptor (ghrelin receptor) agonist causing release of growth hormone from the pituitary gland.Macimorelin acetate is described chemically as D-Tryptophanamide, 2-methylalanyl-N-[(1R)-1-(formylamino)-2-(1H-indol-3-yl)ethyl]-acetate. Macimorelin (Macrilen™) was invented and first synthesized by the research group of Professor Martinez at University of Montpellier, Centre National de la Recherche Scientitifique (CNRS), France. This transpired from a long-lasting research collaboration with Aeterna Zentaris. Aeterna Zentaris later in-licensed macimorelin as a development candidate from the CNRS and proceeded with the pre-clinical and clinical development of the compound. As of January 2014, it was in Phase III clinical trials. The phase III trial for growth hormone deficiency is expected to be complete in December 2016.As of December 2017, it became FDA-approved as a method to diagnose growth hormone deficiency. Traditionally, growth hormone deficiency was diagnosed via means of insulin tolerance test (IST) or glucagon stimulation test (GST). These two means are done parenterally, whereas Macrilen boasts an oral formulation for ease of administration for patients and providers. The U.S. Food and Drug Administration (FDA) considers it to be a first-in-class medication. See also
List of growth hormone secretagogues

References
External links
"Macimorelin". Drug Information Portal. U.S. National Library of Medicine. "Macimorelin acetate". Drug Information Portal. U.S. National Library of Medicine.