Unplanned experiment reveals that caffeine could help in treating a rare genetic disease

An eleven-year-old French boy from Paris can literally not live without coffee due to his medical condition.

One day his parents mistakingly got decaffeinated capsules to keep their son’s rare genetic muscular disorder in check (his usual dose is two shots of espresso per day), provoking uncontrollable and painful muscle spasms. The agony lasted four days, after which the parents were told about their mistake by the boy’s doctor. And after he began drinking caffeinated coffee again, the symptoms subsided.

The doctor and lead author of the study, Emmanuel Flamand Roze from the Pitie-Salpetriere Hospital, in Paris had this to say:

“It’s one of those amazing cases of serendipity that dot the history of medicine,”

Dr. Roze said that the parents unknowingly conducted what scientists call a double-blinded placebo experiment – one of the most precise tests that can be done to prove whether a treatment or drug actually works. “Double blind” translates into neither the people carrying out the experiment nor the patient having a clue whether the medicine is the real deal or a fake.

In this case, the efficacy of caffeine as a treatment for dyskinesia – part of a family of disorders characterized by involuntary, malevolent muscle movements caused by a mutation in the ADCY5 gene – was proven.

“The arms, legs, and face all move wildly,” “This child couldn’t ride a bike, walk home from school, write with a pencil—a seizure-like crisis could strike at any time,” Dr. Roze explained.

ADCY5-related dyskinesia, also known as facial myokymia, is a condition sometimes misdiagnosed as cerebral palsy. For this rare disease, there is still no known cure. In its normal state, the gene provides instructions to the body for creating an enzyme that aids the regulation of muscle contraction. The role of caffeine here is helping to restore the process after the mutation has disrupted it.

For a long time, doctors have known that strong coffee helps quell these muscle spasms, but there are simply not enough patients to conduct an experiment in which one group would take the “medicine”, while another takes a placebo look-alike, and this due to the rarity of the condition.

In addition, an experiment of this kind would most likely raise ethical issues since researchers would be aware ahead of time that the placebo group would be at risk to suffer severe discomfort.

The study was published in the US-based Annals of Internal Medicine.

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