Making a Mark– Mighty enthusiasm for what Mark2Curators have done

As promised in last week’s blog post, we’d like to share some of the feedback we received from our update meeting with Dr. Hudson Freeze, the Mights, and Karen Ho (NGLY1.org’s Chief Scientific Officer.)  The Mark2cure development team started the meeting with a summary of what the Mark2Cure community has accomplished and its future directions (see blog post for details).

Because our visualization tool wasn’t (and still isn’t) ready yet (we’re getting close), we screen-shared the static image of the network built from the Alacrima and FBX-Engase doc sets.   After overcoming the technical difficulties and spotty internet issues, Matt Might was finally able to see the image, and exclaimed, “ACTH?!  Hey, this worked great for Bertrand for a while, until it almost killed him!”

Cristina was also amazed that Mark2Curators were able uncover this treatment.  Although the Might’s have already tried this treatment, Cristina couldn’t contain her enthusiasm for what could be found in the other doc sets.  “You can’t believe how excited we are to see real results coming out of M2C so quickly! You guys and all the volunteers are amazing!

What is ACTH?– Bertrand’s experience with the treatment link Mark2Curators uncovered.
ACTH (AKA adrenocorticotropic hormone, or corticotropin) is a hormone that stimulates the secretion of glucocorticoid steroid hormones by the adrenal glands.  Glucocorticoids (GCs) reduce immune activation (inflammation).  Inflammation in the brain is known to be involved in some forms of epilepsy, hence ACTH has been used as a temporary treatment for epilepsy.  ACTH is only used temporarily since prolonged induction of glucorticoids can impeded crucial anabolic processes in the long term. In addition to the long list of physiological side effects, there were two additional drawbacks to this treatment:

  1. It has to be injected.  For Bertrand, this would mean a painful injection twice a day for the duration of the treatment.  For Cristina, it would mean having to give these painful injections twice a day.
  2. Bertrand would be immunosuppressed, putting him at greater risk for infection.  Throughout his ACTH treatment, Bertrand would have to stay out of preschool to reduce his risk of catching something.

After 4 days of ACTH treatment, Bertrand produced a few tears; and after 7 days, he stopped having certain types of seizures. After 5 weeks, Bertrand’s EEG improved drastically; however, he’d gained a dangerous amount of weight and caught RSV-pneumonia which nearly killed him. Help uncover more potential treatments.


2 Comments

  1. Steven Rios

    Well, I alos have the same question about ACTH.

  2. Ronald W Clagett

    I like the progress the team is making.I will pray we make more progress .

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