2

I have an ALS-like disease called SMA type III. It's a progressive neurodegenerative disease and there was no cure until recently. I have been waiting for a cure for forty years. Thanks to technological advances in medicine, a pharmaceutical company in the USA developed a cure based on antisense oligonucleotide technology. Its name is Spinraza, it's proved to be effective in treatment and FDA approved it, it's on sale now but it's the most expensive drug in the world, about 75000$ per vial and I read that I need 8 intrathecal injections at least. Since it's at exorbitant price I need to look for alternative medicines.

Let me give a brief info about my disease:

It affects motor neurons in the spinal cord. Unlike ALS, upper motor region in the brain is not affected. And unlike ALS, the cause of the disease is known. I began to feel the symptoms when I was three years old. I had weak muscle tone, weakness and atrophy developed, so I can not use voluntary muscles effectively, I needed to exert much efforts to do simple movements in the early stages of the disease.

What reduced me to paralysis stems from deletion of codons from SMN1 gene located in 5th chromosome at 5q13 locus. Luckily another identical backup gene exists in the same chromosome called SMN2 but it unluckily has a single nucleotide transition from C to T in exon 7 region of SMN2, so it gives rise either to the loss of an SF2/ASF–dependent exonic splicing enhancer or to the creation of an hnRNP A/B–dependent exonic splicing silencer. As a result of that mutation, SMN protein can not include the "end parts" named exon 7 so it produces short-lived not fully functional protein which is essential for motor neurons.

Clinical trials concentrated on splice modifiers to include exon 7 during pre-mRNA and mRNA process. Trials proved that it's feasible. Another treatment approach is gene therapy.

What do you propose in my situation?

EDIT: I rearranged the question according to request from moderator.

closed as off-topic by Bryan Krause, Carey Gregory Jul 8 at 22:44

This question appears to be off-topic. The users who voted to close gave this specific reason:

  • "Questions requesting personal medical advice are off-topic here. Nobody here can properly address your health issues. Such questions should be taken to your personal physician who can examine you and access your full medical records. For more information, please see this meta post." – Bryan Krause, Carey Gregory
If this question can be reworded to fit the rules in the help center, please edit the question.

  • 2
    Check to see if there are any clinical trials being run, and if you can enroll. clinicaltrials.gov – Graham Chiu Jan 21 '17 at 9:04
  • 1
    Welcome to health SE :-). I am sorry to hear about your condition. The question on how to obtain a medicine is off-topic for this site since it is not about health as defined in the help center. The site deals with specific health topics and offers answers that can be backed up by scientific evidence, without providing personal medical advice. – Lucky Jan 21 '17 at 23:18
  • 1
    @Lucky This isn't a request on how to obtain a medication, but rather putting out "feelers" to see if there are other options or if this same type of medication is being made by another manufacturer at a lower price. – L.B. Jan 23 '17 at 17:51
  • After the edit the question is much clearer, but I would suggest being as specific as possible and ask directly your question from this comment, i.e. are there other therapeutic options or is the same type of medication being made by another manufacturer at a lower price. I think it would bring more specific answers. I did however retract my close vote. – Lucky Jan 23 '17 at 20:33
  • 1
    Asking what we propose in your situation is clearly asking for personal medical advice, which is strictly off topic here. I'm not sure how this question has escaped closure for so long, but now that it has you need to find a way to make it something that can be answered with an answer grounded in science rather than proposals, opinions, or advice. – Carey Gregory Jul 7 at 16:26
3

Nusinersen is a very new drug approved just a few days ago by FDA.

First of all you have to find a center were these injections can be performed (I guess there are just a few centers worldwide were these studies have been made).

Try having a look at FDA website at this page to find out key doctors who ran experimental studies. Then try sending them an email or getting in contact with them. Surely there will be other trials running or planned (and they will be the ones who will run them).

Then you have to solve the insurance part with their help.

  • Thank you for the info. Do I have any chance to utilize compassionate use program ? – kenn Jan 21 '17 at 20:53

Not the answer you're looking for? Browse other questions tagged or ask your own question.