Hemochromatosis and cinical trials

by Stephen Cobb on August 29, 2013

Post image for Hemochromatosis and cinical trials

If you or a loved one suffers from hereditary hemochromatosis (HH), you may have experienced the widespread frustration that comes with this condition, frustration that you can’t get answers, or treatment, or relief from the damage done by iron overload. One non-conventional medical strategy you might consider is clinical trials.

Before you look at how to pursue this option please be advised that it is not for everyone. I think you need a good overall knowledge of human anatomy and biology to navigate this field. Plus some patience: Not all studies will apply to you, for a variety of reasons.

The Clinical Trials Site

A lot of people don’t know that the federal government in America tracks clinical trials online. That link will show you current trials around the world that are related to hemochromatosis. Last time I checked there were 40 of them, with 17 in the United States, as shown here:

map of hemochromatosis trials

Here is an example of a trial that is currently recruiting:

ClinicalTrials.gov Identifier: NCT00007150. This study will compare the usefulness of the ferritin test with that of MCV, which measures red blood cell size, in guiding phlebotomy therapy. In addition, the study will 1) examine whether keeping iron levels low during maintenance therapy can help heal severe liver disease and improve arthritis in affected patients, and 2) design a system for making blood collected from hemochromatosis donors available for transfusion into other patients.
This particular study needs participants who have hereditary hemochromatosis and clearly it will help further medical understanding of how to treat this condition. Some studies are geographically limited, and some involve non-hereditary forms of hemochromatosis. So there may not be a study near you that will help you. But it is worth keeping an eye on this site as trials can include free treatment, medication, and testing. And you might just help further the fight against HH!

{ 6 comments… read them below or add one }

Leslie N Johnston DVM August 29, 2013 at 5:17 pm

Very interesting. I invite you guys and gals to visit my web site to see just where I am coming from. I have been at this game since being confirmed to have it now for about 33 years. I have been spreading the word about it ever since. Please take the time to visit my web site: I try to tell it like it is.

About 2 weeks ago I finally got a guy to go and get tested for the big H, and the first question the doctor asked him was, “why do you want these tests done?” He came back positive. There is a lot of stupidity still out there even in the medical professions about the big H.

Thanks for reading this and at least browsing my web page.

I have seen too many people die from this condition and it was pure hell on them and their families as well. I know because my great Daddy was one of them.

Leslie N Johnston, DVM

Reply

Diana Blank August 29, 2013 at 5:55 pm

I would be pleased to participate in any clinical trials to further the treatment & control of HH. My grandfather died 75 yrs ago a young man less than 50 years of age. While tracking genealogy, I discovered the correct cause of his death & requested DNA testing to see if I carried the gene. Imagine my surprise to find that I was actually in full blown disease process. Neither parent had a clue they carried the gene. I am blessed to ahve no detectable damage and with dietary guide lines have been able to cut my plebotomy down to a couple of times a year. Having recently retired as a RN, I take my teaching side seriously to try to inform as many as possible to the dangers of this hidden hereditary issue.

Reply

tresa haywood November 26, 2013 at 12:07 pm

I too just found out I have two mutations of the disease with now organ damage from being caught too late. Both my parents died young and didnt know they had it and I had my 18 year old tested and he has one mutation. I would love to do a trial as well seeing as I have no insurance and insurance companies won’t give me insurance due to this disease

Reply

moira August 30, 2013 at 3:36 am

Im in the UK and have just found out the same thing, and to add in the process of telling far flung cousins have discovered that Freidrichs ataxia is also in the family, my three sons are being test soon as time is everything with this. I benefit from having the NHS here, but I am considering whether my own doctor can coordinate this whole thing, it will be costly not to mention take up a lot or her precious time, i also feel that at so much needs to be learned from this that I should be volunteering myself as available to be studied, one of my sons is 23 and is constantly complaining about his back needing stretching, has been xrayd for abnormal ankle bone appearance (no specific cause) , recently gound one of his teeth that badly that it broke in his sleep, and had severe sleep disturbances as a young child. academically my three sons have excelled at high school. My eldest son developed chronic fatigue and depressive illness and wanted to self harm. My sisters son 24 has mild autism only recently diagnosed and constantly rubs his thighs when he speaks, and has some involuntary facial spasms. It’s all so much to take in, awaiting news from my doctor re getting active with this thing now. A big worry is how many other gene problems are yet to be discovered, for the sake of my future grandchildren this needs research, and if that helps others to then I am in.

Reply

Lynda MD April 4, 2016 at 3:37 pm

This may be too late, I just came across this now in April of 2016. I, too have HH, mine is mostly expressed as the arthritis and muscle cramping. It is quite debilitating, my MRI films are a mess. It took a long time for the docs here in the US to finally figure out it was my HH that was the cause of all my pain. There is a current student in France about the use of an common rheumatoid drug to be used for us that I’d loved to be included in, but obviously distance would be in an issue. It would just be nice if doctors over here would get more educated about this disease, there are so many of us with it and it expresses itself in so many different ways. There is no excuse for the level of ignorance I have encountered! As a physician it is embarrassing….

Reply

arnold ronning September 1, 2016 at 3:39 pm

Hi, Lynda, I was diagnosed at age 30, relatively early, but by then it had taken a severe toll. To be honest, it was in college that I first noticed problems: occasional IBS-like symptoms, irritability, not depression, just melancholy. Totally weird for me. Then in medical school I developed increasing fatigue and lack of concentration, easy irritability, and poor sleep. IBS-like symptoms got worse but were still mild then (compared to now). I spoke to an attending, was diagnosed with ADD, and started on a stimulant. For two years I felt great, like the old self had returned. I got engaged. But then the fatigue crept back. By then I was in residency, and chalked it up to that. But it was unrelenting. By my third year I’d dropped to 110 pounds (at 5’7″), my libido was gone (I was a newly wed!). Finally at age 30 I was diagnosed. I was told to give blood and have a nice life. Well, I began giving blood and started private practice. Twice monthly phlebotomy for two years, every other night call, and I worked myself into exhaustion. I had a flirtation with adrenal failure and remain chronically hyponatremic. Resilience is the by-word these days, but my seemed shot. Ever since then I’ve battled chronic abdominal pain, easy fatigability, etc. While my father had cyclothymia (by the old moniker) following his open heart surgery, depression like this has not existed in our families. (Although possibly a 2nd cousin to my mother likely had it before I was born, and died of complications.) I’m now 47 years old, but have not been able to work full-time and gain financial independence. I’m not giving up yet, but when I was diagnosed I ignorantly thought that phlebotomy would right all wrongs. Well, it helped initially, but I was so depleted when I started work that I was unable to meet the demands, and have been reeling from the consequences since. In my estimation, there has to be more available than “give blood, have a nice life.” There needs to be a support network to deal with the inevitable sequelae after diagnosis.
OK, this is rambling far too long. But we screen for CF, no more common than hemochromatosis, and there is no definitive therapy. If we identified homozygotes early and had them phlebotomize from their teen years, it could prevent occult liver disease and HPA axis dysfunction. I have no doubt the joint manifestations are directly related to gut-liver disturbances and inflammation and could also be minimized, perhaps prevented with early identification, periodic phlebotomy, and education.
If you check this website or get notified of this reply, feel free to drop me a line at arnoldandreberg@gmail.com

Reply

Leave a Comment

Previous post:

Next post: