Extremely Positive Results Announced from Interim Analysis of Phase 2 Clinical Trial for Hemochromatosis

Hereditary Hemochromatosis

Hereditary hemochromatosis (HH) is a rare disease caused by hepcidin deficiency or hepcidin insensitivity. Hepcidin naturally regulates iron absorption/distribution in the body. Without hepcidin, HH patients suffer from excess amounts of iron in the body. These extreme levels of iron cause abdominal pain, joint pain, weakness, and fatigue.

When HH is not treated it can lead to heart disease, liver cirrhosis/cancer, and diabetes as iron accumulates in the heart, liver, and other vital organs.

Unfortunately, there has yet to be a pharmalogic treatment approved by the FDA for HH. The standard care for HH patients revolves around lifelong phlebotomy procedures. This is effective because most of the iron is located within the red blood cells. Some patients necessitate more frequent procedures than others, but typically they are needed 1-2 times each week during the period right after diagnosis, switching to one treatment every 1-3 months for the rest of the patient’s life.

As you can imagine, these procedures can impact HH patient’s quality of life. Not only are they time-consuming, they can cause fatigue, pain, dizziness, and bruising. Additionally, those with anemia, heart disease, or poor venous access may not be able to receive phlebotomies at all.

This patient population is more than ready for an alternative treatment option. However, It has been over a decade since a new therapeutic option for HH has been uncovered.

An ideal therapy would be one that could be self-administered, and would actually combat the underlying cause of the condition.


The LJ401-HH01 clinical trial is a Phase 2 placebo-controlled, randomized, double-blind study occurring at multiple trial sites across the globe.  It is being conducted by La Jolla Pharmaceutical Company. It aims to evaluate both the safety and efficacy of LJPC-401 in HH patients.

LJPC-401 is a formulation of the hepcidin hormone which researchers believe could effectively treat HH. This therapy is also being developed for secondary iron overload diseases including sickle cell disease (SCD), beta thalassemia (BT), polycythemia vera (PV), and myelodysplastic syndrome (MDS).

The LJ401-HH01 trial has 60 participants who have all been randomized to either receive placebo or LJPC-401 by subcutaneous injection each week for 16 weeks. The primary endpoint is the change in transferrin saturation (TSAT) which measures iron levels within the body. The secondary endpoint is the requirement of/frequency of phlebotomies.

The company has just released extremely positive interim results for this investigation, with full results expected by the second half of this year.

Interim Analysis

The efficacy interim analysis of the primary endpoint included 26 participants who had concluded the treatment period. 12 had received the LJPC-401 therapy and 14 had received placebo. Those who were given the therapy had an average reduction in TSAT of 42%. Those who were given placebo only had an average reduction of 6%.

In terms of the secondary endpoint, those who were given the therapy necessitated 0.06 phlebotomies each month. Those who were given placebo necessitated 0.41 phlebotomies each month.

Both the primary and secondary endpoints in this interim analysis were statistically significant. Additionally, the treatment was shown to be well tolerated. The safety interim analysis included 60 participants. All of the AEs were mild to moderate in terms of severity. The most common AEs were reactions at the injection site (79% of those given LJPC-401 and 6% of those given placebo), but none of these reactions were serious enough to necessitate discontinuation of the treatment.

Hopefully, this trial will continue to produce the positive results indicated in this interim analysis, this therapy will receive approval, and HH patients will receive a new treatment option. This therapy could significantly improve the quality of life of this patient population and researchers are extremely excited about the development of this treatment.

You can read more about this clinical trial and LJPC-401 here.

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