CDA Type I Clinical Trial
Congenital Dyserythropoietic Anemia Type I (CDAI) is a recessive autosomal disease caused by
ineffective erythropoiesis that causes Anemia & accumulation of iron due to increased
absorption of iron in the intestine.
The iron is being accumulated in the body & causes damage of the liver, heart & endocrine
glands.
The standard follow up of iron levels is done by ferritin blood test & although the test is
not accurate it is the most available.
Medical treatment to removal of iron excess from the body is given in ferritin levels of
500-1000.
3 drugs are approved in the market:
- Deferoxamine, given subcutaneous during the night, 5-7 nights/week and therefore is
less used today.
- Deferiprone-given 3 times a day, is a weaker chelator, although it seems like it is
good to give it in combination with one of the 2 other drugs because it removes the
iron from the heart's cells better.
A rare but severe adverse effect is Agranulocytosis. This drug is usually not given in
childbirths.
-The 3rd drug which is mostly in use today is Deferasirox, given once daily, but has also
adverse effects, among them- damage of liver & kidney function, damage to the digestive
system, hearing and seeing.
Iron is being absorbed in acidic area, & thus drugs which decrease the acidity like hydrogen
pump's inhibitors, can inhibit the absorption of iron, and indeed there are reports that
these drugs decrease the absorption of iron and were used as treatment to hemochromatosis as
well.
Those hydrogen pump's inhibitors have also adverse effects. The rarest but most severe is
intestine infection by Clostridium.
In children, reports of adverse effects are minimal- mostly headaches & abdominal pains and
nosocomial infections. In adults, there are reports of fractures, magnesium deficiency &
vitamin B12 deficiency. All in all, the adverse effects are rare & uncommon.
The aim of this study is to check whether treatment with drug which inhibits the hydrogen
pump and therefore decreases acidity, will reduce the iron's absorption in patients with CDA
TYPE I and whether it will be possible to use it for a period instead of giving drugs which
have much more adverse effects, for removal of iron excess from the body.
Therefore, we would like to enroll 10-12 patients over 30 kg who can swallow tablets (age
over 12) and whose ferritin levels are higher from the normal range, but still don't require
medical treatment (ferritin levels between 400-700).
These patients will be given LOSEC 20 mg X 1/day for 6 months. That group will be her own
control group in the 6 months later. Drug will be dispensed to the patients.
In the beginning of the study, after signing Informed Consent Form, blood tests will be
taken for Complete Blood Count, iron levels, iron saturation, ferritin, complete chemistry
panel, including calcium & magnesium.
Same tests will be taken after 3 and 6 months and also 3 and 6 months after end of
treatment.
In every event of fever, headaches, abdominal pain or diarrhea, patients need to apply the
doctor and report.
;
Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment