To require increased activities by the National Institutes of Health and the Centers for Disease Control and Prevention regarding Diamond-Blackfan anemia, and for other purposes.

June 12, 2003

Mrs. MCCARTHY of New York (for herself and Mr. QUINN) introduced the following bill; which was referred to the Committee on Energy and Commerce

To require increased activities by the National Institutes of Health and the Centers for Disease Control and Prevention regarding Diamond-Blackfan anemia, and for other purposes.

Be it enacted by the Senate and House of Representatives of the United States of America in Congress assembled,

SECTION 1. SHORT TITLE.

This Act may be cited as the `Diamond-Blackfan Anemia Research and Care Act'.

SEC. 2. FINDINGS.

The Congress finds as follows:

(1) Diamond-Blackfan anemia is a rare genetic bone marrow failure disorder, which develops in infancy and results in severe anemia due to failure to make red blood cells.

(2) Diamond-Blackfan anemia patients have an increased risk of leukemia, solid tumors, and complete bone marrow failure.

(3) Fifty percent of patients with Diamond-Blackfan anemia are born with birth defects, including abnormalities to the face, head, upper arm and hand, genitourinary, and heart, and 21 percent of the affected patients have more than 1 defect.

(4) Treatments for Diamond-Blackfan anemia, including the use of blood transfusions and steroids such as prednisone, have potential long-term side effects, including osteoporosis, iron overload (because of the transfusions), and impaired growth (because of the steroids).

(5) The only cure for Diamond-Blackfan anemia is a bone marrow transplant, a procedure that carries serious risks and, since most patients lack an acceptable donor, is an option for only about 25 percent of patients.

(6) Because Diamond-Blackfan anemia is a genetic disorder of red cell production and a cancer predisposition syndrome with a high rate of congenital anomalies, the Federal investment regarding Diamond-Blackfan anemia must be expanded to allow the careful dissection of this disease, which will provide valuable insights into the biology of blood disorders and cancer predisposition and serve as an important model for understanding the genetics of birth defects.

SEC. 3. DIAMOND-BLACKFAN ANEMIA.

(a) DBA-RELATED ACTIVITIES OF NIH- Part A of title IV of the Public Health Service Act is amended by inserting after section 404G (42 U.S.C. 283i) the following:

`DIAMOND-BLACKFAN ANEMIA

`SEC. 404H. (a) IN GENERAL- The Director of NIH, in coordination with the Directors of the National Heart, Lung, and Blood Institute, the National Institute of Diabetes and Digestive and Kidney Diseases, and the Office of Rare Diseases, shall expand and intensify research and related activities of the National Institutes of Health with regard to Diamond-Blackfan anemia.

`(b) COMPREHENSIVE RESEARCH INITIATIVE-

`(1) IN GENERAL- In carrying out this section, the Director of NIH shall make grants to, or enter into contracts with, public or private entities to support a comprehensive research initiative to study, develop better treatments for, and ultimately find a cure for Diamond-Blackfan anemia.

`(2) RESEARCH- The initiative supported under this subsection may include research on the following:

`(A) The links of Diamond-Blackfan anemia to chronic diseases.

`(B) Red cell differentiation.

`(C) The pathophysiology of Diamond-Blackfan anemia.

`(D) The relationship between Diamond-Blackfan anemia and predisposition to cancer.

`(E) Congenital anomalies in Diamond-Blackfan anemia patients.'.

(b) DBA-RELATED ACTIVITIES OF CDC- Part B of title III of the Public Health Service Act (42 U.S.C. 243 et seq.) is amended--

(1) by moving section 317R so that it follows section 317Q; and

(2) by inserting after section 317R the following:

`SEC. 317S. REGISTRY AND CLINICAL CARE CENTER FOR DIAMOND-BLACKFAN ANEMIA.

`(a) REGISTRY- The Secretary, acting through the Director of the Centers for Disease Control and Prevention, shall maintain and expand the Diamond-Blackfan Anemia Registry (in this section referred to as the `Registry').

`(b) COMPREHENSIVE CLINICAL CARE CENTER-

`(1) ESTABLISHMENT- The Secretary, acting through the Director of the Centers for Disease Control and Prevention, shall establish a comprehensive clinical care center for Diamond-Blackfan anemia where a majority of the patients with the disease are examined, treated, and tracked through the Registry, by experts in the disease.

`(2) DUTIES- The center established under this section shall--

`(A) gather and analyze extensive data on Diamond-Blackfan anemia to be used for public, non-profit, and government research initiatives involving gene discovery, ribosomal protein function, genetics of birth defects, blood cell formation (recovery from cancer chemotherapy), cancer predisposition, red cell differentiation, and a comparison of therapeutic treatments including blood transfusion, steroids, and bone marrow transplants;

`(B) provide thorough examinations of Diamond-Blackfan anemia patients by experts in the disease to confirm diagnosis and provide genetic typing along with a multi-system evaluation; and

`(C) provide clinical care for Diamond-Blackfan anemia.'.

END