National Organization for Rare Disorders (NORD)

announces

Research Seed Money Grant ($30,000)

for

Classical Homocystinuria (due to cystathionine beta-synthase [CBS] deficiency)

Submission Deadline: May 17, 2010

Classical homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare inherited metabolic condition. Infants who develop classical homocystinuria may exhibit failure to thrive and have developmental delays. By approximately age three, additional, more specific symptoms and findings may become apparent, including partial dislocation of the lens of the eyes (ectopia lentis), associated “quivering” of the iris (iridodonesis), severe myopia, and other ocular abnormalities. Although intelligence may be normal, in some cases children may be affected by progressive mental retardation. Skeletal abnormalities often become apparent during later childhood. In addition, affected individuals may be at risk for the development of blood clots that can become lodged within certain large and small blood vessels (thromboembolisms), potentially leading to life-threatening complications. The disorder is inherited as an autosomal recessive trait caused by mutations of a gene on the long arm (q) of chromosome 21 (21q22.3) that regulates the production of the CBS enzyme. The treatment of homocystinuria due to CBS deficiency is directed toward controlling the levels of homocystine. Treatment may include therapy with pyridoxine (vitamin B6), a diet that restricts the intake of protein and methionine, Cystadane therapy, and supplementation with folate (vitamin B9) or cobalamin (vitamin B12).

Research Objectives

The purpose of the NORD Research Grant Program is to encourage meritorious clinical studies designed to improve the diagnosis or therapy of rare “orphan” diseases. Grants will be awarded to academic researchers to initiate small clinical trials, the results of which could be used to obtain funding from NIH, FDA or other funding agencies, or to attract a corporate sponsor. Procedures or proposed therapeutic trials may be new, based on recent biochemical or pharmacological evidence, or in preliminary states of clinical investigation. Evaluation of proposals will include careful consideration of protocol design, objectiveness of parameters measured, and statistical evaluation proposed. Protocols that will focus on early detection, diagnosis, or treatment (pharmacological, devices, surgery, or dietary) will be given priority.

Application Procedure – Letter of Intent Deadline: May 17, 2010

• Complete pages 3 through 5 of this document
• An initial letter of intent
• A one-page abstract of the proposal
• Brief budget outline
• Cogent reasons why NORD funding is essential
• A biographical sketch and bibliography (forms provided)
• 14 copies of above documents, in addition to the original, to be received by May 17, 2010

FULL PROPOSALS

• Full proposal invitations will be announced, via email, the week of Junly 2, 2010. Applications for full proposals will accompany these announcements.
• Full proposals must be received by NORD by August 31, 2010.

AWARDING OF GRANT

• Award announcements will be made in mid-November 2010, via email.
• Funding will begin after all necessary documents (IRB forms, patient consent forms, signed application agreements) have been received by NORD.

FURTHER INFORMATION

• If the study involves human subjects, copies of the Informed Consent form and the Institutional Review Board committee report will be required from each site involved in the study, before payment can begin.
• Clinical drug trials must meet the requirements established by the Food and Drug Administration (FDA).
• If the study involves human gene therapy, a copy of the NIH Recombinant DNA Advisory Committee (RAC) or waiver of review will be required.

ABOUT NORD

The National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations and individuals dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, service, and research. Besides advocating for increased government research funding and referring patients to clinical trials and genetic investigations, NORD funds clinical research grants on new treatments for rare diseases.

To receive notification of future funding opportunities through NORD, email complete mailing address to: research@rarediseases.org.

Name of Researcher
Researcher’s Email
Researcher’s Mailing Address
City/State/Zip Country
Researcher’s Telephone
Researcher’s Fax
Institution(s) Where Research Will Be Conducted
City, State, Country of Institution(s)
Title of Project
Funding Amount Requested (Not to exceed $30,000)
Will Research Involve Human Subjects?	[ ] YES	[ ] NO
How Did You Hear About This RFP?	[ ] U.S. Postal Service Notice	[ ] Medical Journal Ad
	[ ] Email Subscription Service	[ ] Website Posting
Please Be As Specific As Possible:
Applicant Signature (required)
Please provide the following information and mail 14 copies of this application, in addition to the original, with attachments to be received by May 17, 2010 to: National Organization for Rare Disorders, (NORD) Attn: Stefanie Putkowski, RN, Research Program Administrator, PO Box 1968, 55 Kenosia Avenue Danbury, CT 06813-1968, USA			Yes/No
An initial letter of intent
A one-page abstract of the proposal
Brief budget outline. Do not include PI salary, overhead, or indirect costs. Funding can be used to cover expenses such as technical assistance, supplies, and small equipment.
Cogent reasons why NORD funding is essential
Biographical sketch and bibliography (Forms provided, see pages 4 & 5)

Biographical Sketch

Not to exceed 2 pages

Applicant may use this form or the NIH Biosketch form. Please modify the form to include, when applicable, the following:

Name Position/Title
Education/Training Begin with baccalaureate or other initial professional education and include postdoctoral training.	Institution and Location	Degree	Year(s)	Field of Study
Research and Professional Experience Concluding with present position, list in chronological order previous employment, experience, and honors. Include present membership on any advisory committee.
Honors and Awards
	Not to exceed 2 pages

Bibliography

Not to exceed 2 pages

Publications: List in chronological order the titles, all authors, and complete references to all publications in the last three years and to representative earlier publications pertinent to this application. If the list of publications exceeds two pages, select the most pertinent publications.