The proceedings have been published in the Journal of Inherited Metabolic Disease     Volume 32 No 3 June 2009



First Annual Symposium on Pediatric Neurotransmitter
Diseases May 18 to 19, 2002 Annals of Neurology Vol 54 Supplement 6 2003 For a free copy of the Journal
[email protected]


PND Research Grant Program

Request for Proposals

The Pediatric Neurotransmitter Disease (PND) Association is pleased to announce the availability of up to $200,000 in grant awards for research involving the detection, diagnosis, and/or treatment of diseases related to neurotransmitter metabolism.

The grants will be divided among one or two year grants with a preliminary allocation among the diseases currently represented by the PND Association as follows:

Succinic Semialdehyde Dehydrogenase Deficiency(SSADH)
Tyrosine Hydroxylase Deficiency (TH)
Aromatic L Amino Acid Decarboxylase Deficiency (AADC)
GTP I Cyclohydrolase Deficiency (GTPCH)
Sepiapterin Reductase Deficiency (SR)
Non disease specific PND research

A summary of significant dates for this grant program appear below: 
Letter of Intent July 1st, 2009
Application Deadline October 1st, 2009
Grants to be Announced March 1st, 2010


Pediatric neurotransmitter disease is an umbrella term for a group of rare genetic disorders that affect the synthesis, metabolism and catabolism of neurotransmitters. Individually, these disorders may be considered rare, but cumulatively the incidence may be higher than observed due to under diagnosis. Because many clinical and biochemical abnormalities of PND’s remain poorly understood, the PND Association is seeking proposals for research that will shed light on any aspect of these diseases.

Types of Proposals Sought

Basic Science and Research

  • Understand the molecular and biochemical pathogenesis of PND's and response to treatment.
  • Develop new approaches to neurotransmitter biology using cellular and animal systems.
  • Develop animal models of PND mutations.

Clinical Research  

  • Understand the natural history of specific PND's. 
  • Understand epidemiology of PND's (e.g. frequency, ethnicity, disparity)
  • Establish common protocol for the evaluation of patients with PND's.
  • Understand pharmacological effects on PND's.
  • Develop clinical-biochemical correlations.
  • Create an international longitudinal database on PND's.
  • Develop improved genetic counseling, as well as research required to provide accurate information about prognosis and recurrence risk.


  • Develop common definitions leading to diagnostic criteria and standards for all diagnostic testing, including imaging.
  • Develop least invasive methods of diagnosis.
  • Develop rapid and accurate detection of DNA mutations.


  • Develop and test strategies leading to extended life span, improved quality of life, and cure for PND's.
  • Support clinical trials using appropriate, objective outcome criteria.
    Understand the response to, and side effects of therapeutic strategies (i.e. pharmacological treatment, diet etc). 
  • Understand the response to, and side effects of therapeutic strategies (i.e. pharmacological treatment, diet etc).

Application Process


Letters of Intent must be received by the PND Association by July 1, 2009.

Initial letters of intent will be evaluated by an independent Grant Review Committee (GRC) chaired by Dr. Darryl De Vivo, MD of Columbia University Medical Center. The GRC will evaluate all letters of intent and determine which ones will be selected for further consideration.

If selected, a full grant application must be received by the PND Association by October 1, 2009. The GRC will review and rank all grant applications and make its recommendations to the PND Board of Directors for final funding determinations.

The Letter of Intent must include the following;

1. Objective
2. Which specific PND disease the research relates to and/or relevance to PND’s
3. Hypothesis or hypotheses to be tested.
4. Approximate amount of funding requested
5. Approximate timeline for research project

Invited Applications should include the following;

  • Description of the proposed project (no longer than 5-10) pages.
  • Curriculum Vitae for the principal investigator and other researchers.
  • Financial accounting of how funds will be spent.
  • Start date of the project and project timeline.
  • A letter from an official of the sponsoring institution endorsing the project and committing that adequate facilities will be available to conduct the research proposed.

Please note that we do not provide any indirect costs to the institution. Research and clinical protocols must conform to legal and regulatory standards established by the FDA and other governmental agencies.

The PND Association reserves the right to cancel grants for cause at any time and require the return of funds.


PND Association
PO Box 180622
Delafield, WI  53018
phone: 262-646-5133
e-mail: [email protected]