# RETT SYNDROME--PROGRAM PROJECT

> **NIH NIH P01** · BAYLOR COLLEGE OF MEDICINE · 1994 · $677,706

## Abstract

This is a competitive renewal of a multidisciplinary research program for
the study of the clinical, communicative, neurophysiological,
nutritional, epidemiologic, molecular genetic, and neuropathological
aspects of Rett syndrome (RS).  A variety of analytic modalities will be
employed to address the fundamental mechanism(s) responsible for this
disorder affecting females in early childhood.  The program project
consists of five projects, an administrative core, and a Design and
Analysis Core.  Project 1 will assess several problematic clinical
features of RS which have therapeutic implications:  the frequency,
severity, and pattern of progression of ECG abnormalities and the
possible relationship to sudden death in RS; the frequency of epileptic
and non-epileptic paroxysmal events by video/EEG/monitoring versus the
parental reports of seizures, the latter of which we regard as too high.

Project 7 will assess energy intake and expenditure in correlation with
sleep/wake cycle, heart rate variability and waking activity levels and
examine responses of those to nutritional supplementation.  Project 4
will continue the epidemiologic studies of the Texas RS Registry (TRSR)
and the international RS survival study as well as extend the strategies
of the TRSR to the state of Oregon with its significantly different
demographic characteristics.  Molecular genetic studies (Project 5) will
extend the important observations to-date focusing on the X-chromosome
with respect to translocation sites and candidate genes.  Project 6 will
expand the current neuropathologic observations and explore leads with
regard to specific brainstem receptors, cerebral cortex morphometry, and
possible mitochondrial dysfunction in muscle.  Through the Design and
Analysis Core, extensive networking will be developed to provide a
national database for RS investigators.  As stated in the previous
application, this research program has evolved from the concerted efforts
of clinical and basic researchers over the past eight years and
represents an important opportunity to extend these collaborations.

## Key facts

- **NIH application ID:** 2199098
- **Project number:** 5P01HD024234-07
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **SAM.gov UEI:** FXKMA43NTV21
- **Principal Investigator:** DANIEL G. GLAZE
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1994
- **Award amount:** $677,706
- **Award type:** 5
- **Project period:** 1988-05-01 → 1996-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2199098

## Citation

> US National Institutes of Health, RePORTER application 2199098, RETT SYNDROME--PROGRAM PROJECT (5P01HD024234-07). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/2199098. Licensed CC0.

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