# ERYTHROPOIETIC PROTOPORPHYRIA:  MECHANISM OF DISEASE

> **NIH NIH R01** · NEW YORK MEDICAL COLLEGE · 1990 · $242,931

## Abstract

Pathophysiologic mechanisms underlying cutaneous photosensitivity and hepatic
failure in erythropoietic protoporphyria (EPP) and related porphyric disorders
will be investigated.  EPP is currently being recognized in increasing numbers
of cases, but its pathophysiology remains undetermined or controversial.
Whether bone marrow or hepatic tissue or both, are major sites of the excess
protoporphyrin (PP) synthesis will be studied in vitro and in vivo, in animal
models and patients.  Whether ferrochelatase deficiency is a primary or
secondary defect of this disease will be evaluated in a mitogen transformed
lymphocyte culture system utilizing lymphocytes from EPP patients.  Rodent liver
systems will be used to evaluate the kinetics of hepatic protoporphyrin
clearance and/or deposition from a circulating blood pool; and factors which may
influence these kinetics (including some with potential for therapeutic benefit)
will be studied in the same systems.  In vivo testing of therapeutic modalities
of potential benefit in EPP will be performed using the griseofulvin-induced
murine protoporphyria model.  Clinical trials of anion exchange resins for
removal of protoporphyrin from circulation in EPP patients will be conducted
after metabolic balance studies to establish the dynamics of protoporphyrin
production and excretion without therapy are completed.  Serial measurement of
erythrocyte, plasma and stool protoporphyrin; rates of diffusion of
protoporphyrin from erythrocytes; serum carotene and hemopexin values will be
performed over several years in EPP patients, seeking correlations with severity
of cutaneous photosensitivity, propensity for liver damage and seasonal
influences on circulating porphyrin burden.

## Key facts

- **NIH application ID:** 3154989
- **Project number:** 5R01AR018549-15
- **Recipient organization:** NEW YORK MEDICAL COLLEGE
- **SAM.gov UEI:** WK63UJ11C2H7
- **Principal Investigator:** MAUREEN B POH
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1990
- **Award amount:** $242,931
- **Award type:** 5
- **Project period:** 1987-02-01 → 1991-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/3154989

## Citation

> US National Institutes of Health, RePORTER application 3154989, ERYTHROPOIETIC PROTOPORPHYRIA:  MECHANISM OF DISEASE (5R01AR018549-15). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/3154989. Licensed CC0.

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