Clinical and Molecular Studies of the Erythropoietic Protoporphyria Phenotype

ID Number 08-0959-00004

Principal Investigator(s)
Manisha Balwani

Department(s) or Division(s)
Genetics and Genomic Sciences

Research Entity
Porphyria Comprehensive Diagnostic and Treatment Center


The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of the erythropoietic protoporphyrias, including autosomal recessive Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP) for clinical, biochemical, and genetic studies. The long-term objectives are 

  1. to conduct a longitudinal investigation of the natural history, complications, and therapeutic outcomes in people with erythropoietic protoporphyria,
  2. to systematically investigate the psychological effects of the erythropoietic protoporphyrias on children and adults, and 
  3. to investigate the correlation between the identified genotypes and the resulting clinical presentation, also determining the possible interaction of other genetic markers.

Contact Information
Hetanshi Naik
(212) 241-7699

Recruiting Patients: Yes