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Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact

NCT01688895 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 150

Last updated 2020-04-17

Study results available
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Summary

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.

Conditions

Sponsors & Collaborators

  • Rare Diseases Clinical Research Network

    collaborator NETWORK

  • Office of Rare Diseases (ORD)

    collaborator NIH

  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

    collaborator NIH

  • Icahn School of Medicine at Mount Sinai

    lead OTHER

Principal Investigators

  • Manisha Balwani, MD · Icahn School of Medicine at Mount Sinai

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-07-31
Primary Completion
2019-07-01
Completion
2019-07-01

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01688895 on ClinicalTrials.gov