Oral Iron for Erythropoietic Protoporphyrias

NCT ID: NCT02979249

Last Updated: 2020-09-11

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 16 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2016-12-31
• Study Completion Date: 2019-07-19

Brief Summary

In the medical literature there are conflicting reports on whether iron improves symptoms in patients with EPP and XLP. Giving iron to people who are iron deficient is thought to improve EPP symptoms. However, this has never been systematically tested. Therefore, the purpose of this study is to determine the effect of oral iron for EPP and XLP patients.

Detailed Description

This is a clinical trial, which means its purpose is to study an intervention or treatment. In this study all patients with EPP or XLP will be given a standard dose of iron pills and monitored for one year. There is currently no effective Food and Drug Administration (FDA) approved treatment for EPP or XLP in the US. Giving iron to patients with low ferritin (a measure of body iron stores) levels may help improve their EPP symptoms by decreasing erythrocyte protoporphyrin levels.

Patients will be asked come to the study site once every three months over the course of a year for a total of five visits. At these visits the study doctors will check in with participants and some blood and urine samples will be taken. Participants will not be charged for any of the lab tests that are being done for part of this study alone. In between these study visits there will be phone call to check in and see how participants are doing. All patients in this study will receive iron pills at no cost to them.

Conditions

Erythropoietic Protoporphyria; EPP; X-linked Protoporphyria; XLP

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Oral Iron

standard dose of iron pills

Group Type: EXPERIMENTAL

Oral Iron

Intervention Type: DRUG

for one year

Interventions

Oral Iron

for one year

Intervention Type: DRUG

Other Intervention Names

Ferrous sulfate USP

Eligibility Criteria

Inclusion Criteria

• Enrollment in the Longitudinal Study of the Porphyrias
• Male or female age ≥18 years
• History of nonblistering cutaneous photosensitivity
• Biochemical findings - A marked increase in erythrocyte protoporphyrin (total erythrocyte protoporphyrin >400 ug/dL) with a predominance of metal-free protoporphyrin
• Serum ferritin ≤30 ng/mL at baseline
• Able to tolerate oral iron

Exclusion Criteria

• History of liver or bone marrow transplant or clinically significant liver dysfunction as determined by the investigator
• Known or suspected allergy to oral iron based on patient report
• Clinical evidence of active and ongoing GI bleeding
• Use of any other clinical or experimental therapy in the past 3 months
• Individuals with elevations of porphyrins in plasma or erythrocytes due to other diseases (i.e. secondary porphyrinemia) such as liver and bone marrow diseases
• Patients with any clinically significant comorbid conditions, which in the opinion of the investigator, precludes participation

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

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

NIH

Sponsor Role: collaborator

Icahn School of Medicine at Mount Sinai

OTHER

Sponsor Role: lead

Responsible Party

Manisha C Balwani

Associate Professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Manisha Balwani, MD, MS

Role: STUDY_CHAIR

Icahn School of Medicine at Mount Sinai

Locations

University of Alabama, Birmingham

Birmingham, Alabama, United States

University of California

San Francisco, California, United States

Icahn School of Medicine at Mount Sinai

New York, New York, United States

Wake Forest University Health Sciences

Winston-Salem, North Carolina, United States

University of Texas Medical Branch

Galveston, Texas, United States

University of Utah

Salt Lake City, Utah, United States

Countries

United States

References

Balwani M, Naik H, Overbey JR, Bonkovsky HL, Bissell DM, Wang B, Phillips JD, Desnick RJ, Anderson KE. A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria. Mol Genet Metab Rep. 2022 Nov 14;33:100939. doi: 10.1016/j.ymgmr.2022.100939. eCollection 2022 Dec.

Reference Type: DERIVED

PMID: 36406817 (View on PubMed)

Provided Documents

Document Type: Study Protocol and Statistical Analysis Plan

View Document

Related Links

https://www.rarediseasesnetwork.org/cms/porphyrias/Studies

Porphyrias Consortium website

Other Identifiers

U54DK083909

Identifier Type: NIH

Identifier Source: secondary_id

View Link

GCO 08-0959-1001

Identifier Type: -

Identifier Source: org_study_id