NCT02979249

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
16

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Dec 2016

Typical duration for not_applicable

Geographic Reach
1 country

6 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

November 29, 2016

Completed
2 days until next milestone

First Posted

Study publicly available on registry

December 1, 2016

Completed
Same day until next milestone

Study Start

First participant enrolled

December 1, 2016

Completed
2.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 19, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 19, 2019

Completed
1.2 years until next milestone

Results Posted

Study results publicly available

September 11, 2020

Completed
Last Updated

September 11, 2020

Status Verified

August 1, 2020

Enrollment Period

2.6 years

First QC Date

November 29, 2016

Results QC Date

August 24, 2020

Last Update Submit

August 24, 2020

Conditions

Erythropoietic ProtoporphyriaEPPX-linked ProtoporphyriaXLP

Keywords

Interventionalopen-labelEPPXLPporphyria

Outcome Measures

Primary Outcomes (1)

  • Change in Erythrocyte Protoporphyrin Levels

    Relative difference in erythrocyte protoporphyrin levels between baseline and 12 months after treatment

    Baseline and at 12 months

Secondary Outcomes (1)

  • Mean Change in EPP-specific Quality of Life Questionnaire

    Baseline and 12 months

Study Arms (1)

Oral Iron

EXPERIMENTAL

standard dose of iron pills

Drug: Oral Iron

Interventions

Oral IronDRUG

for one year

Also known as: Ferrous sulfate USP
Oral Iron

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (6)

University of Alabama, Birmingham

Birmingham, Alabama, 35294, United States

Location

University of California

San Francisco, California, 94143, United States

Location

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

Location

Wake Forest University Health Sciences

Winston-Salem, North Carolina, 27106, United States

Location

University of Texas Medical Branch

Galveston, Texas, 77555, United States

Location

University of Utah

Salt Lake City, Utah, 84132, United States

Location

Related Publications (1)

  • 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.

    PMID: 36406817DERIVED

Related Links

MeSH Terms

Conditions

Protoporphyria, ErythropoieticProtoporphyria, Erythropoietic, X-Linked DominantPorphyrias

Interventions

Iron

Condition Hierarchy (Ancestors)

Porphyrias, HepaticLiver DiseasesDigestive System DiseasesSkin Diseases, GeneticGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin DiseasesSkin and Connective Tissue DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Metals, HeavyElementsInorganic ChemicalsTransition ElementsMetals

Results Point of Contact

Title
Dr. Hetanshi Naik
Organization
Icahn School of Medicine at Mount Sinai
hetanshi.naik@mssm.edu
212-659-8512

Study Officials

  • Manisha Balwani, MD, MS

    Icahn School of Medicine at Mount Sinai

    STUDY CHAIR

Publication Agreements

PI is Sponsor Employee
No
Restrictive Agreement
No

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Associate Professor

Study Record Dates

First Submitted

November 29, 2016

First Posted

December 1, 2016

Study Start

December 1, 2016

Primary Completion

July 19, 2019

Study Completion

July 19, 2019

Last Updated

September 11, 2020

Results First Posted

September 11, 2020

Record last verified: 2020-08

Locations

US(6)