Treatment for Erythropoietic Protoporphyria (EPP)

Phase-Based Progress Estimates
1
Effectiveness
2
Safety
University of Texas Medical Branch, Galveston, TX
Erythropoietic Protoporphyria (EPP)+2 More
Eligibility
Any Age
All Sexes
Eligible conditions
Select

Study Summary

This study is evaluating whether a drug called cimetidine can help treat the symptoms of erythropoietic protoporphyria and X-linked protoporphyria.

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Eligible Conditions

  • Erythropoietic Protoporphyria (EPP)
  • X-linked Protoporphyria

Treatment Effectiveness

Effectiveness Estimate

1 of 3

Study Objectives

This trial is evaluating whether Treatment will improve 1 primary outcome and 4 secondary outcomes in patients with Erythropoietic Protoporphyria (EPP). Measurement will happen over the course of Last 2 months of each treatment period.

Before and after each 3-month treatment period
Erythrocyte total protoporphyrin level
Patient-reported quality of life
Month 2
Light dose
Phototoxic episodes
Time to prodrome

Trial Safety

Safety Estimate

2 of 3
This is better than 68% of similar trials

Trial Design

2 Treatment Groups

Cimetidine
1 of 2
Placebo
1 of 2
Active Control
Non-Treatment Group

This trial requires 20 total participants across 2 different treatment groups

This trial involves 2 different treatments. Treatment is the primary treatment being studied. Participants will all receive the same treatment. Some patients will receive a placebo treatment. The treatments being tested are in Phase 2 and have already been tested with other people.

Placebo
Drug
Placebo capsule orally twice daily
Cimetidine
Drug
Cimetidine 800mg orally twice daily

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: before and after each 3-month treatment period
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly before and after each 3-month treatment period for reporting.

Closest Location

University of Texas Medical Branch - Galveston, TX

Eligibility Criteria

This trial is for patients born any sex of any age. There are 5 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
Prior enrollment or co-enrollment in the Longitudinal Study of the Porphyrias (PC Study 7201) with a confirmed diagnosis of EPP or XLP
Male or female age ≥15 years at screening
Characteristic history of non-blistering cutaneous photosensitivity
Onset of prodromal symptoms (burning, tingling, itching, or stinging) within 30 minutes of strong light exposure
Willing and capable of giving informed consent and following procedures described in the protocol

Patient Q&A Section

Can ferrochelatase deficiency be cured?

"As ferrochelatase deficiency is frequently present with a variety of other defects in multiple metabolic pathways, as well as in various other medical disorders (e.g. diabetes), its exclusion needs to be considered as the only condition responsible for the presenting disorder. Thus, it seems difficult to expect a single gene condition to cure other disorders with which it is associated." - Anonymous Online Contributor

Unverified Answer

What is ferrochelatase deficiency?

"Data from a recent study demonstrates an effective and safe therapeutic approach to correcting FECH mutation. This approach could constitute a novel, safe, and affordable therapeutic option for the treatment of patients with FECH deficiency. Future studies are planned to validate the clinical efficacy of this approach in patients with other types of disease." - Anonymous Online Contributor

Unverified Answer

How many people get ferrochelatase deficiency a year in the United States?

"FECYAL syndrome is a rare cause of intellectual disability in North America. We report, for the first time, about the number of ECMO-treated patients with FACYAL syndrome per year in the US." - Anonymous Online Contributor

Unverified Answer

What are common treatments for ferrochelatase deficiency?

"While treatment is highly specific to the symptoms present, there are several general treatment strategies for all manifestations. Most commonly, patients will require a restriction of oral iron. There is no cure for FECH-related manifestations, so treatment is based on symptom management. If symptoms are not alleviated, patients will need to consider a liver transplant, which is the only guarantee for life. If a transplant is not possible, symptomatic treatment can be considered. Lastly, if other treatments are not effective, a gene therapy"

"Paraserianthes\n\nParaserianthes is a plant genus of about 30–40 species in the family Arecaceae." - Anonymous Online Contributor

Unverified Answer

What are the signs of ferrochelatase deficiency?

"Ferrochelatase deficiency is a rare disorder, with symptoms varying from asymptotic disease to sudden, acute death. The principal manifestations include delayed motor development, dyslexia, developmental delay and behavioral disturbances. A number of other signs may indicate the presence of ferrochelatase deficiency. These include: a positive family history of mental and/or neurologic symptoms, an abnormal level of ferriprotoporphyrin in blood and/or urine and/or an abnormal level of protoporphyrin in serum or red blood cell lysate." - Anonymous Online Contributor

Unverified Answer

What causes ferrochelatase deficiency?

"There can be a spectrum of diseases with different etiologies, each with different genotypes. A number of different genetic causes of FD have been identified, including an inherited deficiency of the enzyme, and a non-inherited deficiency leading to a low level of the enzyme in the patient with normal liver function tests." - Anonymous Online Contributor

Unverified Answer

What is the latest research for ferrochelatase deficiency?

"While most of the research on the disorder is limited to case reports, a few are starting to show the effect of treatment, such as [imipramine] for improving [physical] functioning using [FdU] and [Naltrexone] to treat [dizziness] that is related to [ferrochelatase deficiency]. (https://www.withpower.com/clinical-trials/ferrochetate-deficiency/). If you have [ferrochetate (Fe)] deficiency, contact your doctor to find solutions and help you find yourself a healthier lifestyle." - Anonymous Online Contributor

Unverified Answer

What is treatment?

"The treatment and medical care for ferrochelatase-deficiency patients will vary on a case-by-case basis. It may be necessary for patients to avoid metal ions or iron supplements prior to starting on chelation therapy to ensure that the toxic effects of chelation are not increased by pre-exposure to these metal ions or iron. In addition to regular blood draw and evaluation by your medical physician, the chelation regimen will depend on the amount of iron stores present in the body and how the individual responds to the chelation and blood draw. There are many treatments offered for ferrochelatase deficiency, and as more prospective studies become available, the chelation regimen that is most effective and safest will be revealed." - Anonymous Online Contributor

Unverified Answer

Does ferrochelatase deficiency run in families?

"Ferrochelatase deficiency appears to segregate as an autosomal dominant disorder. The frequency of HFE H63D homozygote individuals in the study population was 4.1%, which is in good accord with other populations. Inheritance was found to be multifactorial from these results. We propose that these rare individuals may have a different carrier frequency with HFE mutations as a factor." - Anonymous Online Contributor

Unverified Answer

Does treatment improve quality of life for those with ferrochelatase deficiency?

"Ferrochelatase deficiency is a serious disorder. Patients with this disorder have poor quality of life. The treatments used to treat this disorder do not improve quality of life, nor does routine follow-up improve survival in patients who develop complications." - Anonymous Online Contributor

Unverified Answer

How serious can ferrochelatase deficiency be?

"Patients with mild ferrochelatase deficiency show [little or no symptoms at all] and remain asymptomatic for years while their bodies are continuously being attacked by [ferrochelatase-deficient red blood cell-damaging] 'iron-trapping' macrophages. We conclude that patients with severe ferrochelatase deficiency, and the attendant blood impairment, show only [symptoms] of worsening [anemia], [in the case of severe anemia] [and] severe [anemia] due to [destruction of the red blood cell-heme complexes the macrophages produce or to] iron uptake by [macrophages]." - Anonymous Online Contributor

Unverified Answer

Who should consider clinical trials for ferrochelatase deficiency?

"Individuals with primary hyperlipidemia (FH) due to mutations in FECH should be screened for iron overload. Those with FECH deficiency and elevated serum ferritin should be encouraged to enroll in clinical trials, in both an early stage and a late stage. The most common clinical manifestations of a combined FECH deficiency+FH are elevated liver enzymes and hepatomegaly. For more information, refer to the ClinicalTrials.gov entry for NCT00111782." - Anonymous Online Contributor

Unverified Answer
Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.
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