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Porphyria non-acute – Trials in Disease

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Ongoing Clinical Trials for Porphyria Non-acute

There are currently 4 clinical trials investigating new treatments for porphyria non-acute, specifically focusing on Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP). These studies are testing medications that aim to reduce skin sensitivity to sunlight and improve patients’ ability to spend time outdoors without painful reactions. Trials are taking place across multiple European countries and involve both adults and adolescents.

Clinical trial locations

Study on the Safety and Tolerability of Oral Dersimelagon for Patients with Erythropoietic Protoporphyria or X-Linked Protoporphyria

This long-term extension study evaluates the safety and tolerability of Dersimelagon, an oral medication, in patients with EPP or XLP. These are rare genetic conditions that cause painful skin reactions when exposed to sunlight, including burning, itching, and swelling.

Inclusion criteria: Participants must have completed a previous study through Week 58, provide written consent (with parental consent required for adolescents), meet minimum body weight requirements, and be willing to travel to study sites. Female participants must have negative pregnancy tests and agree to use two effective contraception methods along with male participants whose partners can become pregnant.

Exclusion criteria: People without confirmed EPP or XLP, those outside specified age ranges, individuals unable to follow study procedures, pregnant or breastfeeding women, and those with other medical conditions that might interfere with the study are excluded.

Study focus: The trial monitors long-term safety through regular check-ups including physical examinations, blood and urine tests, liver function assessments, electrocardiograms, and dermatological evaluations. The study tracks treatment-emergent adverse events and any serious health concerns that arise during participation.

Investigational drug: Dersimelagon (MT-7117) is administered orally as a tablet and works by modulating proteins involved in heme production, thereby reducing the accumulation of toxic substances that cause symptoms.

Study of bitopertin to improve sunlight tolerance in adults with erythropoietic protoporphyria or X-linked protoporphyria

This six-month study tests whether Bitopertin, a glycine reuptake inhibitor, can help patients with EPP or XLP tolerate more sunlight exposure without experiencing painful reactions.

Inclusion criteria: Participants must be at least 12 years old with confirmed EPP or XLP diagnosis through genetic testing or blood analysis. They must maintain at least 85% compliance with a daily sun exposure diary during screening, meet minimum weight requirements (32 kg for ages 12-17, BMI of 18.5 for adults), and have acceptable liver function tests. Participants must not have used afamelanotide or dersimelagon for at least two months before screening and must agree to use effective contraception.

Exclusion criteria: People with severe allergic reactions to medications, pregnant or breastfeeding women, those with significant liver or kidney problems, uncontrolled medical conditions, skin cancer history, current use of photosensitizing medications, substance abuse within the past year, or mental health conditions that could interfere with participation are excluded.

Study focus: The trial compares Bitopertin against placebo to measure changes in sunlight tolerance. Participants keep daily records of sun exposure and symptoms, noting when they first experience burning, tingling, itching, or stinging. Blood tests monitor protoporphyrin IX levels throughout the study.

Investigational drug: Bitopertin is an oral film-coated tablet that modulates glycine transport at the molecular level, potentially reducing protoporphyrin IX accumulation in blood and skin.

Study of Afamelanotide for Patients with Erythropoietic Protoporphyria (EPP)

This pharmacokinetic study examines how Afamelanotide, a synthetic hormone implant, is absorbed, distributed, and eliminated in the body in both adolescent and adult patients with EPP.

Inclusion criteria: Participants must have confirmed EPP diagnosis and be between 12 and 70 years of age. Adults should be 18-70 years, while adolescents should be 12-17 years. Participants must agree not to use other medications during the trial and must be able to understand and sign informed consent (with parental consent for adolescents). They must also be willing to follow study rules and requirements.

Exclusion criteria: People without confirmed EPP, those outside the specified age range, individuals unable to follow study procedures or attend required visits, pregnant or breastfeeding women, those with other interfering medical conditions or taking medications that could affect results, recent participants in other clinical trials, and those with allergies to the study medication are excluded.

Study focus: The trial evaluates the pharmacokinetic profile of afamelanotide by measuring maximum drug concentration in blood and the area under the concentration-time curve. This helps determine how the medication is processed differently in adolescents versus adults.

Investigational drug: Afamelanotide is administered as a SCENESSE 16 mg subcutaneous implant placed under the skin. It stimulates melanin production, which helps protect skin against sunlight damage.

Study on the Effects of Dersimelagon Phosphate for Adults and Adolescents with Erythropoietic Protoporphyria or X-Linked Protoporphyria

This 16-week randomized trial evaluates whether MT-7117 (Dersimelagon Phosphate) can delay symptom onset and reduce severity when patients are exposed to sunlight.

Inclusion criteria: Participants must provide written informed consent (with parental consent for minors) and have confirmed EPP or XLP diagnosis. They should be between 12 and 75 years old and willing to travel to study locations for all visits. Participants must be able to understand study risks and agree to maximize direct sunlight exposure as much as possible. Female participants must have negative pregnancy tests and not be breastfeeding. Both males and females of reproductive potential must use two effective contraception methods.

Exclusion criteria: Individuals without EPP or XLP diagnosis, those outside the age range, people unable to follow study procedures, those with other interfering medical conditions, current or recent participants in other trials, pregnant or breastfeeding women, and those with allergies to the study medication or similar medications are excluded.

Study focus: The primary endpoint measures change in average daily sunlight exposure time until first prodromal symptoms appear (burning, tingling, itching, or stinging). Secondary endpoints include Patient Global Impression of Change and total number of sunlight-induced pain events and phototoxic reactions. Participants keep daily records of sun exposure and symptoms.

Investigational drug: MT-7117 is an oral tablet that modulates specific pathways to reduce skin sensitivity to sunlight. It is classified as a treatment for photosensitivity disorders.

Summary

The four ongoing clinical trials for porphyria non-acute focus exclusively on treating EPP and XLP, two rare genetic conditions causing severe sunlight sensitivity. Three different investigational medications are being studied: Dersimelagon (tested in two trials with different objectives), Bitopertin, and Afamelanotide.

Geographically, the trials show strong representation across Western and Central Europe, with the Netherlands hosting all four studies. Italy, France, and Spain each host three trials, while Belgium, Germany, Norway, and Sweden participate in two studies each. Eastern European countries including Bulgaria, Czechia, and Poland also contribute to the research effort.

The studies employ different approaches: two trials focus on long-term safety and tolerability, one examines effectiveness in improving sunlight tolerance, and one investigates how the medication behaves in the body. All trials include both adults and adolescents, recognizing that these conditions typically begin in childhood. The research aims to provide patients with more options to manage their symptoms and improve quality of life by enabling safer sun exposure.

Ongoing Clinical Trials on Porphyria non-acute

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