Hereditary photodermatosis

This study tests a new gene therapy for children with a severe immune disorder called Artemis-SCID, where the body cannot fight infections. Doctors take the child's own blood stem cells, fix the faulty gene in a lab, and put the corrected cells back. The goal is to rebuild a work…

Researchers are testing an oral drug called PORT-77 in people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), rare conditions that cause severe pain after sunlight exposure. The trial enrolls about 225 adults and adolescents aged 12 and older. It compa…

This expanded access program provides bitopertin (DISC-1459) to patients aged 12 and older with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) who have no satisfactory treatment options in the US. The goal is to offer access and gather safety information. Pa…

This study is testing whether eating a diet rich in carbohydrates (60-65% of daily calories) can help people with acute intermittent porphyria (AIP), a rare genetic disorder that causes severe attacks of pain and other symptoms. Fifty adults with AIP will try two different diet p…

This early-phase trial tests an oral drug called ATL-001 (ciclopirox) in 6 adults with congenital erythropoietic porphyria (CEP), a rare condition that causes severe skin damage from sunlight. The study measures whether the drug reduces skin lesions, fatigue, and other symptoms o…

Acute intermittent porphyria (AIP) is an inherited disorder that can cause sudden, severe attacks, but not everyone who carries the gene gets sick. Researchers at Mount Sinai are collecting blood, saliva, and urine samples from about 150 people in AIP families, including affected…

This study is a global registry that will follow about 150 people with acute hepatic porphyria (AHP) over time. Researchers will collect information on how the disease progresses, how it is managed in real-world settings, and the safety and effectiveness of approved treatments li…

This study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

This study is for people with rare DNA repair disorders like Cockayne syndrome, xeroderma pigmentosum, or trichothiodystrophy. Researchers will watch how symptoms like movement and balance change over time. No treatments are given—the goal is to better understand these conditions…

This study follows 1,500 people with porphyria over many years to learn how the disease progresses, what symptoms appear, and how it affects pregnancy and lifespan. Researchers will collect medical records and lab results to create a clearer picture of the condition. No new treat…

This observational study is gathering information on how erythropoietic protoporphyria (EPP) and X-linked porphyria (XLP) affect people aged 12 and older. Over 6 months, researchers will track symptoms, light exposure, and blood levels of protoporphyrin IX (PPIX) in 50 participan…

This study looks at how high-frequency 5G waves (27.5 GHz) affect the skin. Researchers will expose healthy volunteers and people with certain skin conditions to these waves and analyze skin cell changes using advanced techniques. The goal is to understand any biological effects,…