Porphyria study tracking patients for long-term research
Part of Digestive system, Genetic & congenital, Hormones & metabolism, Skin clinical trials.
This study follows people with porphyria over time to learn more about the disease, its symptoms, and how it affects daily life. By tracking patients, researchers hope to improve care and understanding of this rare group of conditions.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must have a confirmed diagnosis of a type of porphyria, proven by lab tests or genetic testing done after 1980.
- If the lab results are borderline, a special reference lab may need to verify them.
- You must be willing to give written consent (or assent, if you are a child and your parent or guardian agrees).
- Relatives without symptoms can join if they have lab or genetic proof of porphyria or carry a related gene change.
- People whose abnormal test results come from other conditions (like liver or bone marrow disease) cannot join.
- Prior porphyria diagnoses must be verifiable through medical records or repeat testing.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This study is a registry (a list) of people diagnosed with acute hepatic porphyria. It helps researchers learn about the condition and track health information over time; it doesn’t test a new drug in the way treatment trials do.
This study follows children with Pelizaeus-Merzbacher disease (PMD) who have a specific genetic change (PLP1 duplication). It aims to learn which body measurements (“biomarkers”) and symptoms change over time, to better understand disease progression.
This study tracks how your body reacts to sunlight if you have erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP)—rare genetic conditions that cause painful skin reactions to sun exposure. Researchers will use special devices and daily logs to better understand your symptoms and how light affects your skin.
This study aims to find genes that may affect acute intermittent porphyria (AIP), a rare genetic condition that can cause sudden, severe attacks. By studying blood, saliva, and urine from family members, researchers hope to better understand and possibly improve treatment for this condition.
This study follows people who already have hypophosphatasia (HPP) to better understand how the condition changes over time. It may help doctors recognize patterns and improve care, even if you are not receiving a new treatment.
This study aims to learn more about rare disorders of purine and pyrimidine metabolism (DPPM), which can affect the brain, immune system, kidneys, and muscles. Researchers will study people with these disorders, their family members, and healthy volunteers to better understand the condition over time.
Hear when a new Acute Porphyrias trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.