Ectodermal dysplasia syndrome

This phase 3 trial tests whether the drug bimekizumab can clear or nearly clear the pustules and skin lesions of palmoplantar pustulosis (PPP) on the hands and feet. About 320 adults with moderate to severe PPP will receive either bimekizumab or a placebo for 16 weeks, with an op…

This early-stage trial is testing whether a combination of two natural substances, deoxycytidine and deoxythymidine, is safe for people with telomere biology disorders. These rare genetic conditions cause premature aging, bone marrow failure, and lung scarring. Up to 36 participa…

This expanded access program offers a special stem cell purification technique (CD34+ selection) for patients undergoing stem cell transplants. The method removes many T-cells from the donated stem cells, which lowers the risk of a serious complication called graft-versus-host di…

This phase 2 trial tests a special stem cell transplant for people with inherited bone marrow failure disorders like Fanconi anemia. The transplant uses a technique to remove certain immune cells, aiming to reduce the need for long-term immune-suppressing drugs and lower infectio…

This study tests whether a hyaluronic acid gel can help regrow bone lost to severe gum disease, compared to the standard enamel matrix derivative gel or no gel at all. All treatments use a minimally invasive, non-surgical technique. Sixty adults with advanced periodontitis will b…

This study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This phase 2 trial is testing a stem cell transplant using a milder chemotherapy regimen to treat people with severe immune deficiencies and inherited bone marrow failure. The goal is to see if donor cells can safely take over and rebuild a healthy immune system. Up to 27 partici…

This study is testing a software tool called Belle.ai that uses artificial intelligence to help doctors diagnose common skin diseases. About 400 patients at dermatology clinics will have three photos taken of their skin condition. The AI will analyze the photos and suggest possib…

This pilot study tests whether quercetin, a natural antioxidant found in many plants, is safe for people with Dyskeratosis congenita or telomere biology disorders. Twelve participants will take quercetin for 24 weeks while researchers monitor side effects and how well people stic…

This study compares a newer painkiller called oliceridine with two standard drugs, morphine and sufentanil, for pain relief after lumbar spine surgery. Ninety adults will receive one of the three drugs through a patient-controlled pump. The main goal is to see how well each drug …

This study looks at whether 3D-printed dentures fit better and make patients happier than traditional acrylic dentures in people with ectodermal dysplasia, a rare condition that affects teeth and other body parts. About 11 people aged 10 to 35 who have some remaining teeth will t…

This study tests whether Acceptance and Commitment Therapy (ACT), delivered through a smartphone app, can help caregivers of children with RASopathies (like Neurofibromatosis type 1 and Noonan syndrome) cope with parenting stress. The trial is fully remote and involves 70 adult c…

This study tests a group counseling program called Healing HEARTS to help people with conditions like obesity, skin disease, cancer, HIV, diabetes, or chronic pain deal with internalized stigma. Participants will either join the counseling program or a peer support group. The goa…

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 aims to learn more about RASopathies, a group of genetic conditions that can cause developmental issues, birth defects, and increased cancer risk. Researchers will follow up to 500 people of any age who have or may have a RASopathy, along with their family members, for…

This natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…

This study collects blood, bone marrow, and other samples along with health information from up to 1,716 people with non-cancerous blood diseases and their family members. Researchers will analyze the participants' genes to find new genetic causes of these conditions and understa…

This study collects biological samples—like blood, skin biopsies, and swabs—from people with or at risk for skin diseases, as well as healthy volunteers. Researchers will use these samples to study the causes of skin conditions and explore potential treatments. Up to 700 particip…

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 is building a large database of health information from 5,000 people with ALS and other motor neuron diseases. Participants share details like symptoms, test results, and disease progression during regular clinic visits. The de-identified data is then shared with resea…

This study aims to find the genes and genetic changes that cause aplasia cutis congenita (ACC), a rare condition where babies are born with missing patches of skin. Researchers will analyze DNA from 600 people with ACC and their family members. The goal is to better understand th…

This study tests a digital dashboard tool to help community workers deliver a family-based mental health program called Sugira Muryango in Rwanda. The goal is to see if the technology improves how well the program is delivered, including fidelity and worker confidence. Over 1,800…

This observational study looks at gum tissue from people with aggressive or chronic periodontitis and healthy gums. Researchers use advanced genetic tools to map cell types and signals that make aggressive disease different. Only small tissue and blood samples are taken during pl…

This study aims to understand the full burden of 9 rare skin diseases—including physical, emotional, social, and financial challenges—on patients and their families. Researchers will use special questionnaires to track how these conditions affect daily life and care needs. About …

This study is collecting blood, tissue, and medical information from up to 1,000 people with RASopathies—a group of genetic conditions that affect development and raise cancer risk. Researchers will store these samples and data in a database for future studies. The goal is to lea…

This study looks at how skin conditions related to cancer or cancer treatments affect the well-being of cancer patients and survivors. About 1,025 participants will fill out questionnaires about their skin condition. The goal is to better understand these effects and improve trea…

This study examines how B cells, a type of immune cell, behave in the blood and gums of people with periodontitis (gum disease). Researchers want to see if certain B cell patterns are linked to more aggressive disease and how they change after surgery. The goal is to improve diag…