Rare Disease

**Who might be able to join this trial:** - The child has obesity caused by a specific genetic condition — either a confirmed change in the POMC, PCSK1, or LEPR gene, or a confirmed diagnosis of Bardet-Biedl Syndrome (BBS), shown through g...

Who might be able to join this trial: - You have been diagnosed with a primary (original) cancer or have developed a second cancer. - Your cancer diagnosis falls under specific classification codes used in a standard international cancer co...

**Who might be able to join this trial:** - You and your partner are either planning to become pregnant or are in very early pregnancy (less than 10 weeks along at the time of joining, and less than 11 weeks when your sample reaches the lab...

**Who might be able to join this trial:** - You are 18 years of age or older - You have a narrowing or abnormality in the lower part of your voice box/upper windpipe (an area called the subglottis) **Who may not be able to join:** - You ar...

Who might be able to join this trial: - You are 18 years of age or older - You have been officially diagnosed with Fabry disease - You have one or more of the following symptoms: cloudy patches on the surface of the eye (cornea verticillata...

**Who might be able to join this trial:** - You are willing and able to attend scheduled visits, follow the treatment plan, and complete required tests - You have been diagnosed with one of the following cancer types (confirmed by a tissue...

Who might be able to join this trial: - You have a serious skin or skin tissue infection that is thought or confirmed to be caused by a type of bacteria called gram-positive bacteria. - You are 18 years old or older, and your body weight is...

**Who might be able to join this trial:** - Your blood tests have shown very low levels of infection-fighting white blood cells (called neutrophils) on at least three separate occasions over the past three months. - If cyclic neutropenia i...

**Who might be able to join this trial:** - You have been diagnosed with Fabry Disease confirmed by a genetic test - Both males and females can join - You are at least 9 years old **Who may not be able to join:** - You have a medical reaso...

**Who might be able to join this trial:** - You have been diagnosed with a type of blood disorder called thalassemia intermedia, with a hemoglobin level of 10 g/dL or lower - You have two specific gene changes (mutations) related to beta th...

Who might be able to join this trial: - You have been diagnosed with myelodysplastic syndrome (MDS), a condition affecting blood cell production in the bone marrow, confirmed through laboratory testing of cells. - You have symptoms or test...

**Who might be able to join this trial:** - You have been diagnosed with Pearson Syndrome, confirmed by a genetic test showing a problem in your mitochondrial DNA (the DNA found in the energy-producing parts of your cells). - Your mother's...

**Who might be able to join this trial:** - You have been officially diagnosed with cystinosis. - Your liver function test results have been stable (not significantly raised) in the 6 months before the screening appointment. - Your kidney...

**Who might be able to join this trial:** - Your newborn has high levels of bilirubin (a yellow pigment in the blood) in their blood - The high bilirubin is caused by a blood type mismatch between mother and baby (ABO hemolytic disease), co...

Who might be able to join this trial: - You have been diagnosed with Obsessive Compulsive Disorder (OCD) or Tourette Syndrome, confirmed using standard medical diagnostic guidelines (DSM-IV criteria) Who may not be able to join: - There ar...

**Who might be able to join this trial:** - You are either a person with Duchenne Muscular Dystrophy (DMD) who is 11 years old or older, OR a parent or legal guardian of a child under 18 who has DMD - You have an official written diagnosis...

Who might be able to join this trial: - You have been diagnosed with a significant sickle cell condition, including Hemoglobin SS, Hemoglobin S-beta thalassemia, or a related hemoglobin variant - You are between 16 and 60 years old - You ha...

Who might be able to join this trial: - You have had an eye examination at one of the hospitals working with this trial, and your eye health information was recorded there. Who may not be able to join: - No specific exclusion criteria have...

**Who might be able to join this trial:** - The baby is currently admitted to a Neonatal Intensive Care Unit (NICU) or Intensive Care Unit (ICU) at a participating hospital, and is between 0 and 120 days old at the time of joining the stud...

**Who might be able to join this trial:** - You have been diagnosed with one of the following conditions: behavioral variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), semantic variant PPA, nonfluent variant PPA, f...

Who might be able to join this trial: - You have been diagnosed with Adrenoleukodystrophy (ALD) based on medical history, brain scans (MRI), and blood or urine tests - You are showing signs that the brain-affecting form of ALD is getting wo...

**Who might be able to join this trial:** - You have been diagnosed with Raynaud's phenomenon (a condition causing reduced blood flow to the fingers/toes) that is caused by systemic sclerosis (a connective tissue disease), confirmed using s...

**Who might be able to join this trial:** - You have been diagnosed with severe preeclampsia (a serious pregnancy complication) and are at risk of seizures - Your blood pressure is higher than 160/110 mmHg, or your average arterial blood pr...

**Who might be able to join this trial:** - You have been diagnosed with a mild, symptom-free form of overactive parathyroid glands (confirmed by tissue testing) - Your blood calcium levels have been slightly elevated (in a specific range)...

Who might be able to join this trial: - You are generally healthy - You can be male or female - You are between 18 and 65 years old - You have occasional sleep problems on average 1 to 2 nights per week, with a sleep quality score above 5 o...

**Who might be able to join this trial:** - You have been diagnosed with one of these types of acute porphyria: Acute Intermittent Porphyria, Hereditary Coproporphyria, or Variegate Porphyria - Your porphyria attacks happen in a clear cycle...

**Who might be able to join this trial:** - You have been diagnosed with stage I, II, or III avascular necrosis (a condition where bone tissue dies due to lack of blood supply) in the hip, confirmed by an MRI or X-ray - Your avascular necro...

Who might be able to join this trial: - Your condition does not yet have a clear genetic explanation identified - There is reason to believe your condition may be caused by a genetic (inherited) factor - Healthy parents of an affected perso...

**Who might be able to join this trial:** *For families affected by a rare disease:* - Your family includes at least one child aged 0 to 17 years who has been diagnosed with a rare solid tumour in the abdomen - You and your child agree to...

**Who might be able to join this trial:** - You have been diagnosed with a condition called "absorptive hypercalciuria," meaning your intestines absorb too much calcium from food - Tests show your body releases an unusually high amount of...

**Who might be able to join this trial:** - You have been diagnosed with primary biliary cirrhosis (a liver condition), with symptoms lasting at least 6 months before joining the study - A liver biopsy taken within the last 6 months is con...

**Who might be able to join this trial:** - You have a confirmed fungal infection (proven by a lab culture), specifically chronic cavitary histoplasmosis, histoplasmosis that has spread outside the lungs (such as affecting mucous membranes)...

**Who might be able to join this trial:** - **Siderosis group:** Adults aged 18 or older (male or female) who have been diagnosed with a condition called idiopathic superficial siderosis (iSS) — a specific neurological condition — confirme...

**Who might be able to join this trial:** - You must have completed a specific visit (called "MPV3") in the earlier related study called BIA-51058-201. - You must be able to understand and be willing to sign a consent form agreeing to take...

**Who might be able to join this trial:** - You have received a liver or kidney transplant (placed in the normal position in the body) and started taking a medication called mycophenolate mofetil (as part of your anti-rejection medication p...

Who might be able to join this trial: - You are currently staying in an Intensive Care Unit (ICU) in a hospital. - You have been diagnosed with an infection that was caught as a result of receiving medical care (sometimes called a hospital-...

Who might be able to join this trial: - You have been diagnosed with Werner's syndrome (a rare genetic condition that causes premature aging) - You have osteoporosis (weak or thinning bones) as part of your condition - You have a low level...

Who might be able to join this trial: - You are fluent in English, both reading and speaking - You are already enrolled in the Remote Hypertension Program - Your blood pressure readings have been above 140/90 on average across your last 3 c...

**Who might be able to join this trial:** - You are attending a medical genetics, jaw surgery, or craniofacial (skull and face) surgery appointment as part of care for a rare disease (in France, a condition affecting fewer than 30,000 peop...

**Who might be able to join this trial:** - You have been diagnosed with Chronic Immune Thrombocytopenic Purpura (a condition where the immune system attacks platelets), Autoimmune Hemolytic Anemia (a condition where the immune system attac...

Who might be able to join this trial: - The person being reported on must be at least 1 month old - The person filling out the report must have access to the internet and be able to read and answer questions in English or Spanish Who may n...

Who might be able to join this trial: - Babies who are scheduled to have surgery and will stay in the hospital afterward - Babies who were born at 35 weeks of pregnancy or later - Babies in Part I of the study who are less than 12 months ol...

**Who might be able to join this trial:** - Children aged 7 to 16 who are suspected or confirmed to have a problem with the glands that control growth and puberty (the hypothalamus, pituitary gland, or reproductive glands) - Children with...

Who might be able to join this trial: **For patients:** - You are between 8 and 19 years old. - You have been diagnosed with a rare disease. - You are able to communicate in Chinese. **For parents:** - You are the mother or father of a ch...

**Who might be able to join this trial:** - You are a healthy male, or a healthy female who cannot become pregnant (either due to surgical sterilisation such as a hysterectomy or tubal ligation, or because you have gone through menopause)....

Who might be able to join this trial: - Children (boys or girls) between the ages of 2 and 14 who have infrequent, occasional episodes of asthma. Who may not be able to join: - No specific exclusion criteria were listed in the provided inf...

**Who might be able to join this trial:** - You have a brain tumor that has been confirmed by a tissue sample (biopsy) and it has come back or stopped responding to treatment — specific types include glioblastoma multiforme, anaplastic astr...

Who might be able to join this trial: - You have been diagnosed with a condition called Tuberous Sclerosis Complex (TSC), confirmed using specific medical guidelines from 2012 - You are 6 years old or older - You are able to walk at least 6...

**Who might be able to join this trial:** - You are a woman aged 18 or older - You have not yet gone through menopause (this applies only to a specific subgroup within the trial related to contraception use) - You have been diagnosed with o...

**Who might be able to join this trial:** - You have been diagnosed with acute intermittent porphyria, variegate porphyria, or hereditary coproporphyria - Your condition causes 6 or more attacks (flare-ups) per year - If you are already rec...

Who might be able to join this trial: - You have been diagnosed with schizophrenia or schizoaffective disorder, confirmed through a structured clinical interview. - You hear voices (spoken speech) at least 5 times per day and can make out w...

Who might be able to join this trial: - You have been diagnosed with a condition called retinitis pigmentosa (an eye disease that causes gradual vision loss) - Your retinitis pigmentosa has been confirmed to be passed down through families...

**Who might be able to join this trial:** - You are 18 years of age or older - You have been diagnosed with primary central nervous system lymphoma (a type of cancer affecting the brain or spinal cord) that has come back or stopped respondi...

**Who might be able to join this trial:** - Newborns being enrolled at their first vaccine clinic visit - Baby girls who weigh between 3.2 and 3.8 kg at their first vaccination - Baby boys who weigh between 3.4 and 4.0 kg at their first vac...

**Who might be able to join this trial:** - You have been diagnosed with hypokalemic periodic paralysis (a condition where low potassium causes episodes of muscle weakness), with typical symptoms and normal thyroid hormone levels - You or a...

**Who might be able to join this trial:** - You are between 18 and 70 years old - You have been diagnosed with sudden (acute) liver failure, meaning your liver stopped working properly within the last 26 weeks and you have no history of lo...

**Who might be able to join this trial:** - You are at least 6 years old (children and adults are both welcome) - You have been diagnosed with a rare disease and are being cared for at the Necker Enfants Malades Hospital in Paris - Your rar...

**Who might be able to join this trial:** - You are a child or teenager older than 18 months and younger than 18 years old at the time of surgery - Your bones are still growing (you have not reached full skeletal maturity) - You have been d...

**Who might be able to join this trial:** - You have been diagnosed with hereditary angioedema (HAE), confirmed through specific blood tests (C4 and C1 inhibitor levels) and/or a family history of the condition - You have Type I or Type II...

Who might be able to join this trial: - You have been diagnosed with neurofibromatosis type 2 (a condition that causes tumors to grow on nerves related to hearing and balance) - You are scheduled to have a tumor removed (either your first t...

Who might be able to join this trial: - You must be older than 2 years of age. - You must already be enrolled in and receiving treatment under a Chronic Granulomatous Disease (CGD) program at the NIAID (a government health research institut...

**Who might be able to join this trial:** - You must have already completed the full 12-month main study (NCT00171171). - Female patients who have had their first period and are sexually active must be using an effective form of birth contr...

"Who might be able to join this trial: - You have been diagnosed with recessive dystrophic epidermolysis bullosa (RDEB), either the Hallopeau-Siemens type or the non-Hallopeau-Siemens type - You are already enrolled in the National Epidermo...

Who might be able to join this trial: - You are between 18 and 60 years old and weigh between 55 kg (about 121 lbs) and 100 kg (about 220 lbs) - You are willing and able to sign a written consent form agreeing to take part - If you are a wo...

**Who might be able to join this trial:** - You have been diagnosed with homozygous familial hypercholesterolemia (a rare inherited condition causing very high cholesterol) - Your LDL ("bad") cholesterol level is above 500 mg/dL - The cond...

**Who might be able to join this trial:** - You are being admitted to the hospital because of a sickle cell crisis - Your current crisis started at least 12 hours before you were admitted to the hospital - Your medical records showing your...

Who might be able to join this trial: - People who are known to have, or are suspected of having, a genetic condition called congenital nephrogenic diabetes insipidus (a rare inherited disorder where the kidneys cannot properly respond to a...

Who might be able to join this trial: - You (or your legal guardian) must be willing and able to sign a consent form before taking part in any study activities. - You must have a confirmed diagnosis of Alpha Mannosidosis, with visible signs...

Who might be able to join this trial: - You must have already completed the full 12-month main part of this study. - Female patients who have started their periods and are sexually active must be using two forms of contraception (such as tw...

Who might be able to join this trial: - Primary care doctors who are fully qualified and certified in their field, regardless of how many years they have been practicing. - Cases involving clear, high-quality photos of patients who have var...

**Who might be able to join this trial:** - (Group 1) People who are currently on regular, long-term dialysis (hemodialysis) - (Group 2) People who have recently received a kidney transplant from a deceased donor and are at high risk of su...

**Who might be able to join this trial:** - Your lung cancer tumor has been tested in a certified lab and found to have one of these specific genetic changes: EGFR exon 18 G719X, exon 20 S768I, or exon 21 L861Q (having more than one mutati...

Here is the eligibility information for trial NCT00006063 in plain language: **Who might be able to join this trial:** - You have been diagnosed with cystic fibrosis, confirmed by two sweat test results showing elevated salt levels - You h...

"Who might be able to join this trial: - You have low blood pressure when standing up (called orthostatic hypotension), meaning your systolic blood pressure drops by at least 20 points and your diastolic blood pressure drops by at least 15...

**Who might be able to join this trial:** - You have been diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT), a condition affecting blood vessels, AND have at least 2 of the following: a close family member (parent, sibling, or chil...

**Who might be able to join this trial:** - You have cystic fibrosis and liver disease, shown by at least one of the following: liver enzyme levels that were significantly higher than normal at least once in the past year; a noticeably enla...

Who might be able to join this trial: - Premature babies born before 33 weeks of pregnancy who need a breathing machine (ventilator) to help them breathe - Babies born at or after 33 weeks of pregnancy who have severe breathing problems, ne...

Who might be able to join this trial: - Newborns weighing less than 1,000 grams (about 2.2 pounds) at birth AND born at 28 weeks of pregnancy or earlier, who need more than half of their nutrition given through a vein within the first 7 day...

**Who might be able to join this trial:** - You are between 16 and 75 years old (inclusive) - Your background reflects the mix of people who live in the local area - You are able to understand the trial information and give your own consent...

**Who might be able to join this trial:** - You have been diagnosed with cystinosis, confirmed either by a lab test showing high levels of cystine in white blood cells, or by a doctor finding crystals in the front of your eye (cornea) usin...

"Who might be able to join this trial: - You must be able to understand and agree to participate by signing a consent form - People who have diabetic retinopathy (eye damage caused by diabetes) or age-related macular degeneration (a conditi...

Who might be able to join this trial: - You have been diagnosed with a well-documented case of porphyria cutanea tarda (PCT), either the sporadic type (Type I) or the familial type (Type II) - Your blood tests show higher than normal levels...

**Who might be able to join this trial:** - You have been diagnosed with MPS 7 (Mucopolysaccharidosis type 7), confirmed through a blood, skin cell, or genetic test. - Your urine test shows a certain waste product (called glycosaminoglycan...

**Who might be able to join this trial:** - You are the parent of a child who is between 12 and 36 months old and had surgery as a newborn for one of the following conditions: oesophageal atresia (a problem with the food pipe), congenital d...

**Who might be able to join this trial:** - You have been diagnosed with achalasia (a condition affecting swallowing) confirmed by specific tests measuring muscle activity in the esophagus and a camera examination of the throat/stomach - Yo...

**Who might be able to join this trial:** - You have been diagnosed with systemic lupus erythematosus (lupus) based on recognised medical guidelines - Your lupus is considered mild to moderate in severity - You are taking prednisone (or a s...

Who might be able to join this trial: - You have been diagnosed with adult respiratory distress syndrome (ARDS) along with sepsis (a serious body-wide response to infection). - Your ARDS involves low oxygen levels that do not improve with e...

Who might be able to join this trial: - You have been diagnosed with acute intermittent porphyria (a rare genetic condition affecting the body's ability to produce a substance called heme) and your condition has been in remission for at lea...

"Who might be able to join this trial: - You have been diagnosed with Wilson disease and are experiencing neurological symptoms (such as movement or coordination problems) or psychiatric symptoms (such as mood or behavioral changes) - You h...

**Who might be able to join this trial:** - You have been diagnosed with Dupuytren's disease that has left one or more fingers bent/curled and unable to straighten by at least 20–30 degrees - A doctor can feel a tight cord-like band under...

**Who might be able to join this trial:** - You are between 0 and 85 years old and have a diagnosis (confirmed or suspected) of Williams Syndrome (WS), including typical or unusual forms diagnosed by a knowledgeable doctor - You are betwee...

**Who might be able to join this trial:** - You must be willing and able to give electronic consent for your medical information to be shared with the study organizers. - You must have been diagnosed with one of the following conditions: G...

**Who might be able to join this trial:** - (Phase 1 – Data Review): Anyone whose medical records are held within one of the participating healthcare systems may be included in this first stage. - (Phase 2 – Identifying Candidates): People...

Who might be able to join this trial: - You must be a patient who has a biological sample (such as tissue or blood) stored in a biobank that is part of the CRB IOR collection. - You must have been diagnosed with one of the following conditi...

**Who might be able to join this trial:** - You have been diagnosed with pulmonary arterial hypertension (a condition affecting blood pressure in the lungs) - Your condition has been stable for at least 3 months - Your condition falls into...

Who might be able to join this trial: - You must be 18 years old or older - You must have a spinal cord injury in the neck area and depend on a machine to help you breathe - Your condition must be medically stable after the spinal cord inju...

**Who might be able to join this trial:** - You have been diagnosed with XLH (X-linked hypophosphatemia), confirmed either by a family history where no father passed it to a son, or by a genetic test showing a PHEX gene mutation - Your para...

**Who might be able to join this trial:** - You have been diagnosed with nonbullous congenital ichthyosiform erythroderma (NBCIE), a skin condition present from birth that causes widespread redness, scaling, and thickening of the skin acro...

Who might be able to join this trial: - You have been diagnosed with one of these cancers (confirmed by a tissue test): neuroblastoma, rhabdomyosarcoma, Wilms tumor, retinoblastoma, adrenocortical carcinoma, or carcinoid tumor - Your cancer...

Who might be able to join this trial: - You have been diagnosed with Multiple Osteochondromas (a condition where multiple bony growths form near the joints), either through medical examination or genetic testing - You have been diagnosed wi...

**Who might be able to join this trial:** - You have been diagnosed with diffuse systemic sclerosis (a serious form of scleroderma that affects the whole body) - Your disease is getting worse, with a skin score of at least 16 (a measure of...

Who might be able to join this trial: - You must already be enrolled in a separate study called the Longitudinal Study of the Porphyrias and have a diagnosis of EPP (Erythropoietic Protoporphyria). - You, or your parent or guardian if you a...

Who might be able to join this trial: - You have been diagnosed with nasopharyngeal cancer (cancer at the back of the nose/throat) that is advanced, has spread, or has come back, and you are already scheduled to have an FDG PET scan as part...

Who might be able to join this trial: - You have been diagnosed (at some point in your life) with at least one of the following: Tourette syndrome, obsessive compulsive disorder (OCD), or chronic tics - Teenagers who are severely affected b...

Who might be able to join this trial: - You have a moderate to profound intellectual disability or developmental delay - You have a mild to moderate intellectual disability or developmental delay, AND more than one family member is affected...

**Who might be able to join this trial:** - You have been diagnosed with Angelman syndrome through genetic/molecular testing. **Who may not be able to join:** - You do not meet the accepted diagnostic criteria for Angelman syndrome. - You...

Who might be able to join this trial: - You have been diagnosed with a kidney condition called IgA glomerulonephritis, which is a type of kidney disease caused by a build-up of a protein (IgA) in the kidneys Who may not be able to join: -...

**Who might be able to join this trial:** - You have been diagnosed with facioscapulohumeral muscular dystrophy (a specific type of muscle disease affecting the face, shoulders, and limbs) - You have weakness in the muscles of your face, su...

Who might be able to join this trial: - You have been diagnosed with severe aplastic anemia along with typical signs of Fanconi's anemia, such as being shorter than average, underdeveloped bones in the forearms, unusual skin coloring, kidne...

**Who might be able to join this trial:** *For the main group (people whose CMV did not respond to treatment):* - You are 18 years old or older - You received a kidney transplant on or after June 2016 - You had a CMV infection (virus in th...

**Who might be able to join this trial:** - You are between 18 and 80 years old - You have a confirmed diagnosis of Alpha-1 Antitrypsin Deficiency (AATD) with a specific genetic type known to cause low or poorly functioning AAT protein (su...

**Who might be able to join this trial:** - You are a child or adult who has been identified as having developmental or neurological difficulties, and doctors strongly suspect you have a rare genetic condition (either running in the family...

Who might be able to join this trial: - The patient must have cystic fibrosis and not yet have gone through puberty - The patient must be able to perform breathing tests (lung function tests) - The patient must be significantly below the no...

**Who might be able to join this trial:** - You must be over 18 years old - You must have been diagnosed with a specific type of ovarian tumour (affecting the cells that produce eggs or hormones), confirmed by a tissue sample test - You may...

**Who might be able to join this trial:** - You have been diagnosed with severe aplastic anemia (a condition where the bone marrow stops making enough blood cells) - Your bone marrow biopsy shows very low activity, with less than 20% of no...

Who might be able to join this trial: - Your child must be registered in the Rare Diseases Clinical Research Network (RDCRN) registry for Angelman syndrome (AS), Rett syndrome (RTT), or Prader-Willi syndrome (PWS) (confirm with trial site)....

**Who might be able to join this trial:** - You have been diagnosed with systemic lupus erythematosus (lupus) based on recognised medical criteria - Your lupus is considered mild to moderate - You are currently taking prednisone (or a simi...

**Who might be able to join this trial:** - You are 18 years of age or older - You have a clear history of episodes where your heart suddenly starts beating very fast, with a clear start and stop, and these may come with shortness of breath...

**Who might be able to join this trial:** - You have been diagnosed with acute intermittent porphyria, variegate porphyria, or hereditary coproporphyria - Your symptoms are recent and have not been present for longer than 2 weeks - It has b...

**Who might be able to join this trial:** - You have signed a consent form agreeing to take part in the study. - You have been diagnosed (confirmed by tissue testing) with one of the specific rare cancers covered by this trial, which inclu...

**Who might be able to join this trial:** - You have been diagnosed with a condition called chronic inflammatory demyelinating polyneuropathy (CIDP), which is a nerve disease that causes inflammation and damage to the protective covering ar...

**Who might be able to join this trial:** - You have been diagnosed with Tourette syndrome or another long-term tic disorder, based on standard medical guidelines (DSM-IV) - You have also been diagnosed with Attention Deficit Hyperactivity...

Who might be able to join this trial: - You have a complex condition where certain skin cells show too much activity of a specific enzyme called 5'-nucleotidase (confirm with trial site) - You experience repeated or frequent infections - Yo...