[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"recurrent-respiratory-papillomatosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:recurrent-respiratory-papillomatosis":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,44,66,98,120],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":29,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":43},"100412057","phase-2-merck-iit-rrp-pembro-and-lenvatinib-100412057",false,"NCT04645602","Merck IIT: RRP Pembro and Lenvatinib","A Pilot Study of Lenvatinib in Combination With Pembrolizumab in HPV-associated Recurrent Respiratory Papillomatosis Patients","Inclusion Criteria:\n\n\\- Participants must have histologically or cytologically confirmed respiratory papillomas with radiologic evidence of lung involvement. Subjects can have measurable or non-measurable\\* pulmonary disease based on RECIST 1.1. Non-measurable disease based on RECIST 1.1 is defined as lesions with a short axis less than 10 mm\n\n* For those patients with non-measurable pulmonary disease, participants must have disease at other sites such as the larynx and trachea and must have undergone \\> 3 surgical procedures over a 12-month period.\n* Be required to provide tissue from a newly obtained biopsy of a lesion or an archived specimen. Newly-obtained is defined as a specimen obtained up to 6 weeks (42 days) prior to the first dose of study drug. Subjects for whom newly obtained samples cannot be provided (e.g. inaccessible or subject safety concern) may submit an archived specimen only upon agreement from the PI.\n* Have confirmed human papillomavirus-associated lesions based on in-situ hybridization testing and\u002For polymerase chain reaction which may be performed on a newly obtained biopsy or archived sample.\n* Age ≥18 years.\n* ECOG performance status of 0 to 1.\n* Participants must have adequate organ and marrow function as defined below:\n\n  \\---- Absolute neutrophil count (ANC) ≥1500\u002FμL\n\n  \\---- Platelets ≥100 000\u002FμL\n\n  \\---- Hemoglobin ≥9.0 g\u002FdL or ≥5.6 mmol\u002FL (a)\n  * Creatinine OR Measured or calculated (b) creatinine clearance (GFR can also be used in place of creatinine or CrCl) ≤1.5 × institutional ULN OR ≥30 mL\u002Fmin for participant with creatinine levels \\>1.5 × institutional ULN\n  * Total bilirubin ≤1.5 × institutional ULN OR direct bilirubin ≤ institutional ULN for participants with total bilirubin levels greater than or equal to 1.5× institutional ULN\n  * AST (SGOT) and ALT (SGPT) ≤2.5 × ULN (≤5 × institutional ULN for participants with liver metastases)\n  * TSH Institutional normal limit\n  * Free T4 Institutional normal limit\n  * Amylase less than or equal to 1.5 x institutional ULN\n  * Lipase less than or equal to 1.5 x institutional ULN\n  * International normalized ratio (INR) OR prothrombin time (PT)\n  * Activated partial thromboplastin time (aPTT)\n\n    * 1.5 × institutional ULN unless participant is receiving anticoagulant therapy as long as PT or aPTT is within therapeutic range of intended use of anticoagulants\n  * ALT (SGPT)=alanine aminotransferase (serum glutamic pyruvic transaminase); AST (SGOT)=aspartate aminotransferase (serum glutamic oxaloacetic transaminase); GFR=glomerular filtration rate; ULN=upper limit of normal.\n\n    1. Criteria must be met without erythropoietin dependency and without packed red blood cell (pRBC)transfusion within last 2 weeks.\n    2. Creatinine clearance (CrCl) should be calculated per institutional standard. -- Note: This table includes eligibility-defining laboratory value requirements for treatment; laboratory value requirements should be adapted according to local regulations and guidelines for the administration of specific chemotherapies.\n* Participants with known history or current symptoms of cardiac disease, or history of treatment with cardiotoxic agents, should have a clinical risk assessment of cardiac function using the New York Heart Association Functional Classification. To be eligible for this trial, participants should be class 2B or better.\n* Adequately controlled blood pressure with or without antihypertensive medications defined as systolic BP ≤ 140 mmHg and diastolic BP ≤ 90 mmHg at screening with no change in antihypertensive medications within 1 week prior to screening.\n* Female subject of childbearing potential must have a negative serum pregnancy test within 28 days of the first dose of study drug\\*. If the urine test is positive or cannot be confirmed as negative, a serum pregnancy test will be required.\n\n  \\*Please refer to the study calendar for requirements regarding a pregnancy test 24 hours prior to receiving any dose of study medication upon subject enrollment into the study.\n* A female participant is eligible to participate if she is not pregnant or breastfeeding, and at least one of the following conditions applies:\n\n  * Is not a WOCBP as defined below. OR\n  * Is a WOCBP and must be willing to use 2 methods of birth control, or abstain from heterosexual activity during the intervention period and for at least 120 days after the last dose of pembrolizumab or 30 days post lenvatinib, whichever occurs last.\n\nWomen of childbearing potential are those who have not been surgically sterilized or have not been free from menses for greater than 1 year. The methods of surgical sterilization include having had a hysterectomy (removal of the uterus), bilateral oophorectomy (removal of both ovaries), tubal ligation (having your tubes tied), and transvaginal occlusion (blocking the tubes with a coil). The investigator should evaluate the potential for contraceptive method failure (ie, noncompliance, recently initiated) in relationship to the first dose of study intervention - A WOCBP must have a negative highly sensitive pregnancy test (urine or serum as required by local regulations) within 24 hours before the first dose of study intervention.\n\n* If a urine test cannot be confirmed as negative (eg, an ambiguous result), a serum pregnancy test is required. In such cases, the participant must be excluded from participation if the serum pregnancy result is positive.\n* Men treated or enrolled on this protocol must also agree to use adequate contraception prior to the study, for the duration of study participation, and 4 months (or 120 days) after completion of pembrolizumab\n* Male participants are eligible to participate if they agree to the following during the intervention period and for at least 7 days after the last dose of Lenvatinib:\n\n  * Be abstinent from heterosexual intercourse as their preferred and usual lifestyle (abstinent on a long term and persistent basis) and agree to remain abstinent.\n\nOR\n\n• Must agree to use contraception unless confirmed to be azoospermic (vasectomized or secondary to medical cause) as detailed below:\n\n* Agree to use a male condom plus partner use of an additional contraceptive method when having penile-vaginal intercourse with a WOCBP who is not currently pregnant. Note: Men with a pregnant or breastfeeding partner must agree to remain abstinent from penile-vaginal intercourse or use a male condom during each episode of penile-vaginal penetration.\n* Contraceptive use by men should be consistent with local regulations regarding the methods of contraception for those participating in clinical studies. If the contraception requirements in the local label for any of the study interventions is more stringent than the requirements above, the local label requirements are to be followed\n\n  * Ability to complete Patient Medication and Blood Pressure diaries by themselves or with assistance.\n  * Ability to understand and the willingness to sign a written informed consent document.\n\nExclusion Criteria:\n\n* Has received prior systemic anti-cancer therapy including investigational agents within 4 weeks prior to study enrollment.\n\nNote: Participants must have recovered from all AEs due to previous therapies to ≤Grade 1 or baseline. Participants with ≤Grade 2 neuropathy may be eligible.\n\nNote: If participant received major surgery, they must have recovered adequately from the toxicity and\u002For complications from the intervention prior to starting study treatment. Withhold lenvatinib for at least 7 days prior to elective major surgery. Do not administer for at least 2 weeks following major surgery and until adequate wound healing. Endoscopic debridement of RRP lesions is NOT considered a major surgery.\n\n* Has received prior radiotherapy within 2 weeks of start of study treatment. Participants must have recovered from all radiation-related toxicities, not require corticosteroids, and not have had radiation pneumonitis.\n* Has had major surgery within 3 weeks prior to first dose of study interventions. Note: Adequate wound healing after major surgery must be assessed clinically, independent of time elapsed for eligibility.\n* Has received a live vaccine within 30 days prior to the first dose of study drug.\n\nExamples of live vaccines include, but are not limited to, the following: measles, mumps, rubella, varicella\u002Fzoster (chicken pox), yellow fever, rabies, Bacillus Calmette-Guérin (BCG), and typhoid vaccine. Seasonal influenza vaccines for injection are generally killed virus vaccines and are allowed; however, intranasal influenza vaccines (eg, FluMist®) are live attenuated vaccines and are not allowed.\n\n* Is currently participating in or has participated in a study of an investigational agent within 4 weeks prior to the first dose of study treatment. NOTE: Participants who have entered the follow-up phase of an investigational study may participate as long as it has been 4 weeks after the last dose of the previous investigational agent.\n* Has a diagnosis of immunodeficiency or is receiving chronic systemic steroid therapy (in dosing exceeding 10 mg daily of prednisone equivalent) or any other form of immunosuppressive therapy within 7 days prior to the first dose of study drug.\n* Has a known additional malignancy that is progressing or has required active treatment within the past 3 years. NOTE: Participants with basal cell carcinoma of the skin, squamous cell carcinoma of the skin, well-differentiated thyroid cancer, follicular lymphoma, carcinoma in situ (e.g. breast carcinoma, cervical cancer in situ) invasive cancer derived from RRP, or other indolent malignancy not requiring active treatment are not excluded.\n* History of allergic reactions (greater than or equal to Grade 3) attributed to compounds of similar chemical or biologic composition to pembrolizumab or lenvatinib and\u002For any of its excipients.\n* Has active autoimmune disease that has required systemic treatment in the past 2 years (i.e. with use of disease modifying agents, corticosteroids or immunosuppressive drugs). Replacement therapy (e.g., thyroxine, insulin, or physiologic corticosteroid replacement therapy for adrenal or pituitary insufficiency, etc.) is not considered a form of systemic treatment.\n* Has a history of (non-infectious) pneumonitis that required steroids or has current pneumonitis.\n* Has an active infection requiring systemic therapy.\n* Has a known history of Human Immunodeficiency Virus (HIV) infection. Note: No HIV testing is required unless mandated by local health authority.\n* Has a known history of Hepatitis B (defined as Hepatitis B surface antigen \\[HBsAg\\] reactive) or known active Hepatitis C virus (defined as HCV RNA is detected) infection. NOTE: No testing for Hepatitis B and Hepatitis C is required unless mandated by local health authority.\n* Has a known history of active TB (Bacillus Tuberculosis).\n* Has urine protein greater than or equal to 1 g\u002F24 hours. Note: Participants with proteinuria \\> 2+ (greater than or equal to100 mg\u002FdL) on urine dipstick testing (urinalysis) will undergo 24-hour urine collection for quantitative assessment of proteinuria.\n\nNote: Urine dipstick is the preferred method for testing urinary protein, however, urinalysis may be used if the use of urine dipsticks is not feasible.\n\n* Electrolyte abnormalities that have not been corrected.\n* Has clinically significant cardiovascular disease within 12 months from first dose of study intervention: history of congestive heart failure greater than New York Heart Association (NYHA) Class II, unstable angina, myocardial infarction or stroke within 6 months of the first dose of study drug, or cardiac arrhythmia associated with hemodynamic instability and requiring medical treatment at screening. Note: Medically controlled arrhythmia would be permitted.\n* Has a LVEF below the institutional (or local laboratory) normal range, as determined by multigated acquisition (MUGA) or echocardiogram (ECHO).\n* Prolongation of QTcF interval to \\>480 msec, as calculated by either the Bazett or Fridericia formula, as per institutional standard.\n* Bleeding or thrombotic disorders or subjects at risk for severe hemorrhage. The degree of tumor invasion\u002Finfiltration of major blood vessels (e.g. carotid artery) should be considered because of the potential risk of severe hemorrhage associated with tumor shrinkage\u002Fnecrosis following lenvatinib therapy.\n* Has a known history of colitis.\n* Has clinically significant gastrointestinal malabsorption syndrome or any other condition that might affect the absorption of lenvatinib.\n* Has preexisting greater than or equal to Grade 3 gastrointestinal or non-gastrointestinal fistula\n* Active hemoptysis (bright red blood of at least 0.5 teaspoon) within 3 weeks prior to the first dose of study drug.\n* Has a known history of posterior reversible encephalopathy syndrome (PRES).\n* Participants with history or current evidence of any condition, therapy, or laboratory abnormality that might confound the results of the study, interfere with the subject's participation for the full duration of the study, or is not in the best interest of the subject to participate, in the opinion of the treating investigator.\n* Participants with psychiatric illness\u002Fsocial situations that would limit compliance with study requirements.\n* Is pregnant or breastfeeding, or expecting to conceive or father children within the projected duration of the study, starting with the screening visit through 120 days after the last dose of trial treatment. Pregnant women are excluded from this study because there is an unknown but potential risk for adverse events in nursing infants secondary to treatment of the mother with pembrolizumab and\u002For lenvatinib, and breastfeeding should be discontinued.","ALL","18 Years",{"count":19,"type":20},20,"ESTIMATED","INTERVENTIONAL",[23],"PHASE2","This research study is studying Lenvatinib in combination with Pembrolizumab in people with human papillomavirus (HPV)-associated recurrent respiratory papillomatosis (RRP).\n\nThe names of the study drugs involved in this study are:\n\n* Pembrolizumab\n* Lenvatinib",[26,27,28],"Human Papilloma Virus","Recurrent Respiratory Papillomatosis","Pulmonary Disease",[26,27,30],"Pulmonary Involvement","RECRUITING","2026-06-30",{"date":34,"type":35},"2026-07-02","ACTUAL",{"date":37,"type":35},"2025-07-18",{"date":39,"type":20},"2027-12",{"name":41,"class":42},"Yale University","OTHER",1,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":4,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":51,"targetDuration":4,"studyType":21,"phases":53,"briefSummary":55,"conditions":56,"keywords":4,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":57,"lastUpdatePostDateStruct":58,"startDateStruct":60,"completionDateStruct":62,"leadSponsor":64,"locationsCount":43},"100617325","phase-1-autologous-dendritic-cell-vaccine-for-recurrent-respiratory-papillomatosis-rrp-patients-100617325","NCT07317154","Autologous Dendritic Cell Vaccine For Recurrent Respiratory Papillomatosis (RRP) Patients","A Phase 1 Study Of The Safety And Immunogenicity Of Peptide-loaded Autologous Dendritic Cell Vaccination In Recurrent Respiratory Papillomatosis (RRP) Patients","Inclusion Criteria:\n\n* Clinically confirmed diagnosis of recurrent respiratory papillomatosis.\n* Patients with papillomas in the laryngeal mucosa at the time of recruitment and patients with records of recurrent papillomas in laryngeal mucosa at least once in the past 6-12 months at the time of recruitment. NOTE: The presence of papillomas in laryngeal mucosa or clinical records of the presence of papillomas in laryngeal mucosa is required.\n* Human papilloma virus (HPV)6+ RRP in larynx\n* ECOG (Eastern cooperative oncology group performance test) performance status 0 or 1 (Appendix I).\n* The following laboratory values obtained ≤ 28 days prior to apheresis.\n\n  * Absolute neutrophil count (ANC) ≥1.0 x 109 \u002FL\n  * Platelet count (PLT) ≥ 75 x 109 \u002FL\n  * Hemoglobin ≥ 8.5 g\u002FdL\n  * Lymphocytes ≥ 0.3 x 109 \u002FL\n  * Total bilirubin ≤ 2 x upper limit of normal (ULN), unless patient has a documented history of Gilbert's disease, then Direct bilirubin ≤1.0 mg\u002FdL.\n  * Aspartate transaminase (AST) ≤ 3 x ULN\n  * Creatinine ≤ 2.0 mg\u002FdL\n  * Monocytes ≥ 0.25 x 109 \u002FL\n* Able to provide informed written consent.\n* Willingness to return to Mayo Clinic Arizona for follow-up appointments\n* Willingness to provide blood samples for immune assessment and other tests\n* Willingness to provide papilloma tissues that will be surgically removed\n* Agree that during the trial, male participants will not father a child and female participants cannot be or become pregnant if they are of child-bearing potential.\n* Subjects must fulfill one of the following conditions:\n\n  * Agree to use one highly effective or combined contraceptive method that results in a failure rate of methods must always be supplemented with the use of spermicide.\n  * Be surgically sterile (vasectomy in males or absence of ovaries and\u002For uterus in females).\n  * Be of non-childbearing potential (≥12 months of non-therapy-induced amenorrhea, confirmed by follicle stimulating hormone \\[FSH\\], if not on hormone replacement).\n\nExclusion Criteria:\n\n* Co-morbid systemic illnesses or other severe concurrent disease which, in the judgment of the investigator, would make the patient inappropriate for entry into this study or interfere significantly with the proper assessment of safety and toxicity of the prescribed regimens.\n* Immunocompromised patients and patients known to be HIV positive and currently receiving antiretroviral therapy.\n* Uncontrolled intercurrent illness including, but not limited to, ongoing or active infection, symptomatic congestive heart failure, unstable angina pectoris, cardiac arrhythmia, or psychiatric illness\u002Fsocial situations that would limit compliance with study requirements.\n* Receiving any other approved or investigational agent (including immune checkpoint blockers, immune modulators, and therapeutic vaccine models) for recurrent respiratory papillomatosis patients which would be considered as a treatment for the papillomas in laryngeal mucosa ≤ 6 months prior to study enrollment.\n* Other active malignancy ≤ 5 years prior to enrollment. NOTE: If there is a history or prior malignancy, with the exception of adequately treated basal cell or squamous cell carcinoma of the skin, they must not be receiving other specific treatment for their cancer within one year.\n* History of unstable heart disease including myocardial infarction ≤ 6 months prior to registration, congestive heart failure requiring use of ongoing maintenance therapy, significant cardiac dysfunction (left ventricular injection fraction 24 hours) documented by repeated measurement ≤ 4 weeks prior to registration\n* Diagnosis of autoimmune disease, including, but not limited to, systemic lupus erythematosus, multiple sclerosis, rheumatoid arthritis, or ankylosing spondylitis.\n* Use of a systemic steroid (\\> 5 mg prednisone daily or equivalent) ≤ 4 weeks prior to registration.\n* Pregnant or breastfeeding or planning on becoming pregnant during the study period.\n* Requirement for central line placement for cell collections.",{"count":52,"type":20},9,[54],"PHASE1","The purpose of this study is to evaluate the safety and immunogenicity of autologous DC vaccine in recurrent respiratory papillomatosis patients",[27],"2026-03-30",{"date":59,"type":35},"2026-04-03",{"date":61,"type":20},"2026-04",{"date":63,"type":20},"2027-02",{"name":65,"class":42},"Mayo Clinic",{"id":67,"slug":68,"hasResults":11,"nctId":69,"briefTitle":70,"officialTitle":71,"acronym":4,"eligibilityCriteria":72,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":73,"targetDuration":4,"studyType":21,"phases":75,"briefSummary":77,"conditions":78,"keywords":81,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":87,"lastUpdatePostDateStruct":88,"startDateStruct":90,"completionDateStruct":92,"leadSponsor":94,"locationsCount":97},"100557466","phase-4-zopa-retreatment-and-vector-shedding-in-adults-with-rrp-100557466","NCT06538480","Zopa Retreatment and Vector Shedding in Adults With RRP","Open-Label Study of Zopapogene Imadenovec Retreatment and Vector Shedding Evaluation in Adult Patients With Recurrent Respiratory Papillomatosis","Key Inclusion Criteria:\n\n* Age 18 years and older.\n* Clinical diagnosis of recurrent respiratory papillomatosis with histological confirmation of papilloma.\n* Cohort 1: Treatment-naïve with respect to Zopa.\n* Cohort 2: Received a minimum of four administrations of Zopa at 5 × 10\\^11 PU per injection and require clinically indicated debulking procedures.\n* Presence of laryngotracheal papillomas accessible for endoscopic cleanout.\n* ECOG performance status 0 or 1.\n* Sexually active participants of reproductive potential must agree to use contraception during treatment and for 120 days for males and 6 months for females after last dose.\n* Ability to understand and sign informed consent.\n\nKey Exclusion Criteria:\n\n* Conditions or therapies that increase risk or interfere with participation per investigator judgment.\n* Systemic corticosteroids \\>10 mg prednisone equivalent or other immunosuppressive medications within 14 days prior to dosing.\n* Other systemic RRP treatments or investigational agents within 30 days.\n* History of heparin-induced thrombocytopenia or vaccine-induced thrombotic thrombocytopenia.\n* Active uncontrolled HIV, hepatitis B, or hepatitis C infection.\n* Pregnant or nursing women.\n* Known allergy to any study drug component.",{"count":74,"type":20},30,[76],"PHASE4","This open-label study evaluates safety, vector shedding, and retreatment efficacy of Zopapogene imadenovec (Zopa) in adults with recurrent respiratory papillomatosis (RRP). Two cohorts will be enrolled (n=30): Cohort 1 to assess the magnitude and duration of adenoviral vector shedding in urine, feces, skin, and nasal tissue; Cohort 2 to assess the complete response rate following retreatment.",[27,79,80],"Papillomavirus Infection","Papillomaviridae",[26,82,83,84,85,86],"laryngotracheal disease","papillomatous disease","Viral Shedding","Retreatment","Zopapogene imadenovec","2025-12-11",{"date":89,"type":35},"2025-12-15",{"date":91,"type":35},"2024-07-11",{"date":93,"type":20},"2028-12-02",{"name":95,"class":96},"Precigen, Inc","INDUSTRY",3,{"id":99,"slug":100,"hasResults":11,"nctId":101,"briefTitle":102,"officialTitle":102,"acronym":4,"eligibilityCriteria":103,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":104,"enrollmentInfo":105,"targetDuration":4,"studyType":107,"phases":4,"briefSummary":108,"conditions":109,"keywords":4,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":111,"lastUpdatePostDateStruct":112,"startDateStruct":114,"completionDateStruct":116,"leadSponsor":118,"locationsCount":43},"100547761","the-natural-history-and-biological-study-of-pulmonary-recurrent-respiratory-papillomatosis-prrp-100547761","NCT06412172","The Natural History and Biological Study of Pulmonary Recurrent Respiratory Papillomatosis (pRRP)","Inclusion Criteria:\n\n* History of HPV-associated Recurrent Respiratory Papillomatosis\n* Has pulmonary lesions\n\nExclusion Criteria:\n\n* None","99 Years",{"count":106,"type":20},100,"OBSERVATIONAL","Recurrent respiratory papillomatosis (RRP) is an orphan disease that affects approximately 20,000 people in the United States and is caused by infection with human papillomavirus (HPV) types 6 and 11. Since RRP is an orphan disease, it is an understudied disease entity with correspondingly few treatment options. The investigators hypothesize that by understanding the biology of RRP and the failed host immune responses against HPV, novel and rational therapies can be developed. This study will examine the genetic and immunologic alterations found in these rare tumors and distant metastatic involved sites (such as the lung) in patients diagnosed with RRP.",[27,110],"Pulmonary Neoplasm","2025-08-08",{"date":113,"type":35},"2025-08-12",{"date":115,"type":35},"2024-04-15",{"date":117,"type":20},"2030-04-15",{"name":119,"class":42},"Massachusetts General Hospital",{"id":121,"slug":122,"hasResults":11,"nctId":123,"briefTitle":124,"officialTitle":125,"acronym":126,"eligibilityCriteria":127,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":128,"targetDuration":130,"studyType":107,"phases":4,"briefSummary":131,"conditions":132,"keywords":475,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":518,"lastUpdatePostDateStruct":519,"startDateStruct":521,"completionDateStruct":523,"leadSponsor":525,"locationsCount":527},"100193378","rare-disease-patient-registry--natural-history-study---coordination-of-rare-diseases-at-sanford-100193378","NCT01793168","Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford","Coordination of Rare Diseases at Sanford","CoRDS","Inclusion Criteria:\n\n* Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare\u002Funcommon disease\n\nExclusion Criteria:\n\n* Diagnosis of a disease which is not rare",{"count":129,"type":20},20000,"100 Years","CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org\u002FCoRDS to enroll.",[133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207,208,209,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,225,226,227,228,229,230,231,232,233,234,235,236,237,238,239,240,241,242,243,244,245,246,247,248,249,250,251,252,253,254,255,256,257,258,259,260,261,262,263,264,265,266,267,268,269,270,271,272,273,274,275,276,277,278,279,280,281,282,283,284,285,286,287,288,289,290,291,292,293,294,295,296,297,298,299,300,301,302,303,304,305,306,307,308,309,310,311,312,313,314,315,316,317,318,319,320,321,322,323,324,325,326,327,328,329,330,331,332,333,334,335,336,337,338,339,340,341,342,343,344,345,346,347,348,349,350,351,352,353,354,355,356,357,358,359,360,361,362,363,364,365,366,367,368,369,370,371,372,373,374,375,376,377,378,379,380,381,382,383,384,385,386,387,388,389,390,391,392,393,394,395,396,397,398,399,400,401,402,27,403,404,405,406,407,408,409,410,411,412,413,414,415,416,417,418,419,420,421,422,423,424,425,426,427,428,429,430,431,432,433,434,435,436,437,438,439,440,441,442,443,444,445,446,447,448,449,450,451,452,453,454,455,456,457,458,459,460,461,462,463,464,465,466,467,468,469,470,471,472,473,474],"Rare Disorders","Undiagnosed Disorders","Disorders of Unknown Prevalence","Cornelia De Lange Syndrome","Prenatal Benign Hypophosphatasia","Perinatal Lethal Hypophosphatasia","Odontohypophosphatasia","Adult Hypophosphatasia","Childhood-onset Hypophosphatasia","Infantile Hypophosphatasia","Hypophosphatasia","Kabuki Syndrome","Bohring-Opitz Syndrome","Narcolepsy Without Cataplexy","Narcolepsy-cataplexy","Hypersomnolence Disorder","Idiopathic Hypersomnia Without Long Sleep Time","Idiopathic Hypersomnia With Long Sleep Time","Idiopathic Hypersomnia","Kleine-Levin Syndrome","Kawasaki Disease","Leiomyosarcoma","Leiomyosarcoma of the Corpus Uteri","Leiomyosarcoma of the Cervix Uteri","Leiomyosarcoma of Small Intestine","Acquired Myasthenia Gravis","Addison Disease","Hyperacusis (Hyperacousis)","Juvenile Myasthenia Gravis","Transient Neonatal Myasthenia Gravis","Williams Syndrome","Lyme Disease","Myasthenia Gravis","Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)","Isolated Klippel-Feil Syndrome","Frasier Syndrome","Denys-Drash Syndrome","Beckwith-Wiedemann Syndrome","Emanuel Syndrome","Isolated Aniridia","Axenfeld-Rieger Syndrome","Aniridia-intellectual Disability Syndrome","Aniridia - Renal Agenesis - Psychomotor Retardation","Aniridia - Ptosis - Intellectual Disability - Familial Obesity","Aniridia - Cerebellar Ataxia - Intellectual Disability","Aniridia - Absent Patella","Aniridia","Peters Anomaly - Cataract","Peters Anomaly","Potocki-Shaffer Syndrome","Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11","Silver-Russell Syndrome Due to Imprinting Defect of 11p15","Silver-Russell Syndrome Due to 11p15 Microduplication","Syndromic Aniridia","WAGR Syndrome","Wolf-Hirschhorn Syndrome","4p16.3 Microduplication Syndrome","4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome","Autosomal Recessive Stickler Syndrome","Stickler Syndrome Type 2","Stickler Syndrome Type 1","Stickler Syndrome","Mucolipidosis Type 4","X-linked Spinocerebellar Ataxia Type 4","X-linked Spinocerebellar Ataxia Type 3","X-linked Intellectual Disability - Ataxia - Apraxia","X-linked Progressive Cerebellar Ataxia","X-linked Non Progressive Cerebellar Ataxia","X-linked Cerebellar Ataxia","Vitamin B12 Deficiency Ataxia","Toxic Exposure Ataxia","Unclassified Autosomal Dominant Spinocerebellar Ataxia","Thyroid Antibody Ataxia","Sporadic Adult-onset Ataxia of Unknown Etiology","Spinocerebellar Ataxia With Oculomotor Anomaly","Spinocerebellar Ataxia With Epilepsy","Spinocerebellar Ataxia With Axonal Neuropathy Type 2","Spinocerebellar Ataxia Type 8","Spinocerebellar Ataxia Type 7","Spinocerebellar Ataxia Type 6","Spinocerebellar Ataxia Type 5","Spinocerebellar Ataxia Type 4","Spinocerebellar Ataxia Type 37","Spinocerebellar Ataxia Type 36","Spinocerebellar Ataxia Type 35","Spinocerebellar Ataxia Type 34","Spinocerebellar Ataxia Type 32","Spinocerebellar Ataxia Type 31","Spinocerebellar Ataxia Type 30","Spinocerebellar Ataxia Type 3","Spinocerebellar Ataxia Type 29","Spinocerebellar Ataxia Type 28","Spinocerebellar Ataxia Type 27","Spinocerebellar Ataxia Type 26","Spinocerebellar Ataxia Type 25","Spinocerebellar Ataxia Type 23","Spinocerebellar Ataxia Type 22","Spinocerebellar Ataxia Type 21","Spinocerebellar Ataxia Type 20","Spinocerebellar Ataxia Type 2","Spinocerebellar Ataxia Type 19\u002F22","Spinocerebellar Ataxia Type 18","Spinocerebellar Ataxia Type 17","Spinocerebellar Ataxia Type 16","Spinocerebellar Ataxia Type 15\u002F16","Spinocerebellar Ataxia Type 14","Spinocerebellar Ataxia Type 13","Spinocerebellar Ataxia Type 12","Spinocerebellar Ataxia Type 11","Spinocerebellar Ataxia Type 10","Spinocerebellar Ataxia Type 1 With Axonal Neuropathy","Spinocerebellar Ataxia Type 1","Spinocerebellar Ataxia - Unknown","Spinocerebellar Ataxia - Dysmorphism","Non Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Spasticity-ataxia-gait Anomalies Syndrome","Spastic Ataxia With Congenital Miosis","Spastic Ataxia - Corneal Dystrophy","Spastic Ataxia","Rare Hereditary Ataxia","Rare Ataxia","Recessive Mitochondrial Ataxia Syndrome","Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Posterior Column Ataxia - Retinitis Pigmentosa","Post-Stroke Ataxia","Post-Head Injury Ataxia","Post Vaccination Ataxia","Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract","Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus","Non-hereditary Degenerative Ataxia","Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity","Olivopontocerebellar Atrophy - Deafness","NARP Syndrome","Myoclonus - Cerebellar Ataxia - Deafness","Multiple System Atrophy, Parkinsonian Type","Multiple System Atrophy, Cerebellar Type","Multiple System Atrophy","Maternally-inherited Leigh Syndrome","Machado-Joseph Disease Type 3","Machado-Joseph Disease Type 2","Machado-Joseph Disease Type 1","Leigh Syndrome","Late-onset Ataxia With Dementia","Infection or Post Infection Ataxia","GAD Ataxia","Hereditary Episodic Ataxia","Gliadin\u002FGluten Ataxia","Friedreich Ataxia","Fragile X-associated Tremor\u002FAtaxia Syndrome","Familial Paroxysmal Ataxia","Exposure to Medications Ataxia","Episodic Ataxia With Slurred Speech","Episodic Ataxia Unknown Type","Episodic Ataxia Type 7","Episodic Ataxia Type 6","Episodic Ataxia Type 5","Episodic Ataxia Type 4","Episodic Ataxia Type 3","Episodic Ataxia Type 1","Epilepsy and\u002For Ataxia With Myoclonus as Major Feature","Early-onset Spastic Ataxia-neuropathy Syndrome","Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity","Early-onset Cerebellar Ataxia With Retained Tendon Reflexes","Early-onset Ataxia With Dementia","Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia","Dilated Cardiomyopathy With Ataxia","Cataract - Ataxia - Deafness","Cerebellar Ataxia, Cayman Type","Cerebellar Ataxia With Peripheral Neuropathy","Cerebellar Ataxia - Hypogonadism","Cerebellar Ataxia - Ectodermal Dysplasia","Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss","Brain Tumor Ataxia","Brachydactyly - Nystagmus - Cerebellar Ataxia","Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia","Autosomal Recessive Syndromic Cerebellar Ataxia","Autosomal Recessive Spastic Ataxia With Leukoencephalopathy","Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria","Autosomal Recessive Spastic Ataxia","Autosomal Recessive Metabolic Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine","Autosomal Recessive Ataxia, Beauce Type","Autosomal Recessive Ataxia Due to Ubiquinone Deficiency","Autosomal Recessive Ataxia Due to PEX10 Deficiency","Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia","Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia","Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome","Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity","Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency","Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect","Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion","Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation","Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness","Autosomal Recessive Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly","Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation","Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy","Autosomal Dominant Spastic Ataxia Type 1","Autosomal Dominant Spastic Ataxia","Autosomal Dominant Optic Atrophy","Ataxia-telangiectasia Variant","Ataxia-telangiectasia","Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy","Autosomal Dominant Cerebellar Ataxia Type 4","Autosomal Dominant Cerebellar Ataxia Type 3","Autosomal Dominant Cerebellar Ataxia Type 2","Autosomal Dominant Cerebellar Ataxia Type 1","Autosomal Dominant Cerebellar Ataxia","Ataxia-telangiectasia-like Disorder","Ataxia With Vitamin E Deficiency","Ataxia With Dementia","Ataxia - Oculomotor Apraxia Type 1","Ataxia - Other","Ataxia - Genetic Diagnosis - Unknown","Acquired Ataxia","Adult-onset Autosomal Recessive Cerebellar Ataxia","Alcohol Related Ataxia","Multiple Endocrine Neoplasia","Multiple Endocrine Neoplasia Type II","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Multiple Endocrine Neoplasia, Type IV","Multiple Endocrine Neoplasia, Type 3","Multiple Endocrine Neoplasia (MEN) Syndrome","Multiple Endocrine Neoplasia Type 2B","Multiple Endocrine Neoplasia Type 2A","Atypical Hemolytic Uremic Syndrome","Atypical HUS","Wiedemann-Steiner Syndrome","Breast Implant-Associated Anaplastic Large Cell Lymphoma","Autoimmune\u002FInflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis","Behcet's Disease","Alagille Syndrome","Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)","Lowe Syndrome","Pitt Hopkins Syndrome","1p36 Deletion Syndrome","Jansen Type Metaphyseal Chondrodysplasia","Cockayne Syndrome","Chronic Recurrent Multifocal Osteomyelitis","CRMO","Malan Syndrome","Hereditary Sensory and Autonomic Neuropathy Type Ie","VCP Disease","Hypnic Jerking","Sleep Myoclonus","Mollaret Meningitis","Recurrent Viral Meningitis","CRB1","Leber Congenital Amaurosis","Retinitis Pigmentosa","Rare Retinal Disorder","KCNMA1-Channelopathy","Primary Biliary Cirrhosis","ZMYND11","Transient Global Amnesia","Glycogen Storage Disease","Alstrom Syndrome","White Sutton Syndrome","DNM1","EIEE31","Myhre Syndrome","Laryngeal Papillomatosis","Tracheal Papillomatosis","Refsum Disease","Nicolaides Baraitser Syndrome","Leukodystrophy","Tango2","Cauda Equina Syndrome","Rare Gastrointestinal Disorders","Achalasia-Addisonian Syndrome","Achalasia Cardia","Achalasia Icrocephaly Syndrome","Anal Fistula","Congenital Sucrase-Isomaltase Deficiency","Eosinophilic Gastroenteritis","Idiopathic Gastroparesis","Hirschsprung Disease","Rare Inflammatory Bowel Disease","Intestinal Pseudo-Obstruction","Scleroderma","Short Bowel Syndrome","Sacral Agenesis","Sacral Agenesis Syndrome","Caudal Regression","Scheuermann Disease","SMC1A Truncated Mutations (Causing Loss of Gene Function)","Cystinosis","Juvenile Nephropathic Cystinosis","Nephropathic Cystinosis","Kennedy Disease","Spinal Bulbar Muscular Atrophy","Warburg Micro Syndrome","Mucolipidoses","Mitochondrial Diseases","Mitochondrial Aminoacyl-tRNA Synthetases","Mt-aaRS Disorders","Hypertrophic Olivary Degeneration","Non-Ketotic Hyperglycinemia","Fish Odor Syndrome","Halitosis","Isolated Congenital Asplenia","Lambert Eaton (LEMS)","Biliary Atresia","STAG1 Gene Mutation","Coffin Lowry Syndrome","Borjeson-Forssman-Lehman Syndrome","Blau Syndrome","Arginase 1 Deficiency","HSPB8 Myopathy","Beta-Mannosidosis","TBX4 Syndrome","DHDDS Gene Mutations","MAND-MBD5-Associated Neurodevelopmental Disorder","Constitutional Mismatch Repair Deficiency (CMMRD)","SPATA5 Disorder","SPATA5L1 Related Disorder","Acrodysostosis","Multi-systematic Smooth Muscle Dysfunction Syndrome","CRELD1 (Cysteine Rich With EGF Like Domains 1)","GNB1 Syndrome","Pyruvate Dehydrogenase Complex Deficiency Disease","Beta Mannosidosis","Kbg Syndrome","Labrune Syndrome","Metachromatic Leukodystrophy (MLD)","Moyamoya Disease","OPHN1 Syndrome","Oculopharyngeal Muscular Dystrophy (OPMD)","TUBB3 Mutation","WOREE (WWOX-related Epileptic Encephalopathy","SCAR12","Skraban-Deardorff Syndrome","Hereditary Myopathy With Early Respiratory Failure",[476,477,478,479,480,187,481,482,194,483,153,484,485,486,357,366,487,488,144,489,490,152,491,154,492,143,493,494,369,495,496,372,373,497,375,376,498,499,379,500,501,502,428,503,504,505,506,507,508,509,433,510,511,512,438,439,513,514,515,516,517],"Rare Diseases","Neglected Diseases","Orphan Diseases","Rare Disease Research","Registries","Ataxia","Cornelia de Lange Syndrome","Ataxia Telangiectasia","Batten Disease","Mucolipidosis IV","Klippel-Feil Syndrome","Undiagnosed","Uncommon Disease","Hypersomnia","Hyperacusis","Marinesco-Sjogren Syndrome","4p-\u002FWolf-Hirschhorn Syndrome","Narcolepsy","Wiedermann-Steiner Syndrome","Autoimmune\u002Finflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis (HLH)","Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)","1p36 deletion syndrome","Jansen metaphyseal chondrodysplasia","Chronic recurrent multifocal osteomyelitis (CRMO)","Malan syndrome","Hereditary Sensory and Autonomic Neuropathy","Juvenile nephropathic cystinosis","Nephropathic infantile cystinosis","Ocular cystinosis","Kennedy disease","Spinal Bulbar Muscular Atrophy (SBMA)","SMC1A Truncated Mutations (causing loss of gene function)","Leigh syndrome","Mucolipidosis","Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)","Shine Syndrome","Intestinal Bromhidrosis Syndrome","Fish odor syndrome","Autosomal recessive extra oral halitosis","CACNA1H mutation","Dimethylglycine dehydrogenase deficiency","2025-05-22",{"date":520,"type":35},"2025-05-29",{"date":522,"type":35},"2010-07",{"date":524,"type":20},"2100-12",{"name":526,"class":42},"Sanford Health",2]