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Showing 1–24 of 63 matching trials from the live ClinicalTrials.gov search.
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Conditions
Chronic Pain, Marfan Syndrome, Vascular Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome
Interventions
Empowered Relief
Behavioral
Lead sponsor
Stanford University
Other
Eligibility
18 Years and older
Enrollment
92 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024
U.S. locations
1
States / cities
Palo Alto, California
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Palliative Care Needs of Children With Rare Diseases and Their Families

NCT06938542
Conditions
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
Interventions
Family Centered pediatric palliative care for family caregivers of children with rare diseases.
Behavioral
Lead sponsor
Children's National Research Institute
Other
Eligibility
12 Months to 99 Years
Enrollment
480 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2029
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Recruiting No phase listed Observational Accepts healthy volunteers

RASopathy Biorepository

NCT04395495
Conditions
RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines, Noonan Neurofibromatosis Syndrome, Cardiofaciocutaneous Syndrome, Costello Syndrome, Legius Syndrome, Smith-Kingsmore Syndrome, MTOR Gene Mutation, GATOR-1 Gene Mutation, SYNGAP1-Related Intellectual Disability, DLG4, MAPK1 Gene Mutation
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2065
U.S. locations
1
States / cities
Cincinnati, Ohio
Conditions
Noonan Syndrome
Interventions
Vosoritide Injection
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
3 Years to 11 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2041
U.S. locations
22
States / cities
Los Angeles, California • Orange, California • Aurora, Colorado + 19 more
Conditions
Solid Tumor
Interventions
RMC-4630, Cobimetinib, Drug: Osimertinib
Drug
Lead sponsor
Revolution Medicines, Inc.
Industry
Eligibility
18 Years and older
Enrollment
113 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
21
States / cities
Scottsdale, Arizona • Duarte, California • Orange, California + 18 more
Conditions
DiGeorge Syndrome, Hypoparathyroidism, Complete DiGeorge Syndrome
Interventions
Thymus/Parathyroid Transplantation
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Up to 24 Months
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Conditions
22q11.2 Deletion Syndrome
Interventions
NFC-1
Drug
Lead sponsor
Aevi Genomic Medicine, LLC, a Cerecor company
Industry
Eligibility
12 Years to 17 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome, STAT 1 Gain of Function, STAT 3 Gain of Function, Hypomorphic RAG1 Deficiency, CD40 Ligand Deficiency, Mendelian Susceptibility to Mycobacterial Disease, GATA2 Associated Immunodeficiency, CD40 Deficiency, Hypomorphic RAG2 Deficiency, Immune Dysregulation Polyendocrinopathy Enteropathy X-Linked Syndrome, Omenn Syndrome, Chronic Granulomatous Disease
Interventions
Hematopoietic stem cell transplant (HSCT)
Biological
Lead sponsor
Paul Szabolcs
Other
Eligibility
5 Years to 40 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2031
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Conditions
Costello Syndrome, Noonan Syndrome, Cardiofaciocutaneous Syndrome, Legius Syndrome, Capillary Arteriovenous Malformation Syndrome, RASopathy
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
1 Month to 99 Years
Enrollment
500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2035
U.S. locations
2
States / cities
Bethesda, Maryland • Rockville, Maryland
Conditions
Turner Syndrome, Short Stature Homeobox Gene Mutation, Idiopathic Short Stature, Small for Gestational Age at Delivery
Interventions
Lonapegsomatropin [SKYTROFA®], Somatropin Pen Injector
Combination Product
Lead sponsor
Ascendis Pharma A/S
Industry
Eligibility
2 Years to 17 Years
Enrollment
186 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
17
States / cities
Palo Alto, California • Sacramento, California • Aurora, Colorado + 13 more
Conditions
Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML, BAP1 Tumor Predisposition Syndrome, Carney Complex, Choroid Plexus Carcinoma, Constitutional Mismatch Repair Deficiency Syndrome, Diamond-Blackfan Anemia, DICER1 Syndrome, Dyskeratosis Congenita, Emberger Syndrome, Familial Acute Myeloid Leukemia, Familial Adenomatous Polyposis, Fanconi Anemia, Familial Cancer, Familial Wilms Tumor, Familial Neuroblastoma, GIST, Hereditary Breast and Ovarian Cancer, Hereditary Paraganglioma-Pheochromocytoma Syndrome, Hodgkin Lymphoma, Juvenile Polyposis, Li-Fraumeni Syndrome, Lynch Syndrome, MDS, Melanoma Syndrome, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, Neuroblastoma, Neurofibromatosis Type 1, Neurofibromatosis Type II, Nevoid Basal Cell Carcinoma Syndrome, Non Hodgkin Lymphoma, Noonan Syndrome and Other Rasopathy, Overgrowth Syndromes, Pancreatic Cancer, Peutz-Jeghers Syndrome, Pheochromocytoma/Paraganglioma, PTEN Hamartoma Tumor Syndrome, Retinoblastoma, Rhabdoid Tumor Predisposition Syndrome, Rhabdomyosarcoma, Rothmund-Thomson Syndrome, Tuberous Sclerosis, Von Hippel-Lindau Disease
Interventions
Not listed
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2037
U.S. locations
1
States / cities
Memphis, Tennessee
Completed Not applicable Interventional Accepts healthy volunteers Results available

Mindfulness Program for Adolescents With 22q11DS

NCT05849441
Conditions
22Q11 Deletion Syndrome
Interventions
Aware Program
Behavioral
Lead sponsor
Innovation Research & Training
Other
Eligibility
12 Years to 19 Years
Enrollment
110 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
Durham, North Carolina
Completed Not applicable Interventional

Cognitive Remediation in 22q11DS

NCT01781923
Conditions
22q11.2 Deletion Syndrome, Velo-Cardio-Facial Syndrome
Interventions
Cognitive remediation program, Small group social skills training
Behavioral
Lead sponsor
Duke University
Other
Eligibility
11 Years to 17 Years
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2015
U.S. locations
1
States / cities
Durham, North Carolina
Conditions
Facial Injuries, Traumatic Wounds and Injuries, Craniofacial Injuries, Craniofacial Defects, Facial Transplantation, Facial Deformity
Interventions
Bone marrow cell-based therapy & 1-drug immunosuppression.
Drug
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years to 65 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2031
U.S. locations
1
States / cities
Baltimore, Maryland
Conditions
Cardiomegaly
Interventions
MEK162
Drug
Lead sponsor
Array Biopharma, now a wholly owned subsidiary of Pfizer
Industry
Eligibility
18 Years to 65 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Marfan Syndrome, Turner Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 Genetic Mutation, Bicuspid Aortic Valve Without Known Family History, Bicuspid Aortic Valve With Family History, Bicuspid Aortic Valve With Coarctation, Familial Thoracic Aortic Aneurysm and Dissections, Shprintzen-Goldberg Syndrome, Other Aneur/Diss of Thoracic Aorta Not Due to Trauma, <50yo, Other Congenital Heart Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Enrollment
3,706 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2016
U.S. locations
7
States / cities
Honolulu, Hawaii • Baltimore, Maryland • New York, New York + 3 more
Conditions
DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions
Thymus Tissue for Transplantation
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Completed Phase 1Phase 2 Interventional Results available

Phase I/II Thymus Transplantation With Immunosuppression #950

NCT00579527
Conditions
DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete Atypical DiGeorge Anomaly, Complete DiGeorge Syndrome, Complete Atypical DiGeorge Syndrome
Interventions
Cultured Thymus Tissue for Implantation (CTTI), Cultured Thymus Tissue Implantation and Parental Parathyroid Transplantation, Blood Draw, Rabbit anti-thymocyte globulin, Cyclosporine, Tacrolimus, Methylprednisolone or Prednisolone, Daclizumab, Mycophenolate mofetil
Biological · Other · Procedure + 1 more
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2017
U.S. locations
1
States / cities
Durham, North Carolina
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Chromosome Deletion, Aneuploidy
Interventions
Blood sampling for Laboratory Developed Test (LDT) analysis
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years to 54 Years · Female only
Enrollment
760 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
8
States / cities
Scottsdale, Arizona • Eunice, Louisiana • Brooklyn, New York + 5 more
Completed Phase 2 Interventional Results available

Thymus Transplantation in DiGeorge Syndrome #668

NCT00576407
Conditions
DiGeorge Syndrome, Complete Typical DiGeorge Anomaly
Interventions
Cultured Thymus Tissue for Implantation (CTTI)
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1991 – 2017
U.S. locations
1
States / cities
Durham, North Carolina
Terminated Phase 3 Interventional Results available

Effects of PTH Replacement on Bone in Hypoparathyroidism

NCT00395538
Conditions
Hypoparathyroidism, DiGeorge Syndrome
Interventions
PTH 1-34
Drug
Lead sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Eligibility
18 Years to 70 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Neurofibromatosis 1, Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome, Costello Syndrome
Interventions
Waitlist, ACT Intervention
Behavioral
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
22Q11.2 Deletion Syndrome
Interventions
ZYN002
Drug
Lead sponsor
Harmony Biosciences Management, Inc.
Industry
Eligibility
4 Years to 17 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
1
States / cities
Greenville, South Carolina
Completed Not applicable Interventional Results available

Thymus Transplantation Safety-Efficacy

NCT01220531
Conditions
Complete DiGeorge Anomaly, DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions
Cultured Thymus Tissue
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2023
U.S. locations
1
States / cities
Durham, North Carolina