Clinical trials: Rare Disease
Multiple Osteochondroma, Osteogenesis Imperfecta
Resilience and Coping in a Rare Skeletal Disease Population to Face Coronavirus (COVID-19) Outbreak Distress: a Longitudinal Study
In the COVID-19 outbreak context, people living with rare diseases have been highly troubled with anxiety, loneliness, and depression.
- Conditions
- Multiple Osteochondroma, Osteogenesis Imperfecta, Ollier Disease, Maffucci Syndrome
- Trial name
- RELOAD (NCT04844697)
- Where
- Italy
- Volunteers
- 15 people
- Sponsor
- Istituto Ortopedico Rizzoli
Sarcoma, Ovarian Neoplasm
Secured Access to Pembrolizumab for Patients With Selected Rare Cancer Types
This is a Phase 2, non-randomised, open-label, multicentric study to investigate the efficacy and safety of pembrolizumab monotherapy in 7 cohorts of patients with specific rare cancers who have unresectable locally advanced or…
- Conditions
- Sarcoma, Ovarian Neoplasm, Central Nervous System Neoplasm, Thyroid Neoplasm
- Trial name
- AcSé (NCT03012620)
- Testing
- Pembrolizumab
- Where
- France
- Volunteers
- 334 people
- Sponsor
- UNICANCER
Undiagnosed Disease, Rare Diseases
Rare and Undiagnosed Disease Research Biorepository
This research study is being done to find markers and identify causes of rare and undiagnosed diseases by analyzing patient's DNA (i.e., genetic material), RNA, plasma, urine, tissues, or other samples that could be informative…
- Trial name
- PRaUD (NCT04703179)
- Testing
- Genetic test evaluation
- Where
- 3 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Anaplastic Astrocytoma, Anaplastic Ependymoma
SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors
Approximately 90% of children with malignant brain tumors that have recurred or relapsed after receiving conventional therapy will die of disease.
- Conditions
- Anaplastic Astrocytoma, Anaplastic Ependymoma, Anaplastic Ganglioglioma, Anaplastic Meningioma
- Trial name
- NCT03434262
- Testing
- Gemcitabine, ribociclib, sonidegib
- Where
- United States
- Volunteers
- 68 people
- Sponsor
- St. Jude Children's Research Hospital
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Rare Diseases, Congenital Disorders
Vocal Pattern Assessment as a New Key to Identifying Rare Syndromes
Primary Study Objective The primary objective of the study is the definition of distinct vocal phenotypes and the development of an Explained Decision Support System (DSS) for the automatic detection of vocal patterns in relation…
- Trial name
- FONOTIPO (NCT05955794)
- Testing
- voice recordings
- Where
- Italy
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Cytomegalovirus Retinitis, Acquired Immunodeficiency Syndrome
Phase II Randomized Study of Cidofovir for Peripheral Cytomegalovirus Retinitis
OBJECTIVES: I. Evaluate the safety and efficacy of intravenous cidofovir in patients with small peripheral cytomegalovirus retinitis. II. Obtain safety and efficacy data related to different dosages of cidofovir.
- Trial name
- NCT00004794
- Testing
- cidofovir
- Volunteers
- 90 people
- Sponsor
- National Center for Research Resources (NCRR)
Fragile X Syndrome (FXS), Autism Spectrum Disorder
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism…
- Trial name
- NCT06677866
- Testing
- Cognitive behavioral therapy, Waiting List
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Heart Septal Defects, Ventricular
Study of Energy Expenditure in Infants With Ventricular Septal Defects
OBJECTIVES: I. Compare the total daily energy expenditure in infants with ventricular septal defects vs healthy control infants.
- Trial name
- NCT00006272
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Sickle Cell Disease, Thalassemia
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect
- Trial name
- RADeep (NCT06213402)
- Testing
- Data collection from EHR.
- Where
- Spain
- Volunteers
- 32,564 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Williams Syndrome, Supravalvular Aortic Stenosis
Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank
Williams syndrome is a rare genetic disorder occurring in 1:8000-12,000 individuals. It is caused by the deletion of 25-27 coding genes, including elastin (ELN) on the 7th human chromosome.
- Conditions
- Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
- Trial name
- NCT02706639
- Where
- 3 sites in United States
- Volunteers
- 305 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Growth Disorders
Pilot Study of the Effect of Baclofen and Bromocriptine on Luteinizing Hormone Secretion in Pubertal Children
OBJECTIVES: I. Evaluate the effect of bromocriptine on luteinizing hormone (LH) secretion by suppression of prolactin and stimulation of dopaminergic receptors in early pubertal boys and girls. II.
- Trial name
- NCT00004793
- Volunteers
- 4 people
- Sponsor
- National Center for Research Resources (NCRR)
Insulin Resistance, Hyperglycemia
Study of Recombinant Human Insulin-Like Growth Factor I in Patients With Severe Insulin Resistance
OBJECTIVES: I. Determine the efficacy and toxic effects of recombinant human insulin-like growth factor I (rhIGF-I) on carbohydrate tolerance, insulin action, insulin secretion, hyperandrogenism, and hyperlipidemia in patients…
- Trial name
- NCT00004419
- Testing
- insulin-like growth factor I
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Beth Israel Deaconess Medical Center
Haematological Malignancy, Malignant Neoplasm
DETERMINE Trial Treatment Arm 07: Dabrafenib in Combination With Trametinib in Adult, Paediatric and Teenage/Young Adult Patients With BRAF V600 Mutation-Positive Cancers.
This clinical trial is looking at two drugs called dabrafenib and trametinib. Dabrafenib and trametinib are approved as standard of care treatment for adult patients with melanoma (a type of skin cancer) or lung cancer and in…
- Conditions
- Haematological Malignancy, Malignant Neoplasm, Lymphoproliferative Disorders, Neoplasms by Histologic Type
- Trial name
- DETERMINE (NCT07440290)
- Testing
- Dabrafenib, Trametinib
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK
Rare Diseases, Genetic Predisposition
Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
The DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpatient/ inpatient standard care at the UKT…
- Trial name
- DiRiP-RD (NCT03491280)
- Testing
- NGS Diagnostic
- Where
- Germany
- Volunteers
- 5,500 people
- Sponsor
- University Hospital Tuebingen
Lennox-Gastaut Syndrome
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Topiramate for Lennox-Gastaut Syndrome
OBJECTIVES: I. Evaluate the safety and efficacy of oral topiramate in patients with Lennox-Gastaut syndrome.
- Trial name
- NCT00004776
- Testing
- topiramate
- Volunteers
- 10 people
- Sponsor
- National Center for Research Resources (NCRR)
Appendix Cancer, Pseudomyxoma Peritonei
The Appendix Cancer PMP Research Foundation Natural History Study/Patient Registry
ACPMP's first-ever patient-powered global patient registry/natural history study collects patient and caregiver information and data to fuel clinical trials and drive breakthroughs for appendix cancer and PMP.
- Trial name
- NCT07769346
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Appendix Cancer Pseudomyxoma Peritonei Research Foundation
Rare Disease, Undiagnosed Disease
EpiSign International: Expanding Epigenomic Testing in Rare Disease
The purpose of this study is to assess the utility of EpiSign software and an integrated DNA methylation and copy number variant (CNV) microarray technology in helping to diagnose individuals with rare diseases.
- Conditions
- Rare Disease, Undiagnosed Disease, Genetic Diseases, Inborn, Congenital Abnormalities
- Trial name
- NCT07839754
- Testing
- Integrated EPIC/CNV microarray with EpiSign analysis, EpiSign analysis with EPIC DNA methylation microarray
- Where
- United Kingdom
- Volunteers
- 192 people
- Sponsor
- University of Manchester
DiGeorge Syndrome, Shprintzen Syndrome
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II.
- Conditions
- DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities, Abnormalities, Multiple
- Trial name
- NCT00005102
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- National Center for Research Resources (NCRR)