Clinical trials: Rare Disorders
Intellectual Disabilities, Congenital Anomaly
Genome Medical Sequencing for Gene Discovery
Background: A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown.
- Conditions
- Intellectual Disabilities, Congenital Anomaly, Rare Disorders
- Trial name
- NCT01087320
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Neurodevelopmental Disorders, Intellectual Disability
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Autism Spectrum Disorder, Genetic Diseases, Inborn
- Trial name
- LEOPARD (NCT07884227)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Giannina Gaslini
Rare Disorders, Rare Diseases
Artificial Intelligence for General and Rare Disease Diagnosis
A multicentre, randomised diagnostic accuracy study to evaluate whether the GENESIS AI diagnostic support system can improve diagnostic accuracy and efficiency for physicians managing real-world clinical general and rare cases.
- Conditions
- Rare Disorders, Rare Diseases, Generalist AI
- Trial name
- NCT07625436
- Testing
- AI-Assisted Diagnosis
- Where
- 11 sites in China
- Volunteers
- 243 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College Hospital
Rare Disorders, Rare Diseases
AI-assisted Rare Disease Diagnosis
A multicentre randomised controlled trial evaluating whether a rare-disease diagnostic large language model can improve diagnostic quality, efficiency, and health-economic outcomes for physicians managing patients with suspected…
- Trial name
- NCT07650799
- Testing
- AI system
- Where
- 12 sites in China
- Volunteers
- 1,056 people
- Sponsor
- Peking Union Medical College Hospital
Inherited Hematological Diseases, Rare Diseases
Longitudinal Studies of Patient With FPDMM
Background: Genes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a variant in the gene RUNX1.
- Conditions
- Inherited Hematological Diseases, Rare Diseases, FPDMM
- Trial name
- NCT03854318
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Friedreich's Ataxia (FA)
A Study of SGT-212 Gene Therapy in Friedreich's Ataxia
This is a phase 1b, first in-human, open-label, dose-finding study investigating the safety and tolerability of SGT-212 in participants with Friedreich's ataxia (FA).
- Trial name
- FALCON (NCT07180355)
- Testing
- SGT-212
- Where
- 3 sites in United States
- Volunteers
- 10 people
- Sponsor
- Solid Biosciences Inc.
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Evaluation of Mainstreamed Models of Genetic Service Delivery, Genetic Disease
Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada
Genomic sequencing (GS) is increasingly recommended as a diagnostic test for patients with suspected genetic disorders, but access often remains limited to those referred to medical geneticists.
- Conditions
- Evaluation of Mainstreamed Models of Genetic Service Delivery, Genetic Disease, Neurodevelomental Disorders
- Trial name
- NCT07799792
- Testing
- Genome-wide Sequencing Ordering
- Volunteers
- 100 people
- Sponsor
- The Hospital for Sick Children
Endocrine Disorder, Rare Disorders
Transition of Care in Pediatric Rare Endocrine Disorders
This study will evaluate the transition from pediatric to adult care in patients with pediatric-onset rare endocrine disorders. The study includes three components: a review of medical records to assess previous transition…
- Trial name
- TRANSPIRE (NCT07786142)
- Testing
- Structured Transition-of-Care Program
- Where
- 11 sites in South Korea
- Volunteers
- 150 people
- Sponsor
- Seoul National University Hospital
Hematologic Disorder, Bleeding Disorder
ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders
In parallel with the growth of ATHN's clinical studies, the number of new therapies for all blood disorders is increasing significantly.
- Conditions
- Hematologic Disorder, Bleeding Disorder, Connective Tissue Disorder, Hemophilia
- Trial name
- NCT04398628
- Where
- 76 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- American Thrombosis and Hemostasis Network
Developmental Delay Disorder, Intellectual Disability
Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
To evaluate the safety, tolerability and preliminary efficacy study of a single intrathecal injection of the dual vector AAV-CHD3-R1025W base editor for the treatment of developmental disorders caused by the R1025W mutation in…
- Conditions
- Developmental Delay Disorder, Intellectual Disability, Rare Diseases
- Trial name
- NCT06860672
- Testing
- Dual vector DNA base editor
- Where
- China
- Volunteers
- 1 people
- Sponsor
- Yongguo Yu
Orphan Diseases, Rare Disorders
Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease Patients
"Rare Diseases" is an umbrella term including more than 8.000 different diseases which individually affect only a small percentage of people.
- Conditions
- Orphan Diseases, Rare Disorders, Pediatric Diseases, Inborn Errors of Metabolism Disorders
- Trial name
- NCT06729554
- Testing
- Education & Care in RARE
- Where
- 7 sites in Austria
- Volunteers
- 100 people
- Sponsor
- Medical University of Vienna
Rare Diseases, Neuromyelitis Optica Spectrum Disorder (NMOSD)
Epidemiological Study of Treatment Approaches on AQP4-IgG Positive NMOSD in Russia
This is a multi-centre, retrospective-prospective, single-arm, non-interventional (observational) cohort study with secondary data collection within real-world settings of participants with AQP4-IgG positive NMOSD.
- Trial name
- NCT07247292
- Where
- Russia
- Volunteers
- 3 people
- Sponsor
- AstraZeneca
Fragile X Syndrome (FXS), Fragile X Syndrome
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
- Trial name
- FXS-CTH120-01 (NCT07654114)
- Testing
- CTH120
- Where
- 2 sites in Spain
- Volunteers
- 30 people
- Sponsor
- Connecta Therapeutics, S.L.
Rare Disorder, Disorder, Neurologic
Stakeholders of Rare Diseases Informing Values In Neuroethics
The purpose of this research study is to learn more about the perspectives of key stakeholders-patients, families, healthcare providers, and researchers-on the ethical challenges of small-scale, personalized treatment trials for…
- Trial name
- NCT07314736
- Where
- United States
- Volunteers
- 385 people
- Sponsor
- St. Jude Children's Research Hospital
Rare Diseases, Pediatric Disorder
Marfan Syndrome and Quality of Life of Pediatric Patients
The goal of this observational study is to learn about the impact of Marfan syndrome (MFS) in paediatric affected subjects. the main questions it aims to answer are: The assessment of quality of life in MFS Italian patients; The…
- Trial name
- MarfanPed (NCT05748314)
- Testing
- Questionnaire
- Where
- Italy
- Volunteers
- 80 people
- Sponsor
- IRCCS Policlinico S. Donato
Osteogenesis Imperfecta, Rare Bone Disorders
Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis
MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through…
- Conditions
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia, X-Linked
- Trial name
- MOSAIC (NCT07666269)
- Testing
- intra-oral 3D optical impression
- Where
- France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Acinar Cell Carcinoma, Adenoid Cystic Carcinoma
Nivolumab and Ipilimumab in Treating Patients With Rare Tumors
This phase II trial studies nivolumab and ipilimumab in treating patients with rare tumors. Immunotherapy with monoclonal antibodies, such as nivolumab and ipilimumab, may help the body's immune system attack the cancer, and may…
- Conditions
- Acinar Cell Carcinoma, Adenoid Cystic Carcinoma, Adrenal Cortical Carcinoma, Adrenal Gland Pheochromocytoma
- Trial name
- NCT02834013
- Testing
- Biospecimen Collection, Computed Tomography, Echocardiography Test
- Where
- 1,007 sites in United States, Guam
- Volunteers
- 798 people
- Sponsor
- National Cancer Institute (NCI)
Microvillus Inclusion Disease, Congenital Disorders
Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Microvillus Inclusion Disease (MVID)
A study that will evaluate the safety, tolerability and preliminary efficacy of multiple ascending doses of crofelemer, compared to placebo, using a randomized cross-over design within each dose level, when administered to…
- Conditions
- Microvillus Inclusion Disease, Congenital Disorders, Rare Diseases
- Trial name
- NCT06721871
- Testing
- Crofelemer Powder for Oral Solution
- Where
- 3 sites in United States, Italy and 1 more
- Volunteers
- 6 people
- Sponsor
- Napo Pharmaceuticals, Inc.
Rare Diseases, Autism or Autistic Traits
Baker Gordon Syndrome Natural History Study
The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of children and adults with Synaptotagmin1-Associated Neurodevelopmental Disorder also known as Baker Gordon Syndrome…
- Conditions
- Rare Diseases, Autism or Autistic Traits, Development Delay, SYT-SSX Fusion Protein Expression
- Trial name
- BAGOS (NCT06399952)
- Testing
- Brain Magnetic Resonance Imaging (MRI), Whole Genome Sequencing, Induced Pluripotential Stem Cells
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of Missouri-Columbia