Clinical trials: Rare Disorders, open to volunteers
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
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
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
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
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
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
Genetic Disease, Nonverbal Communication
Using a Speech-Generating Device to Support Communication in Rare Genetic Conditions
Individuals with rare genetic conditions may experience a delay or loss of developmental skills. Many have limited verbal speech.
- Conditions
- Genetic Disease, Nonverbal Communication, Augmentative and Alternative Communication, Rare Genetic Disease
- Trial name
- NCT07039084
- Testing
- Speech-generating device, Control
- Where
- Australia
- Volunteers
- 38 people
- Sponsor
- Murdoch Childrens Research Institute
Huntington Disease
A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease
The main goal of this study is to evaluate the safety, tolerability, and preliminary efficacy of SPK-10001 in participants with Huntington's Disease.
- Trial name
- NCT06826612
- Testing
- SPK-10001
- Where
- 5 sites in United States
- Volunteers
- 53 people
- Sponsor
- Hoffmann-La Roche
Rare Disorders
Implementing Dynamic Consent for Rare Disease Patients
The study aims to test on a cohort of rare patients a digital innovative tool to support patients/parents in the informed consent and assent process and to keep up-to-date a lawful informed and dynamic consent and to use samples…
- Trial name
- ConsDinamico (NCT06656247)
- Testing
- Online consenting
- Volunteers
- 50 people
- Sponsor
- Istituto Ortopedico Rizzoli
Undiagnosed Conditions, Rare Disorders
Gene Discovery Core, The Manton Center
The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions.
- Conditions
- Undiagnosed Conditions, Rare Disorders, Orphan Diseases
- Trial name
- NCT02743845
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Boston Children's Hospital
Genetic of Intellectual Deficiency, Autism Spectrum Disorder
Genetic of Intellectual Deficiency and Autism Spectrum Disorders (RaDiCo-GenIDA)
The aim of this observational study is to develop an alternative database model for genetically originated intellectual disabilities.
- Trial name
- RaDiCo-GenIDA (NCT06871696)
- Where
- France
- Volunteers
- 1,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Metabolic Disorder, End Stage Renal Disease
Rheopheresis as Adjuvant Treatment of Calciphylaxis
The investigators propose to set up a prospective randomized controlled trial to control the security and assess the efficacy of adjuvant treatment by rheopheresis in necrotizing-ulcered calciphylaxis in the hemodialysis…
- Conditions
- Metabolic Disorder, End Stage Renal Disease, Rare Diseases
- Trial name
- RHEO-CAL (NCT04654000)
- Testing
- Rheopheresis procedure
- Where
- 29 sites in France
- Volunteers
- 138 people
- Sponsor
- University Hospital, Lille