Clinical trials: Genetic Conditions, open to volunteers
Alpha 1 Antitrypsin Deficiency
A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD)
This is a Phase 1, open-label, single ascending dose (SAD) and multiple dose (MD) study of AIR-001 in participants with alpha-1 antitrypsin deficiency (AATD) due to PiZZ genotype.
- Trial name
- RepAIR1 (NCT07431112)
- Testing
- AIR-001 SAD dose level 1, AIR-001 SAD dose level 2, AIR-001 SAD dose level 3
- Where
- 13 sites in Australia, Georgia and 7 more
- Volunteers
- 54 people
- Sponsor
- AIRNA Corporation
Genetic Conditions, Genetic Disorders
RNA to the RESCUE: Evaluation to Assess the Clinical Utility of RNA Sequencing in Establishing a Genetic Diagnosis or Adjudicating a Previously Established Genetic Diagnosis.
The goal of this observational study is to see if ribonucleic acid (RNA) sequencing can improve the diagnostic yield and accuracy of genetic testing compared to gene sequencing alone.
- Trial name
- NCT07787975
- Testing
- RNA sequencing
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of California, San Francisco
Early Onset Genetic Conditions With Near Complete Penetrance
Genomic Uniformed-Screening Against Rare Disease In All Newborns
The goal of this study is to learn how genomic sequencing technology can be used to effectively expand the conditions screened on newborn screening.
- Trial name
- GUARDIAN (NCT05990179)
- Testing
- Genome sequencing-based newborn screening
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Childhood Apraxia of Speech, Genetic Condition
Speech Therapy for Children With Rare Genetic Conditions and Childhood Apraxia of Speech
The goal of this trial is to learn if speech therapy can improve speech accuracy in children with rare genetic conditions and childhood apraxia of speech (CAS). This study will look at each child individually.
- Trial name
- NCT07815249
- Testing
- Rapid Syllable Transition Treatment, Dynamic Temporal and Tactile Cueing
- Where
- Australia
- Volunteers
- 20 people
- Sponsor
- Murdoch Childrens Research Institute
Genetic Disease, Immune Dysfunction
Natural History of Type 1 Interferonopathies: Insights From a European Cohort
Type I interferonopathies are rare autoinflammatory disorders caused by genetic defects and associated with significant morbidity and mortality. These diseases are refractory to conventional immunosuppressive therapies.
- Conditions
- Genetic Disease, Immune Dysfunction, Neurological Diseases or Conditions, Autoimmune Diseases
- Trial name
- EU-IFNp (NCT07040774)
- Where
- 32 sites in Austria, Belgium and 9 more
- Volunteers
- 500 people
- Sponsor
- Imagine Institute
Any Conditions That Are Genetic or Suspected to be Genetic in Origin
UCSF Center for Genome Surgery Biobank and Registry
Gene editing approaches (including but not limited to: CRISPR, LNP, AAV, RNAi etc.) for the medical specialty of interventional genomics require (1) determination of the clinical relevance of genomic variants and (2) systematic…
- Trial name
- NCT07396285
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Genetic Conditions
Observational Study of Advanced Data Analytics in Genetic Conditions
Background: The genes a person is born with can sometimes cause serious diseases. Genetic diseases are rare, but they can have a big impact on the people they affect.
- Trial name
- NCT05657405
- Where
- United States
- Volunteers
- 1,250 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Skin Disease, Skin Disorder
Coping Strategies, Loneliness, and Resilience in Patients With Dermatosis
The European Society for Dermatology \& Psychiatry (ESDaP) studies the connection between the skin and the mind. Two previous studies of this type were conducted in 13 and 15 European countries, respectively.
- Conditions
- Skin Disease, Skin Disorder, Skin Condition, Inflammatory Skin Conditions
- Trial name
- ESDaP3 (NCT07640373)
- Testing
- Questionnaires
- Where
- France
- Volunteers
- 375 people, healthy volunteers welcome
- Sponsor
- University Hospital, Brest
Cerebral Palsy, Pediatric Stroke
BCI@Home: Brain Computer Interface Solutions to Enable Youth Living With Severe Disabilities
The goal of this trial is to evaluate use of brain computer interfaces (BCI) at home for children with severe severe physical disabilities. The main questions it aims to answer are: 1.
- Conditions
- Cerebral Palsy, Pediatric Stroke, Genetic Condition, Acquired Brain Injury (Including Stroke)
- Trial name
- BCI@home (NCT07073378)
- Testing
- Brain computer interface
- Where
- 2 sites in Canada
- Volunteers
- 18 people
- Sponsor
- University of Calgary
Genetic Conditions
TRIAGE-GS: Towards Reducing Inefficiencies Affecting Genetics Encounters Through Genome Sequencing
Individually rare genetic diseases are collectively common, and affect many Canadian families. Making the right diagnosis is both important and challenging.
- Trial name
- TRIAGE-GS (NCT06935019)
- Testing
- Genome sequencing pre-geneticist evaluation
- Where
- 2 sites in Canada
- Volunteers
- 200 people
- Sponsor
- The Hospital for Sick Children
Mitochondrial Diseases, Neurological Diseases or Conditions
The Natural History of Mitochondrial Diseases
The Natural History of Mitochondrial (MITO) Diseases (a longitudinal study observing the natural history of mitochondrial diseases) The goal of this observational study (non-randomised retrospective and prospective) is to fully…
- Conditions
- Mitochondrial Diseases, Neurological Diseases or Conditions, Genetic Disease
- Trial name
- NCT06504433
- Testing
- Confirmed variant/deletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain
- Where
- Australia
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Neuroscience Research Australia
Baker Gordon Syndrome, Rare Neurodevelopmental Conditions
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity.
- Conditions
- Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder
- Trial name
- NCT07329257
- Testing
- No Intervention: Observational Cohort
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Obesity and Obesity-related Medical Conditions, Cardiovascular Risk
Cardiometabolic Risk of Obese Subjects: Cross-sectional Study
experimental study with analysis on tissues. This study aims to study cardiometabolic risk from a genetic, clinical, instrumental and laboratory point of view in a population of subjects with obesity.
- Conditions
- Obesity and Obesity-related Medical Conditions, Cardiovascular Risk, Genetics
- Trial name
- MiRNome (NCT06714058)
- Where
- 2 sites in Italy
- Volunteers
- 240 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Cervix; Pregnancy, Inherited Genetic Conditions (Diagnosis)
Optimization of Cervical Collections in Pregnancy
Fetal cells are not easily obtained from pregnant patients; this curtails testing to assess the health of the fetus and the mother.
- Conditions
- Cervix; Pregnancy, Inherited Genetic Conditions (Diagnosis), Preeclampsia, Fetal Growth Retardation
- Trial name
- OCCP (NCT06323187)
- Testing
- Cervical Sampling
- Volunteers
- 2,600 people, healthy volunteers welcome
- Sponsor
- Dr. Sascha Drewlo