Clinical trials: Rare Disease
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)
Genetic Disease
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown.
- Trial name
- NCT02450851
- Where
- 33 sites in United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Undiagnosed Diseases, Rare Diseases
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
Background: Genetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist.
- Trial name
- NCT06595940
- Where
- Mauritius
- Volunteers
- 400 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Undiagnosed Diseases, Cardiovascular Disease
Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)
Background: Studies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases.
- Trial name
- NCT02543996
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Pregnancy Related
Odevixibat Pregnancy and Lactation Surveillance Program: A Study to Evaluate the Safety of Odevixibat During Pregnancy and/or Lactation
The participants of this study will be of any age who are exposed to at least 1 dose of odevixibat at any time during pregnancy (from 1 day prior to conception to pregnancy outcome) and/or at any time during lactation (up to 12…
- Trial name
- NCT06258902
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Ipsen
Pregnancy Related
Elafibranor Pregnancy Surveillance Program: A Study to Evaluate the Safety of Elafibranor During Pregnancy
The study will include participants who were exposed to at least one dose of elafibranor either within the three weeks before conception or at any time during pregnancy (based on estimated last menstrual period [LMP]).
- Trial name
- NCT07556913
- Testing
- Elafibranor
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Ipsen
Cardiovascular Diseases, Endocrinology
BEhavioral and Adherence Model for Improving Quality, Health Outcomes and Cost-Effectiveness of healthcaRe
Lack of adherence to treatment is a widespread issue worldwide, which leads to higher healthcare utilisation rates and even premature death.
- Conditions
- Cardiovascular Diseases, Endocrinology, Inmunology, Neurology
- Trial name
- BEAMER (NCT06856902)
- Testing
- B-COMPASS implementation
- Where
- 10 sites in Germany, Italy and 6 more
- Volunteers
- 6,190 people
- Sponsor
- Technical University of Madrid
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
Chronic Granulomatous Disease
Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995
This study is a longitudinal and cross-sectional evaluation of patients with Chronic Granulomatous Disease (CGD) who received or are receiving hematopoietic cell transplantation (HCT) for their disease under a variety of…
- Trial name
- NCT02116764
- Where
- United States
- Volunteers
- 137 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Rare Diseases, Marfan Syndrome
Analysis of Muscular Properties in Patients With MFS and EDS
The goal of this observational study is to learn and assess muscle morphological and electromechanical properties in patients affected with Marfan syndrome (MFS) and Ehlers Danlos syndrome (EDS).
- Conditions
- Rare Diseases, Marfan Syndrome, Ehlers-Danlos Syndrome
- Trial name
- MUSCLE (NCT05720923)
- Testing
- Analysis with Ergometer
- Where
- Italy
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Rare Genetic Disease
Exome and Genome Sequencing of DNA Samples, as Required by Specific Research Projects and the Diagnostic Needs of the Gaslini Institute, to Be Performed Within the Framework of the "Joint Genomic Lab" Established Between IGG and IIT
The study involves two centers, only one of which recruits clinical cases. It is funded by the two participating centers according to their respective areas of expertise, in particular through research projects that will make use…
- Trial name
- JL-seq (NCT07877688)
- Where
- Italy
- Volunteers
- 1,950 people
- Sponsor
- Istituto Giannina Gaslini
Spinal Muscular Atrophy
A Real-World Medical Chart Review of Spinal Muscular Atrophy Patients Treated With Onasemnogene Abeparvovec in Saudi Arabia
The aim of this retrospective medical chart review is to describe the clinical outcomes, clinical characteristics, and demographics of patients with spinal muscular atrophy (SMA) type 1 treated with onasemnogene abeparvovec (OA)…
- Trial name
- SMA-REAL (NCT07737756)
- Volunteers
- 6 people
- Sponsor
- Novartis Pharmaceuticals
Rare Diseases, Generalized Myasthenia Gravis (gMG)
Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in Russia
This is a multicenter, non-interventional, retrospective-prospective, single-arm observational study designed to describe real-world treatment approaches and clinical outcomes among adults with acetylcholine receptor (AChR)…
- Trial name
- NCT07247279
- Where
- 7 sites in Russia
- Volunteers
- 450 people
- Sponsor
- AstraZeneca
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
Arterial Calcification Due to Deficiency of CD73
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching…
- Trial name
- NCT00369421
- Where
- United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
Pompe Disease
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the long-term safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07750990
- Testing
- S-606001, ERT
- Volunteers
- 60 people
- Sponsor
- Shionogi
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)
Leukemia, Hematologic Malignancy
Solving Riddles Through Sequencing
During the last decades hematologists have excelled at improving and refining the classification, diagnosis, and thus ultimately the therapeutic decision-making process for their patients.
- Conditions
- Leukemia, Hematologic Malignancy, Rare Diseases, Refractory Leukemia
- Trial name
- SIRIUS (NCT05046444)
- Testing
- Next Generation Sequencing
- Where
- Germany
- Volunteers
- 100 people
- Sponsor
- Munich Leukemia Laboratory
Epilepsy, Rare Diseases
Cannabidiol in Children and Young Adults With Rare Disease-associated Severe Epilepsy
This is a pilot, open-label, phase II study. The main objective of the study is to demonstrate that Cannabidiol (CBD), used in addition to current anti-seizure medications (ASMs) reduces the number and/or severity of motor…
- Trial name
- CBD_RE (NCT05803434)
- Testing
- Cannabidiol oral solution
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- Meyer Children's Hospital IRCCS