Clinical trials: Rare Diseases
Rare Diseases
Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas
The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resources, especially along the Texas-Mexico border.
- Trial name
- MAGNET (NCT07102966)
- Testing
- Rapid whole genome sequencing
- Where
- United States
- Volunteers
- 410 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Undiagnosed Diseases, Genetic Diseases
The Mayo Clinic Rare and Undiagnosed Disease Hackathon
The purpose of this study is to create a Mayo Clinic biospecimen and data repository to support the evaluation of patients with rare and undiagnosed diseases through a structured, multidisciplinary diagnostic program.
- Conditions
- Undiagnosed Diseases, Genetic Diseases, Rare Diseases
- Trial name
- NCT07714161
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Mayo Clinic
Genetic and Inflammatory Polyneuropathies
Clinical, Electrophysiological and Genetic Characteristics of Hereditary and Inflammatory Polyneuropathies in France
To describe the clinical, electrophysiological, and genetic characteristics of patients with genetic and inflammatory polyneuropathies in France.
- Trial name
- POLYFRA (NCT07851844)
- Where
- 26 sites in France
- Volunteers
- 1,000 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Amyotrophic Lateral Sclerosis
RAPA-501 Therapy for ALS
RAPA-501-ALS is a phase 2/3 expansion cohort study of RAPA-501 autologous hybrid TREG/Th2 cells in patients living with amyotrophic lateral sclerosis (pwALS).
- Trial name
- NCT04220190
- Testing
- RAPA-501 Autologous T stem cells
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- Rapa Therapeutics LLC
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.
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
Rare Diseases
DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic Features of Rare Mendelian Disorders
There are more than 7000 known genetic disorders, and the number of affected is estimated to be about 6-10% of the population. Around 30 to 40% of genetic disorders have physical changes in the face and skull such as Down's…
- Trial name
- NCT05913843
- Testing
- Take photo
- Where
- Taiwan
- Volunteers
- 100 people
- Sponsor
- National Taiwan University Hospital
Alport Syndrome
Eurbio-Alport (RaDiCo Cohort) (RaDiCo Eurbio-Alport)
Alport syndrome is a rare, inherited condition characterized by a combination of glomerular nephropathy progressing to kidney failure, deafness, and eye involvement.
- Trial name
- Eurbio-Alport (NCT05927467)
- Where
- France
- Volunteers
- 700 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
X-linked Hypophosphatemia
A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
A first-in-human study of KK8123 in adults with X-linked hypophosphatemia.
- Trial name
- NCT06525636
- Testing
- KK8123
- Where
- 10 sites in United States, Canada and 3 more
- Volunteers
- 39 people
- Sponsor
- Kyowa Kirin Co., Ltd.
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)
C3 Glomerulopathy (C3G), Immune Complex Membranoproliferative Glomerulonephritis (IC-MPGN)
Real-World Effectiveness and Safety of Pegcetacoplan in Patients With C3G or IC-MPG: A Multi-Country Study
The purpose of this study is to evaluate the effectiveness and safety of Pegcetacoplan in patients with C3G and primary IC-MPGN in the real-world setting.
- Trial name
- NCT07746895
- Testing
- Pegcetacoplan
- Where
- 101 sites in Australia, Austria and 12 more
- Volunteers
- 150 people
- Sponsor
- Swedish Orphan Biovitrum
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
Friedreich Ataxia
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
This project is a global, multicenter, prospective, longitudinal, observational natural history study that can be used to understand the disease progression and support the development of safe and effective drugs and biological…
- Trial name
- UNIFAI (NCT06016946)
- Where
- 34 sites in United States, Australia and 15 more
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Friedreich's Ataxia Research Alliance
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)
Creation of an Italian Network of Biobanks of Rare Diseases
ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria
Rare diseases (RDs) have been defined by the European Union (EU) as life-threatening or chronically debilitating conditions affecting less than 1 person in 2000.
- Trial name
- SATELLITES (NCT06782230)
- Where
- Italy
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Fabry Disease
Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF)
Fabry disease is a rare, inherited condition that can affect multiple organs, including the heart, kidneys, and nervous system. Many people with Fabry disease live for a period of time without receiving disease-specific…
- Trial name
- QoLUF (NCT07560956)
- Testing
- Qualitative Interview
- Where
- Sweden
- Volunteers
- 35 people
- Sponsor
- Vastra Gotaland Region
Pompe Disease
A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07787650
- Testing
- S-606001
- Volunteers
- 15 people
- Sponsor
- Shionogi
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
Astroblastoma, BCOR ITD Sarcoma
International Rare Brain Tumor Registry
The objective of the International Rare Brain Tumor Registry (IRBTR) is to better understand rare brain tumors through the collection of biospecimens and matched clinical data of children, adolescents, and young adult patients…
- Conditions
- Astroblastoma, BCOR ITD Sarcoma, CNS Sarcoma, Unclassified Tumor, Malignant
- Trial name
- IRBTR (NCT05697874)
- Where
- 13 sites in United States, Brazil and 2 more
- Volunteers
- 5,800 people
- Sponsor
- Children's National Research Institute