Clinical trials: Rare Disorders
Respiratory Distress Syndrome
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Antenatal Thyrotropin-Releasing Hormone in Pregnant Women With Threatened Premature Delivery
OBJECTIVES: I. Evaluate the effect of thyrotropin-releasing hormone (TRH) on the severity of initial lung disease and occurrence of chronic lung disease when given antenatally to women with threatened premature delivery. II.
- Trial name
- NCT00004778
- Testing
- betamethasone, dexamethasone, thyrotropin-releasing hormone
- Volunteers
- 1,090 people
- Sponsor
- National Center for Research Resources (NCRR)
Hemophilia, Factor XIII Deficiency
Clinical Trial of Factor XIII (FXIII) Concentrate
Congenital deficiency of Factor XIII is a rare but potentially life threatening disorder. It is inherited in an autosomal recessive fashion.
- Trial name
- NCT00640289
- Testing
- Fibrogammin P
- Where
- United States
- Volunteers
- 72 people
- Sponsor
- Children's Hospital of Orange County
Purpura, Schoenlein-Henoch, Graft Versus Host Disease
Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases
OBJECTIVES: I. Determine whether there is prompt engraftment after autologous peripheral blood stem cell transplantation using filgrastim (G-CSF) mobilization in patients with life threatening autoimmune diseases. II.
- Conditions
- Purpura, Schoenlein-Henoch, Graft Versus Host Disease, Anemia, Hemolytic, Autoimmune, Rheumatoid Arthritis
- Trial name
- NCT00006055
- Testing
- anti-thymocyte globulin, cyclophosphamide, cyclosporine
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Fairview University Medical Center
Leishmaniasis
Allopurinol, Glucantime, or Allopurinol/Glucantime for Cutaneous Leishmaniasis in Brazil
OBJECTIVE: Compare the efficacy and side effects of allopurinol versus glucantime versus allopurinol/glucantime in patients in Brazil with cutaneous leishmaniasis.
- Trial name
- NCT00004755
- Testing
- allopurinol, glucantime
- Volunteers
- 375 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Choroideremia
Natural Disease Progression in Participants With Choroideremia
The primary objective of this study is to quantify disease progression measured by best corrected visual acuity (BCVA) in the real-world setting among Choroideremia (CHM) participants.
- Trial name
- NCT04795206
- Testing
- No Intervention
- Where
- United States
- Volunteers
- 1,178 people
- Sponsor
- Biogen
CALFAN Syndrome
The Physiotherapy and Rehabilitation in Calfan Syndrome
Calfan syndrome is a progressive neurodegenerative systemic disease. It is a rare and difficult disease to diagnose due to the complex symptoms that occur over the years to postpartum.
- Trial name
- NCT04653909
- Testing
- Rehabilitation
- Where
- Turkey (Türkiye)
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Hasan Kalyoncu University
Alpha 1-Antitrypsin Deficiency
Study of Genotype and Phenotype in Patients With Alpha 1-Antitrypsin Deficiency
OBJECTIVES: I. Establish cell lines from patients with alpha 1-antitrypsin deficiency in order to examine genetic traits that predispose to liver injury.
- Trial name
- NCT00005098
- Where
- United States
- Volunteers
- 160 people
- Sponsor
- National Center for Research Resources (NCRR)
MYT1L Syndrome
MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder
MYT1L syndrome is a rare genetic syndrome, recently described in 2011, with paediatric onset, responsible for a neurodevelopmental disorder combining psychomotor retardation, learning difficulties and/or intellectual development…
- Trial name
- MYT1L (NCT07008612)
- Testing
- Patients with a genetic syndrome linked to the MYT1L gene, Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L
- Where
- France
- Volunteers
- 45 people
- Sponsor
- University Hospital, Rouen
Cataract, Artificial Intelligence
Validation of the Utility of Rare Disease Intelligence Platform
The prevention and treatment of diseases via artificial intelligence represents an ultimate goal in computational medicine. The artificial intelligence for systematic clinical application has not yet been successfully validated.
- Trial name
- NCT02748044
- Testing
- CC-Cruiser
- Where
- 4 sites in China
- Volunteers
- 53 people
- Sponsor
- Sun Yat-sen University
Osteoporosis
Study of Low Bone Mass in Premenopausal or Perimenopausal Women
OBJECTIVES: I. Determine the possible causes of bone loss in premenopausal or perimenopausal women.
- Trial name
- NCT00005101
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
Cancer, NGS
Performance Indicators and Impact on the Care Pathway of Sequencing on the SeqOIA and AURAGEN (Seqogen) Platforms for Oncology Patients
As part of the French Genomic Medicine Plan 2025 (FGM), the SeqOIA and AURAGEN platforms were selected to perform high-throughput genomic sequencing.
- Conditions
- Cancer, NGS, Tumor, RARE DISEASE
- Trial name
- SONCO (NCT07147465)
- Where
- 3 sites in France
- Volunteers
- 3,149 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Spinal Muscular Atrophy
Development of a Multidisciplinary Network for Clinical and Laboratory Research for SMA
The goal of this observational study is to to establish profiles of clinical progression in patients affected by the different types of SMA (type I, II and III) treated with the currently approved drugs using a structured battery…
- Trial name
- NCT05866939
- Volunteers
- 400 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis
Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases
This project aims to identify, through RNA-Seq technology, the genetic alterations underlying undiagnosed rare diseases in pediatric and adult patients with early onset and with negative WES.
- Conditions
- Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, Autosomal Dominant Polycystic Kidney, Healthy
- Trial name
- ANTHEM (NCT05996731)
- Testing
- Skin biopsy
- Where
- Italy
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
X-Linked Retinitis Pigmentosa
Natural History of the Progression of X-Linked Retinitis Pigmentosa
The objective of the study is to gain a better understanding of disease progression over time in participants with X-linked retinitis pigmentosa (XLRP).
- Trial name
- XOLARIS (NCT04926129)
- Testing
- Other: Assessments
- Where
- 22 sites in United States, Canada and 5 more
- Volunteers
- 201 people
- Sponsor
- NightstaRx Ltd, a Biogen Company
Epilepsy, Dravet Syndrome (DS)
A Study of Soticlestat in Adults and Children With Rare Epilepsies
The main aim is to assess the long-term safety and tolerability of soticlestat when used along with other anti-seizure treatment. Participants will receive soticlestat twice a day.
- Conditions
- Epilepsy, Dravet Syndrome (DS), Lennox-Gastaut Syndrome (LGS)
- Trial name
- Endymion 1 (NCT03635073)
- Testing
- Soticlestat
- Where
- 59 sites in United States, Australia and 6 more
- Volunteers
- 156 people
- Sponsor
- Takeda
Hereditary Transthyretin-mediated Amyloidosis With Polyneropathy, Pregnancy
TEGSEDI Pregnancy Surveillance Program
This is a worldwide safety surveillance study of pregnancy outcomes in women with hATTR-PN who may have been exposed or were not exposed to TEGSEDI prior to or during the pregnancy and of pediatric outcomes up to 1 year of age.
- Trial name
- NCT04270058
- Testing
- inotersen
- Volunteers
- 20 people
- Sponsor
- Akcea Therapeutics
Osteogenesis Imperfecta, Brittle Bone Disorders
Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2
The purpose of this study is to explore the patient perspective of disease burden in Osteogenesis Imperfecta (OI). Participants will complete a web-based survey of questions which are usually administered within the…
- Trial name
- NCT02793063
- Testing
- Web-based Survey
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- University of South Florida
Cushing's Syndrome
Study of Hypercortisolism in Cushing's Syndrome and Stress-Induced Pseudo-Cushing's Syndrome
OBJECTIVES: I. Determine whether Cushing's syndrome and stress-induced pseudo-Cushing's syndrome can be differentiated by evaluating endogenous corticotropin-releasing hormone activity.
- Trial name
- NCT00004343
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Rare Genetic Disorders
Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions
The objective of this protocol is to enable collection of biospecimens to facilitate current and future multidisciplinary research in rare genetic disorders and medical conditions.
- Trial name
- NCT02365376
- Where
- United States
- Sponsor
- BioMarin Pharmaceutical
Congenital Myopathies, Muscular Dystrophy
Personalized Disease Modeling for Rare Genetic Myopathies
The goal of this observational study is to learn how rare genetic muscle diseases change over time and whether muscle cells grown from a participant's blood can help researchers understand the disease.
- Trial name
- NCT07914049
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Akron Children's Hospital