Clinical trials: Rare Disorders
Pulmonary Arterial Hypertension
Safety and Efficacy of BIA 5-1058 in PAH
This study aims to assess the safety and tolerability of the individual highest tolerated zamicastat doses, achieved in the study BIA-51058-201, during long-term treatment in Pulmonary Arterial Hypertension (PAH) disease.
- Trial name
- NCT06009185
- Testing
- Oral zamicastat
- Where
- 11 sites in Austria, Germany and 4 more
- Volunteers
- 20 people
- Sponsor
- Bial - Portela C S.A.
Niemann-Pick Disease Type C, GM2 Gangliosidosis
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
This is an open-label extension trial to evaluate the long-term safety and tolerability of nizubaglustat (AZ-3102) in participants with rare lysosomal disorders who have participated in a previous nizubaglustat trial and wish to…
- Conditions
- Niemann-Pick Disease Type C, GM2 Gangliosidosis, GM1 Gangliosidosis, Gaucher Disease Type 3
- Trial name
- HARBOR (NCT07885917)
- Testing
- AZ-3102
- Volunteers
- 218 people
- Sponsor
- Azafaros B.V.
Mucopolysaccharidosis II
Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome)
OBJECTIVES: I. Evaluate the safety and feasibility of treating mucopolysaccharidosis II (mild Hunter syndrome) by lymphocyte gene therapy. II.
- Trial name
- NCT00004454
- Testing
- lymphocyte gene therapy
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Fetal Malformation, Pregnancy Related
Realization of Sequencing of All Known Human Genes in Case of Detection of Cerebral, Renal or Ophthalmological Fetal Malformations During Pregnancy in Order to Make an Etiological Diagnosis and to Precise the Fetal Prognosis
Congenital malformations concern 3% of pregnancies; most of them can be seen during pregnancy. For some malformations, an invasive sample (trophoblast biopsy or amniocentesis) is proposed to search a chromosomal abnormality by…
- Conditions
- Fetal Malformation, Pregnancy Related, Rare Genetic Disease
- Trial name
- PRENATEX (NCT04406480)
- Testing
- CGH-array and exome sequencing
- Where
- 12 sites in France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Strasbourg, France
Prostate Cancer
Analysing Outcomes After Prostate Cancer Diagnosis and Treatment in Carriers of Rare Germline Mutations
GENPROS aims to analyse the outcomes of patients with rare gene mutations in the cancer predisposition genes, BRCA1, BRCA2, HOXB13, and Lynch Syndrome, after a diagnosis of and treatment for prostate cancer (PCa).
- Trial name
- GENPROS (NCT02705846)
- Testing
- Observation of treatment outcomes via Questionnaire
- Where
- United Kingdom
- Volunteers
- 4,260 people
- Sponsor
- Institute of Cancer Research, United Kingdom
Lymphoma, Adult T-Cell Leukemia/Lymphoma
BV-CHEP Chemotherapy for Adult T-cell Leukemia or Lymphoma
Adult T-cell leukemia/lymphoma (ATLL) is a rare form of cancer found mostly among people from the Caribbean islands, Western Africa, Brazil, Iran, and Japan.
- Conditions
- Lymphoma, Adult T-Cell Leukemia/Lymphoma, Lymphatic Diseases
- Trial name
- NCT03264131
- Testing
- Brentuximab Vedotin, CHEP
- Where
- 4 sites in United States
- Volunteers
- 16 people
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
Soft-tissue Sarcoma, Gastrointestinal Stromal Tumors
Observational Study, for Quality Assessment, of Sarcoma in European and Latin American Multidisciplinary NETWORK
Post-authorisation, multicentric, observational, retrospective and prospective study to assess quality of care of sarcoma patients in expert and non-expert centers by analysing correlation of quality items and outcomes such as…
- Conditions
- Soft-tissue Sarcoma, Gastrointestinal Stromal Tumors, Bone Sarcoma
- Trial name
- (SELNET) (NCT04181970)
- Testing
- Quality assessment
- Where
- 9 sites in Argentina, Brazil and 6 more
- Volunteers
- 5,000 people
- Sponsor
- Grupo Espanol de Investigacion en Sarcomas
Porphyria Cutanea Tarda
Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea Tarda
Porphyria cutanea tarda (PCT) is an iron-related disorder that responds to treatment by phlebotomy or low-dose hydroxychloroquine, but comparative data on these treatments are limited.
- Trial name
- NCT01573754
- Testing
- Hydroxychloroquine, Phlebotomy
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- The University of Texas Medical Branch, Galveston
Epilepsy, GLUT1DS1
Long-term Treatment With the Ketogenic Diet in Epilepsy
This study will provide a comprehensive assessment of long-term treatment with the ketogenic diet, a medical diet with high fat and low carbohydrate intake, focusing on safety and cardiovascular implications.
- Conditions
- Epilepsy, GLUT1DS1, PDH Deficiency
- Trial name
- NCT04646850
- Testing
- Color duplex ultrasound of the carotid arteries
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Oslo University Hospital
Osteoporosis, Thalassemia Major
Diagnostic Pilot Study of Dual Energy Absorptiometry in the Detection of Osteopenia or Osteoporosis in Patients With Thalassemia Major
OBJECTIVES: I. Determine the frequency and severity of osteopenia and osteoporosis in patients with thalassemia major who undergo dual energy x-ray absorptiometry, and correlate these findings with other relevant endocrinologic…
- Conditions
- Osteoporosis, Thalassemia Major, Osteopenia
- Trial name
- NCT00006138
- Volunteers
- 35 people
- Sponsor
- National Center for Research Resources (NCRR)
End Stage Renal Disease
Effect of Dialysis Dose and Membrane Flux in Maintenance Hemodialysis
OBJECTIVES: I. Evaluate whether hemodialysis providing a 2-pool, variable volume urea kinetic modelling value of 1.05 versus 1.45 reduces mortality and morbidity in patients with end stage renal disease. II.
- Trial name
- HEMO (NCT00004285)
- Testing
- Standard dose, low flux hemodialysis, Standard dose, high flux hemodialysis, High dose, low flux hemodialysis
- Where
- United States
- Volunteers
- 1,846 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
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)
Duchene Muscular Dystrophy
A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy
This is a prospective observational study conducted to evaluate safety, tolerability, and functional outcomes of patients with DMD newly initiating oral givinostat or having started therapy within 6 months as part of routine…
- Trial name
- PROVIDUS (NCT07127978)
- Where
- 9 sites in United States
- Volunteers
- 300 people
- Sponsor
- ITF Therapeutics LLC
Autistic Disorder
Randomized Study of Intensive One-on-one Behavioral Treatment for Preschool Aged Children With Autism
OBJECTIVES: I. Determine the effectiveness of intensive one-on-one behavioral treatment in the home or neighborhood compared with at home, individualized, parent training in preschool aged children with autism. II.
- Trial name
- NCT00004449
- Testing
- intensive one-on-one behavioral treatment, Individualized in home parent training
- Volunteers
- 102 people
- Sponsor
- University of California, Los Angeles
Mucopolysaccharidosis II, MPS II
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II
The purpose of the study is to evaluate the safety, tolerability and effect on leukocyte and plasma Iduronate 2-Sulfatase (IDS) enzyme activity of ascending doses of SB-913.
- Trial name
- NCT03041324
- Testing
- SB-913
- Where
- 5 sites in United States
- Volunteers
- 9 people
- Sponsor
- Sangamo Therapeutics
Advanced Or Metastatic Merkel Cell Carcinoma
Placebo-Controlled Trial of IFx-Hu2.0 Followed By Pembrolizumab In Checkpoint Inhibitor Naïve Participants With Advanced Or Metastatic Merkel Cell Carcinoma
This Phase 2/3, multicenter, randomized, double-blind, placebo-controlled trial will evaluate the Objective Response Rate (ORR) of IFx-Hu2.0 as an adjunctive therapy to pembrolizumab in adult participants (≥18 years) with…
- Trial name
- NCT06947928
- Testing
- IFx-Hu2.0, Pembrolizumab
- Where
- 18 sites in United States
- Volunteers
- 118 people
- Sponsor
- TuHURA Biosciences, Inc.
NSCLC, NSCLC Stage IV
Molecular Landscape Analysis and Clinical Implications for NSCLC Patients With Rare Mutations
Lung cancer is the most common primary cancer of the lung and is responsible for the ever increasing number of cancer-related deaths worldwide.
- Conditions
- NSCLC, NSCLC Stage IV, NSCLC, Recurrent
- Trial name
- NCT05701787
- Where
- 2 sites in China
- Volunteers
- 500 people
- Sponsor
- Shanghai Chest Hospital
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
Refractory Epilepsy in Children, Refractory Epilepsy
Cannabidiol as add-on Therapy for Children With Refractory Epilepsy (CBD-uN1que), a High-quality Individualized Approach: a Series of N-of-1 Trials
The goal of this clinical trial is to learn if cannabidiol ("CBD-oil") works to treat severe epilepsy in children. It will also learn about the safety of cannabidiol.
- Conditions
- Refractory Epilepsy in Children, Refractory Epilepsy, Epilepsy
- Trial name
- CBD-uN1que (NCT07668856)
- Testing
- Cannabidiol (CBD) oral solution
- Where
- Netherlands
- Volunteers
- 50 people
- Sponsor
- UMC Utrecht
Osteopetrosis
Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis
OBJECTIVES: I. Compare the rate of treatment failure in osteopetrosis patients receiving interferon gamma in combination with calcitriol to the rate of treatment failure in patients receiving calcitriol alone. II.
- Trial name
- NCT00004402
- Testing
- calcitriol, interferon gamma
- Volunteers
- 30 people
- Sponsor
- FDA Office of Orphan Products Development