Clinical trials: Rare Diseases
SARS-COV2 Virus
SARS-COV2 Pandemic Serosurvey in a Rare Disease Population
Background: The SARS-COV2 outbreak has had a major impact on the economy and society. Researchers want to learn how widespread the infection is in the rare disease community.
- Trial name
- NCT04609085
- Where
- 2 sites in United States
- Volunteers
- 730 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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)
Non Small Cell Lung Cancer
A Retrospective Study: Evaluation of the Efficacy of Immunotherapy With Rare Mutations in Non-small Cell Lung Cancer
In advanced non-small cell lung cancer, there will be some rare mutations, such as ALK, KRAS, etc. The efficacy of these immunotherapies on these different rare mutations has not been reported.
- Trial name
- NCT04777175
- Testing
- immunity therapy
- Where
- 2 sites in China
- Volunteers
- 186 people
- Sponsor
- Yongchang Zhang
Anxiety Disorder, Panic Disorder
Phase II Double-Blind, Placebo-Controlled Study of the Reinforcing Effects of Alprazolam in Patients With Anxiety
OBJECTIVES: I. Determine whether the benzodiazepine alprazolam reinforces self-medication behavior in anxious patients with varying histories of using other drugs. II.
- Trial name
- NCT00004373
- Testing
- alprazolam
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- National Institute on Drug Abuse (NIDA)
Pyruvate Dehydrogenase Complex Deficiency Disease
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Children and adults with pyruvate dehydrogenase complex deficiency (PDCD) are participating in a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these…
- Trial name
- NCT03056794
- Testing
- No intervention
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- University of Pittsburgh
Pulmonary Arterial Hypertension
Pharmacokinetics, Safety and Efficacy of BIA 5-1058 in PAH (Zamicastat)
This Study evaluates the pharmacokinetic (PK) profile of different zamicastat doses in Pulmonary arterial hypertension (PAH) patients to find the most promising therapeutic dosage range for the treatment of PAH disease
- Trial name
- NCT04316143
- Testing
- Oral zamicastat
- Where
- 13 sites in Austria, Germany and 5 more
- Volunteers
- 33 people
- Sponsor
- Bial - Portela C S.A.
Lung Neoplasms
Efficacy of EGFR TKIs in Patients With Rare EGFR-mutated NSCLC
Lung cancer is the leading cause of cancer-related death worldwide and is well known to remain a major health problem. Non-small-cell lung cancer (NSCLC) constitutes more than 80% of all the cases of lung cancer.
- Trial name
- NCT01775943
- Where
- South Korea
- Volunteers
- 90 people
- Sponsor
- Ulsan University Hospital
Lactic Acidosis
Phase III Randomized Study of Sodium Dichloroacetate in Children With Congenital Lactic Acidosis
OBJECTIVES: I. Compare the safety of sodium dichloroacetate (DCA) vs placebo in children with congenital lactic acidosis. II. Determine the quality of life of these patients. III.
- Trial name
- NCT00004490
- Testing
- sodium dichloroacetate
- Volunteers
- 45 people
- Sponsor
- University of Florida
Central Nervous System Neoplasms, Glioblastoma
Phase I Study of Oral ONC206 in Recurrent and Rare Primary Central Nervous System Neoplasms
The primary objective of this Phase 1, open-label, dose-escalation, and exploratory study is to evaluate the safety and tolerability profile (establish the maximum-tolerated dose) and evaluate the occurrence of dose-limiting…
- Conditions
- Central Nervous System Neoplasms, Glioblastoma, Gliosarcoma, Adult, Anaplastic Oligodendroglioma
- Trial name
- NCT04541082
- Testing
- ONC206
- Where
- United States
- Volunteers
- 102 people
- Sponsor
- Jazz Pharmaceuticals
Medulloblastoma
A Clinical and Molecular Risk-Directed Therapy for Newly Diagnosed Medulloblastoma
Historically, medulloblastoma treatment has been determined by the amount of leftover disease present after surgery, also known as clinical risk (standard vs. high risk).
- Trial name
- NCT01878617
- Testing
- Craniospinal Irradiation with boost to the primary tumor site, Cyclophosphamide, Cisplatin
- Where
- 23 sites in United States, Australia and 2 more
- Volunteers
- 660 people
- Sponsor
- St. Jude Children's Research Hospital
Medulloblastoma Recurrent, Ependymoma Recurrent
Antiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors
Patients with with recurrent or progressive medulloblastoma, ependymoma, atypical teratoid rhabdoid tumor (ATRT), and CNS tumors of various histologies have a very poor prognosis whether treated with conventional chemotherapy…
- Conditions
- Medulloblastoma Recurrent, Ependymoma Recurrent, ATRT Recurrent, Rare CNS Tumor Recurrent
- Trial name
- MEMMAT (NCT01356290)
- Testing
- Bevacizumab, Thalidomide, Celecoxib
- Where
- 22 sites in United States, Austria and 6 more
- Volunteers
- 232 people
- Sponsor
- Medical University of Vienna
Carcinoma, Renal Cell, Head and Neck Neoplasm
Secured Access to Nivolumab for Adult Patients With Selected Rare Cancer Types
This is a Phase 2, non-randomised, open-label, multicentric study to investigate the efficacy and safety of nivolumab monotherapy in 6 cohorts of patients with specific rare cancers who have unresectable locally advanced or…
- Conditions
- Carcinoma, Renal Cell, Head and Neck Neoplasm, Skin Neoplasms, Microsatellite Instability
- Trial name
- AcSé (NCT03012581)
- Testing
- Nivolumab
- Where
- France
- Volunteers
- 269 people
- Sponsor
- UNICANCER
Rare Diseases
Evaluate and Understand Preferences and Representations in Families of Patients With Regard to High-throughput Sequencing Technology for Diagnostic Purposes
After the use of DNA chips for diagnostic purposes, high-throughput sequencing (HTS) is transforming the field of developmental diseases, from fundamental research to care.
- Trial name
- NCT02814747
- Testing
- quantitive study: 500 patients likely to be candidates for HTS, qualitative study: 30 patients who have benefited from HTS
- Where
- France
- Volunteers
- 530 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Familial Lipomatosis, Very Rare Dermatologic Diseases
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
- Trial name
- DERMA-SEQ (NCT02509650)
- Where
- 2 sites in France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Lung Cancer (NSCLC), Lung Cancer (SCLC)
Pragmatic Analysis of Complex Radiotherapy Cases In Cancer of the Lung
This study focuses on improving care for people with lung cancer who face unusual or complex treatment situations.
- Trial name
- PRACTICAL (NCT07202260)
- Where
- United Kingdom
- Volunteers
- 80 people
- Sponsor
- The Christie NHS Foundation Trust
Late Infantile Neuronal Ceroid Lipofuscinosis, Batten Disease
AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis
The investigators propose to assess the safety and efficacy of a new administration method to deliver a biologic to children with a form of Batten disease using an experimental gene transfer procedure.
- Trial name
- NCT01414985
- Testing
- AAVrh.10CUCLN2
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Weill Medical College of Cornell University
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
Tolerance, Biopsy Site Itching
SAfety and TOlerance of the Biopsies in Auto-immune Rare dIseases
Biopsies are performed in several autoimmune diseases to diagnose or classify them Tolerance and information of the patients have been poorly evlauated our objective is to evaluate tolerance and information of the patients after…
- Trial name
- SATORI (NCT05022420)
- Where
- 8 sites in France
- Volunteers
- 505 people
- Sponsor
- University Hospital, Brest
Peripheral T-Cell Lymphoma
Prospective Observational International Registry of Patients With Newly Diagnosed Peripheral T Cell Lymphoma.
This study T-Cell Project 2.0 is based on the former International PTCL study designed by the International T-cell Non-Hodgkin's Lymphoma Study Group (T-Cell Project 1.0: Prospective Collection of Data in Patients With Peripheral…
- Trial name
- NCT03964480
- Where
- 6 sites in United States, Italy and 2 more
- Volunteers
- 1,000 people
- Sponsor
- Associazione Angela Serra per la ricerca sul cancro
CerebroSpinal Fluid (CSF) Leak
The Freiburg Registry on SpontanEous IntercrAnial Hypotension (SIH) & Post-duraL Puncture Headache (PDPH)
Spinal CSF leaks are considered as rare disease. They cause a variety of symptoms, mainly culminating in a chronic headache syndrome. Crucially, yet often disregarded, the disease holds the potential for cure.
- Trial name
- SEAL (NCT06711731)
- Where
- Germany
- Volunteers
- 2,000 people
- Sponsor
- University Hospital Freiburg