Clinical trials: Rare Disease
Parkinson Disease
Quantification Tools for a Novel Tau PET Marker in a Rare Neurological Disease: 18F-PI-2620 in Progressive Supranuclear Palsy
The aim of this clinical trial is to explore the potential of novel 2nd generation tau PET radiotracers as biomarkers in cases suggestive of progressive supranuclear palsy (PSP), an atypical form of parkinsonism.
- Trial name
- Quanti-TAU-PET (NCT07105384)
- Testing
- Radiotracer
- Where
- Spain
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- Fundacion Clinic per a la Recerca Biomédica
Rare Diseases
A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives
To collect, preserve, and distribute annotated leukopak biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and…
- Trial name
- NCT05794217
- Testing
- This is a non-interventional study
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences
Huntington Disease
A Study to Evaluate the Safety and Efficacy of PTC518 in Participants With Huntington's Disease (HD)
The primary goal of this study is to evaluate the safety and pharmacodynamic effects of PTC518 compared with placebo in participants with HD.
- Trial name
- NCT05358717
- Testing
- PTC518
- Where
- 28 sites in United States, Australia and 9 more
- Volunteers
- 159 people
- Sponsor
- Novartis Pharmaceuticals
Septic Shock
Diagnostic Study of Adrenal Cortical Function in Children With Septic Shock
OBJECTIVES: I. Examine adrenal cortical function and the incidence of adrenal dysfunction in children with septic shock. II. Examine the mortality, length of stay in the PICU, and incidence of multiorgan failure in children with…
- Trial name
- NCT00005890
- Testing
- corticotropin
- Where
- United States
- Volunteers
- 56 people
- Sponsor
- National Center for Research Resources (NCRR)
Genetic Disease, Neurologic Disorder
Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental Troubles
Patients with neurodevelopmental diseases and their families need to identify the genetic cause of the disease to allow for recognition of the disability, genetic counseling, and possible hope for participation in therapeutic…
- Conditions
- Genetic Disease, Neurologic Disorder, Developmental Delay Disorder, Growth Disorders
- Trial name
- HiFi-NDD (NCT05643274)
- Where
- 5 sites in France
- Volunteers
- 10 people
- Sponsor
- Nantes University Hospital
Thrombocytopenia
Perioperative Eltrombopag in Patients With Inherited Thrombocytopenia
The objective of the study is to estimate the response to eltrombopag based on platelet count increase above a safety level of 80 G/L and lack of requirement for pre-, per- and post-operative administration of platelet…
- Trial name
- ELPOT (NCT03638817)
- Testing
- Eltrombopag
- Where
- 25 sites in France
- Volunteers
- 13 people
- Sponsor
- University Hospital, Toulouse
Telangiectasia, Hereditary Hemorrhagic
Studies of Hereditary Hemorrhagic Telangiectasia
OBJECTIVES: I. Examine screening modalities for pulmonary vascular arteriovenous malformation (PAVM) in individuals with endoglin mutations. II.
- Trial name
- NCT00004648
- Volunteers
- 65 people
- Sponsor
- National Center for Research Resources (NCRR)
Genitourinary Cancer, Adrenocortical Carcinoma
Nivolumab Combined With Ipilimumab for Patients With Advanced Rare Genitourinary Tumors
This research study is studying a combination of drugs as a possible treatment for rare genitourinary malignancies among four cohorts, bladder or upper tract carcinoma with variant histology, adrenocortical carcinoma, other rare…
- Conditions
- Genitourinary Cancer, Adrenocortical Carcinoma, Non-urothelial Bladder, Non-urothelial Upper Tract
- Trial name
- NCT03333616
- Testing
- Ipilimumab, Nivolumab
- Where
- 6 sites in United States
- Volunteers
- 100 people
- Sponsor
- Dana-Farber Cancer Institute
Undiagnosed Disease, Rare Diseases
Rare and Undiagnosed Disease Research Biorepository
This research study is being done to find markers and identify causes of rare and undiagnosed diseases by analyzing patient's DNA (i.e., genetic material), RNA, plasma, urine, tissues, or other samples that could be informative…
- Trial name
- PRaUD (NCT04703179)
- Testing
- Genetic test evaluation
- Where
- 3 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Rare Diseases
NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants
Prospective, multi-site, study to evaluate the clinical utility of cWGS in a proband. One group will receive cWGS and a clinical report approximately 15 days after blood samples are received, while the other group will continue…
- Trial name
- NICU-Seq (NCT03290469)
- Testing
- clinical whole genome sequencing (cWGS)
- Where
- 5 sites in United States
- Volunteers
- 355 people
- Sponsor
- Illumina, Inc.
Cystic Fibrosis
Study of Uridine Triphosphate (UTP) as an Aerosol Spray for Cystic Fibrosis
OBJECTIVES: I. Determine the stability of uridine triphosphate (UTP) and examine the metabolism of exogenous nucleotides on airway epithelial surfaces in patients with cystic fibrosis. II.
- Trial name
- NCT00004705
- Testing
- amiloride, uridine
- Sponsor
- FDA Office of Orphan Products Development
Paralysis, Hyperkalemic Periodic, Hypokalemic Periodic Paralysis
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders
OBJECTIVES: I. Assess the efficacy of dichlorphenamide in the treatment of episodic weakness attacks in patients with hyperkalemic periodic paralysis, paramyotonia congenita with periodic paralysis, and hypokalemic periodic…
- Conditions
- Paralysis, Hyperkalemic Periodic, Hypokalemic Periodic Paralysis, Paramyotonia Congenita
- Trial name
- NCT00004802
- Testing
- dichlorphenamide
- Volunteers
- 64 people
- Sponsor
- National Center for Research Resources (NCRR)
Diabetes Mellitus, Diabetes Mellitus Progression
Rare and Atypical Diabetes Network
RADIANT is a network of 14 clinical sites and several laboratories dedicated to the study of atypical diabetes. The objective of this study is to define new forms of diabetes and the unique mechanisms underlying these forms of…
- Conditions
- Diabetes Mellitus, Diabetes Mellitus Progression, Glucose Intolerance, Glucose Metabolism Disorders
- Trial name
- RADIANT (NCT05544266)
- Where
- 13 sites in United States
- Volunteers
- 2,000 people
- Sponsor
- University of South Florida
Tyrosinemia, Type I, Tyrosinemia, Type II
Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of Zero minis, a range of protein substitute tablets for use in the dietary management of children with either TYROSINAEMIA…
- Conditions
- Tyrosinemia, Type I, Tyrosinemia, Type II, Tyrosinemia, Type III, Alkaptonuria
- Trial name
- ZeroMinisMR (NCT06298292)
- Testing
- Zero minis (range of protein substitutes in tablet form)
- Volunteers
- 15 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Gaucher Disease
Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)
This is a three-phase study comprising both retrospective and prospective components, as follows: Phase I: Deployment of Rare Disease Algorithm: A diagnostic screening algorithm was developed using advanced analytical methods to…
- Trial name
- NCT05908656
- Testing
- Investigational procedure
- Where
- 3 sites in United States
- Volunteers
- 13 people
- Sponsor
- Sanofi
Hemolytic Uremic Syndrome
Phase III Randomized Study of SYNSORB Pk in Children With E. Coli-Associated Hemolytic Uremic Syndrome
OBJECTIVES: I. Determine the effect of SYNSORB Pk therapy on mortality and frequency of severe extrarenal complications observed in children with acute stage E. coli-associated hemolytic uremic syndrome. II.
- Trial name
- NCT00004465
- Testing
- SYNSORB Pk
- Where
- 27 sites in United States, Canada
- Volunteers
- 145 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
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
Advanced or Metastatic NSCLC Harboring Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion (ex20ins) Mutations
A Study of Zipalertinib in Patients With Advanced Non-Small Cell Lung Cancer With Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertions or Other Uncommon Mutation.
The purpose of this study is to evaluate the safety, efficacy and pharmacokinetics (PK) of zipalertinib in participants with locally advanced or metastatic Non-Small Cell Lung Cancer (NSCLC) harboring EGFR ex20ins mutations and…
- Trial name
- REZILIENT2 (NCT05967689)
- Testing
- TAS6417, CYP Cocktail, Transporter Cocktail
- Where
- 80 sites in United States, Australia and 10 more
- Volunteers
- 220 people
- Sponsor
- Taiho Oncology, Inc.
High Grade Meningioma, Ependymoma
Rare CNS Tumors Outcomes &Risk
Background: Primary tumors of the brain and spine are those that start in the brain or spine. These tumors are rare, accounting for <2% of all cancers diagnosed in the United States.
- Conditions
- High Grade Meningioma, Ependymoma, Medulloblastoma, PNET
- Trial name
- NCT03251989
- Where
- United States
- Volunteers
- 326 people
- Sponsor
- National Cancer Institute (NCI)
Adrenoleukodystrophy
Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the efficacy of interferon beta and thalidomide in male patients with adrenoleukodystrophy who show evidence of brain inflammatory response and are receiving concurrent glyceryl trierucate and glyceryl…
- Trial name
- NCT00004450
- Testing
- glyceryl trierucate, glyceryl trioleate, interferon beta
- Volunteers
- 60 people
- Sponsor
- FDA Office of Orphan Products Development
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