Clinical trials: Rare Disorders
Ornithine Transcarbamylase Deficiency Disease
Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase Deficiency
OBJECTIVES: I. Determine the safety, feasibility, and potential efficacy of intravascular adenoviral vector mediated gene transfer in the liver in adults with partial ornithine transcarbamylase deficiency.
- Trial name
- NCT00004498
- Testing
- Adenoviral Vector-Mediated Gene Transfer
- Volunteers
- 21 people
- Sponsor
- University of Pennsylvania
Parkinson Disease
Phase II Double Blind Controlled Trial of Nigral Grafting in Patients With Parkinson's Disease
OBJECTIVES: I. Determine the effectiveness of fetal nigral transplantation in patients with Parkinson's disease.
- Trial name
- NCT00004387
- Testing
- fetal nigral transplantation
- Volunteers
- 34 people
- Sponsor
- National Center for Research Resources (NCRR)
Portal Hypertension, Hepatic Encephalopathy
Phase II Study of Lactulose and Circadian Rhythms in Patients With Cirrhosis
OBJECTIVES: I. Assess the effect of lactulose on the circadian rhythm of plasma melatonin in patients with subclinical hepatic encephalopathy. II.
- Conditions
- Portal Hypertension, Hepatic Encephalopathy, Cirrhosis
- Trial name
- NCT00004796
- Testing
- lactulose
- Volunteers
- 16 people
- Sponsor
- National Center for Research Resources (NCRR)
Bardet-Biedl Syndrome, POMC Deficiency Obesity
Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
This is a phase 3 open-label, clinical study to evaluate the efficacy, safety and tolerability of setmelanotide over 1 year of treatment, in pediatric participants aged 2 to <6 years with obesity due to either biallelic variants…
- Conditions
- Bardet-Biedl Syndrome, POMC Deficiency Obesity, PCSK1 Deficiency Obesity, LEPR Deficiency Obesity
- Trial name
- NCT04966741
- Testing
- Setmelanotide
- Where
- 6 sites in United States, Australia and 2 more
- Volunteers
- 12 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Still Disease, Still's Disease, Adult-Onset
Acostill ( RaDiCo Cohort) (RaDiCo Acostill)
Adult Onset Still Disease (AOSD) and Systemic onset Juvenile Idiopathic Arthritis (SoJIA) are two rare multifactorial diseases associated with systemic inflammation.
- Conditions
- Still Disease, Still's Disease, Adult-Onset, Still Disease, Juvenile Onset
- Trial name
- Acostill (NCT05927454)
- Where
- France
- Volunteers
- 500 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Rare Intellectual Disabilities
Multi-Omics and IPSCs to Improve Diagnosis of Rare Intellectual Disabilities
Background Genetic factors play a major role in intellectual disability (ID) but the underlying cause is not determined in many cases.
- Trial name
- MIDRID (NCT03635294)
- Testing
- Blood sample
- Where
- 6 sites in France
- Volunteers
- 7 people
- Sponsor
- University Hospital, Angers
Anaplastic Astrocytoma, Anaplastic Oligodendroglioma
Phase II Study of Carmustine, Streptozocin, and Mercaptopurine for Refractory or Recurrent Brain Neoplasms
OBJECTIVES: I. Assess the clinical response of patients with refractory or recurrent brain neoplasms treated with carmustine, streptozocin, and mercaptopurine.
- Conditions
- Anaplastic Astrocytoma, Anaplastic Oligodendroglioma, Mixed Gliomas, Glioblastoma Multiforme
- Trial name
- NCT00004688
- Testing
- carmustine, mercaptopurine, streptozocin
- Volunteers
- 35 people
- Sponsor
- Emory University
Cancer of Gastrointestinal Tract
Rare Subtypes of Gastrointestinal Cancers
A single-arm prospective observational translational study of biomarkers in patients receiving targeted treatment for rare subtypes of cancer of the Gastrointestinal Tract.
- Trial name
- NCT04838327
- Where
- Denmark
- Volunteers
- 130 people
- Sponsor
- Aarhus University Hospital
Systemic Lupus Erythematosus
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone in Women With Active Systemic Lupus Erythematosus
OBJECTIVES: I. Evaluate the safety and efficacy of synthetic dehydroepiandrosterone, GL701, in women with active systemic lupus erythematosus.
- Trial name
- NCT00004662
- Testing
- dehydroepiandrosterone
- Volunteers
- 300 people
- Sponsor
- National Center for Research Resources (NCRR)
Retinitis Pigmentosa
Study of Docosahexaenoic Acid (DHA) Supplementation in Patients With X-Linked Retinitis Pigmentosa
OBJECTIVES: I. Evaluate the potential of nutritional docosahexaenoic acid (DHA) supplementation to normalize the level of DHA in red blood cells, and to retard the progression of visual function loss in patients with early stage…
- Trial name
- NCT00004827
- Testing
- docosahexaenoic acid
- Volunteers
- 46 people
- Sponsor
- Retina Foundation of the Southwest
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
Neutropenia
International Registry for Severe Chronic Neutropenia
OBJECTIVES: I. Document the clinical course of severe chronic neutropenia (SCN). II. Monitor and assess long term safety of primary treatment in SCN patients in the United States, Canada, Europe, and Australia. III.
- Trial name
- NCT00004342
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 1,000 people
- Sponsor
- National Center for Research Resources (NCRR)
Skin Lesions, Melanocytic Nevi
Evaluating an Artificial Intelligence Tool to Help Primary Care Doctors Diagnose Skin Conditions.
This study aims to determine if an artificial intelligence (AI) medical device can help primary care doctors more accurately identify and manage various skin conditions.
- Conditions
- Skin Lesions, Melanocytic Nevi, Melanoma (Skin Cancer), Basal Cell Carcinoma of Skin
- Trial name
- LegitHealth PH (NCT07428941)
- Testing
- AI-based medical device for aided diagnosis in dermatological conditions
- Where
- Spain
- Volunteers
- 9 people
- Sponsor
- AI Labs Group S.L
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Dystonia
Deep Brain Stimulation in Treating Patients With Dystonia
RATIONALE: Dystonia is a disorder in which the muscles that control voluntary movements are persistently or intermittently contracted (not relaxed).
- Trial name
- NCT00004421
- Testing
- implanted pulse generator
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Neuromyelitis Optica, Neuromyelitis Optica Spectrum Disorder
The Longitudinal CONQUER Study of Rare Neuroimmunologic Disorders
This study seeks to determine the biologic causes of inflammation in patients with Transverse Myelitis (TM) Neuromyelitis Optica Spectrum Disorder (NMOSD) and related conditions.
- Conditions
- Neuromyelitis Optica, Neuromyelitis Optica Spectrum Disorder, Transverse Myelitis, Optic Neuritis
- Trial name
- NCT01623076
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
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
Non-Small Cell Lung Cancer
Atezolizumab in Advanced Non-small Cell Lung Cancer With Rare Histologies (CHANCE Trial)
This study is aimed to explore the antitumor activity and the safety profile of atezolizumab in pretreated advanced NSCLC patients with rare histological subtypes.
- Trial name
- CHANCE (NCT03976518)
- Testing
- Atezolizumab
- Where
- 10 sites in Italy
- Volunteers
- 43 people
- Sponsor
- Gruppo Oncologico Italiano di Ricerca Clinica
Intellectual Disabilities, Congenital Anomaly
Genome Medical Sequencing for Gene Discovery
Background: A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown.
- Conditions
- Intellectual Disabilities, Congenital Anomaly, Rare Disorders
- Trial name
- NCT01087320
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Amyloidosis
HIBA-Institutional Registry of Amyloidosis
1. Creating a population-based registry system Amyloidosis prospective epidemiological survey risk factors diagnosis prognosis treatment monitoring survival 2.
- Trial name
- RIA-HIBA (NCT01347047)
- Where
- Argentina
- Volunteers
- 500 people
- Sponsor
- Hospital Italiano de Buenos Aires