Clinical trials: Rare Disease
Cystic Fibrosis, Atypical Mycobacterium Infection
Multicenter Study of Nontuberculous Mycobacteria in Cystic Fibrosis Patients
OBJECTIVES: I. Determine the prevalence of nontuberculous mycobacteria in sputum cultures from patients with cystic fibrosis. II. Compare the clinical course of patients with negative versus positive cultures.
- Trial name
- NCT00004296
- Volunteers
- 1,000 people
- Sponsor
- National Center for Research Resources (NCRR)
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I
Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
PBGM01 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues.
- Conditions
- GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
- Trial name
- Imagine-1 (NCT04713475)
- Testing
- PBGM01
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 26 people
- Sponsor
- Gemma Biotherapeutics
Pseudohypoparathyroidism
Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism
OBJECTIVES: Determine the relationship between serum calcium concentrations and parathyroid hormone secretion in patients with pseudohypoparathyroidism.
- Trial name
- NCT00004661
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Rare Diseases, Congenital Diaphragmatic Hernia
Intact Cord Resuscitation in CDH
Isolated CDH is a rare disease (1/3500) and displays a wide range of severity and outcome. Despite attempts to standardize the management of this disease at birth and during the first months of life, the mortality varies from 20…
- Trial name
- CHIC (NCT04429750)
- Testing
- Immediate umbilical cord clamping, intact cord resuscitation
- Where
- 3 sites in France
- Volunteers
- 180 people
- Sponsor
- University Hospital, Lille
Angelman Syndrome
Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome
RANDOMIZED CLINICAL TRIAL, PLACEBO COMPARED TO EVALUATE THE EFFICACY AND SAFETY OF MINOCYCLINE IN ANGELMAN SYNDROME (A-MANECE STUDY)
- Trial name
- A-MANECE (NCT02056665)
- Testing
- MINOCYCLINE
- Where
- Spain
- Volunteers
- 32 people
- Sponsor
- Puerta de Hierro University Hospital
Respiration Disorders
Randomized Study of Propofol Versus Fentanyl and Midazolam in Pediatric Patients Requiring Mechanical Ventilation and Sedation Therapy
OBJECTIVES: I. Assess the degree of amnesia afforded by study sedatives relative to the patient's intensive care unit experiences. II.
- Trial name
- NCT00004424
- Testing
- fentanyl, Midazolam, propofol
- Volunteers
- 120 people
- Sponsor
- FDA Office of Orphan Products Development
Chronic Kidney Diseases
Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
Chronic kidney disease (CKD) affects about 10% of the world population, with high morbidity and mortality. Genetic kidney diseases are increasingly recognized across all age groups and represent over 20% of all the causes of CKD.
- Trial name
- NCT06324136
- Testing
- Implementation of the diagnostic algorithm
- Where
- 3 sites in Italy
- Volunteers
- 300 people
- Sponsor
- Meyer Children's Hospital IRCCS
Citrate Transporter Deficiency, Epilepsy
SLC13A5 Deficiency Natural History Study - Remote Only
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life.
- Conditions
- Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders
- Trial name
- NCT04681781
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- TESS Research Foundation
Fragile X Syndrome (FXS), Creatine Transporter Deficiency
Optical Imaging in X-linked Disorders.
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability.
- Trial name
- IMAGINER (NCT06868979)
- Testing
- Clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- France
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Rare Diseases, Genetic Predisposition to Disease
Genetic Causes of Discrepant Clinic in Monogenic Twins
In the DISCO-TWIN study (prospective, open-label molecular-genetic study), twin pairs with one healthy and one affected twin with molecularly undiagnosed diseases will be analysed by means of omics technologies and/ or…
- Trial name
- DISCO-TWIN (NCT04046796)
- Testing
- NGS Diagnostic
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- University Hospital Tuebingen
Von Willebrand's Disease
Phase I Study of Human Von Willebrand Factor for Von Willebrand's Disease
OBJECTIVES: I. Evaluate the effect of a new von Willebrand factor concentrate on bleeding time, in vivo recovery, and circulating half-life of the infused factor in patients with von Willebrand's disease. II.
- Trial name
- NCT00004667
- Testing
- von Willebrand factor
- Volunteers
- 10 people
- Sponsor
- National Center for Research Resources (NCRR)
Microvillus Inclusion Disease, Congenital Disorders
Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Microvillus Inclusion Disease (MVID)
A study that will evaluate the safety, tolerability and preliminary efficacy of multiple ascending doses of crofelemer, compared to placebo, using a randomized cross-over design within each dose level, when administered to…
- Conditions
- Microvillus Inclusion Disease, Congenital Disorders, Rare Diseases
- Trial name
- NCT06721871
- Testing
- Crofelemer Powder for Oral Solution
- Where
- 3 sites in United States, Italy and 1 more
- Volunteers
- 6 people
- Sponsor
- Napo Pharmaceuticals, Inc.
Systemic Lupus Erythematosus
Randomized Study of Oral Contraceptives or Hormone Replacement Therapy in Women With Systemic Lupus Erythematosus
OBJECTIVES: I. Determine the effect of oral contraceptives containing low-dose synthetic estrogens and progestins on disease activity in premenopausal women with inactive, stable, or moderate systemic lupus erythematosus (SLE).
- Trial name
- NCT00006133
- Testing
- estradiol, ethinyl estradiol, medroxyprogesterone
- Where
- 17 sites in United States
- Volunteers
- 970 people
- Sponsor
- National Center for Research Resources (NCRR)
Dysmorphia, Orphan Diseases
Automatic Phenotyping of Patients on 2D Photography
The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs.
- Conditions
- Dysmorphia, Orphan Diseases, Dysmorphies Craniofaciales
- Trial name
- AIDY2 (NCT06219421)
- Testing
- Clinical data reuse
- Where
- France
- Volunteers
- 22,000 people
- Sponsor
- Imagine Institute
Sudden Infant Death Syndrome, Apnea
Incidence and Severity of Cardiorespiratory Events in Infants at Increased Epidemiological Risk for Sudden Infant Death Syndrome (SIDS)
OBJECTIVES: I. Assess and compare the incidence and severity of cardiorespiratory events documented by home monitoring in infants at increased epidemiological risk for sudden infant death syndrome (SIDS). II.
- Trial name
- NCT00004392
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Hyperinsulinism
Phase II Long Term, Randomized Study of Recombinant Human Insulin-like Growth Factor I in Children With Hyperinsulinism
OBJECTIVES: Evaluate the safety and efficacy of long term recombinant human insulin-like growth factor I in children with hyperinsulinism.
- Trial name
- NCT00004700
- Testing
- insulin-like growth factor I
- Volunteers
- 16 people
- Sponsor
- Children's Hospital of Philadelphia
Familial Hypercholesterolemia
Phase I Study of Ex Vivo Liver-Directed Gene Therapy for Familial Hypercholesterolemia
OBJECTIVES: I. Develop an approach for treating patients with homozygous familial hypercholesterolemia using gene therapy with autologous hepatocytes transduced with a normal low-density lipoprotein receptor gene.
- Trial name
- NCT00004809
- Testing
- gene therapy
- Volunteers
- 5 people
- Sponsor
- National Center for Research Resources (NCRR)
Rare Disorders, Rare Diseases
AI-assisted Rare Disease Diagnosis
A multicentre randomised controlled trial evaluating whether a rare-disease diagnostic large language model can improve diagnostic quality, efficiency, and health-economic outcomes for physicians managing patients with suspected…
- Trial name
- NCT07650799
- Testing
- AI system
- Where
- 12 sites in China
- Volunteers
- 1,056 people
- Sponsor
- Peking Union Medical College Hospital
Adrenal Cortical Carcinoma, Alveolar Soft Part Sarcoma
Cabozantinib-S-Malate in Treating Younger Patients With Recurrent, Refractory, or Newly Diagnosed Sarcomas, Wilms Tumor, or Other Rare Tumors
This phase II trial studies how well cabozantinib-s-malate works in treating younger patients with sarcomas, Wilms tumor, or other rare tumors that have come back, do not respond to therapy, or are newly diagnosed.
- Conditions
- Adrenal Cortical Carcinoma, Alveolar Soft Part Sarcoma, Central Nervous System Neoplasm, Childhood Clear Cell Sarcoma of Soft Tissue
- Trial name
- NCT02867592
- Testing
- Cabozantinib, Cabozantinib S-malate, Pharmacological Study
- Where
- 142 sites in United States
- Volunteers
- 109 people
- Sponsor
- National Cancer Institute (NCI)
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