Clinical trials: Multiple Anomalies
Healthy Volunteers, Sickle Cell Disease
A SAD/MAD to Assess the Safety, PK/PD of FT-4202 in Healthy Volunteers and Sickle Cell Disease Patients
FT-4202 is an oral small-molecule agonist of pyruvate kinase red blood cell isozyme (PKR) being developed for the treatment of hemolytic anemias.
- Trial name
- NCT03815695
- Where
- 18 sites in United States
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Forma Therapeutics, Inc.
Primary Ciliary Dyskinesia
Physiological Responses to Exercise Tests in Primary Ciliary Dyskinesia Compared With Healthy Individuals
The individuals with primary ciliary dyskinesia (PCD) have lower aerobic fitness and anaerobic performance than healthy individuals.
- Trial name
- NCT05712798
- Testing
- No intervention
- Where
- Turkey (Türkiye)
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Post-exercise Period, Ketosis
Acute Effects of Ketone Monoester Co-ingestion With Dietary Protein on Whole-body Phenylalanine Oxidation, Phenylalanine Retention, and Myofibrillar Protein Breakdown Following Resistance Exercise in Young Males.
The goal of this trial is to determine if ketone monoester supplementation in conjunction with protein supplementation in the post exercise period can augment whole-body protein metabolism following resistance exercise in young…
- Conditions
- Post-exercise Period, Ketosis, Resistance Exercise, Dietary Protein
- Trial name
- (KET-YOUNG-M) (NCT07884539)
- Testing
- Ketone Monoester + Dietary Protein (KET+PRO), Dietary Protein (PRO), Resistance Exercise
- Where
- Canada
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- McGill University
Male Contraception
Open Label, Dose Escalation, Repeat Dose Study Evaluating YCT-529 in Healthy Males
This is a Phase 1b/2a open-label, dose escalation 3 part-study, 28-day, 90-day or 180 day repeat dose study of YCT-529 in healthy males who have decided to have a vasectomy and are waiting for the procedure and for men who have…
- Trial name
- NCT06542237
- Testing
- YCT-529
- Where
- New Zealand
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- YourChoice Therapeutics, Inc.
Parkinson Disease, Multiple System Atrophy
Retinal Abnormalities as Biomarker of Disease Progression and Early Diagnosis of Parkinson Disease
To determine whether retinal abnormalities, as measured by high definition optical coherence tomography (HD-OCT) and visual electrophysiology techniques can be used as a clinical biomarker to monitor disease progression overtime…
- Conditions
- Parkinson Disease, Multiple System Atrophy, REM Sleep Behavior Disorder, Pure Autonomic Failure
- Trial name
- NCT02640339
- Where
- United States
- Volunteers
- 166 people, healthy volunteers welcome
- Sponsor
- NYU Langone Health
Polycystic Kidney Diseases
Outcome of Autosomal Dominant Polycystic Kidney Disease Patients on Peritoneal Dialysis: a National Retrospective Study Based on Two French Registries (the French Language Peritoneal Dialysis Registry and the French Renal Epidemiology and Information Network).
Pathological features of Autosomal Dominant Polycystic Kidney disease (ADPKD) include enlarged kidney volume, a higher frequency of digestive diverticulitis and abdominal wall hernias.
- Trial name
- ADPKDPD (NCT03948113)
- Testing
- Dialysis
- Where
- France
- Volunteers
- 17,350 people, healthy volunteers welcome
- Sponsor
- CHU de Reims
Stroke, Ischemic, Prolidase Deficiency
Prolidase Enzyme Activity in Stroke Patients
Stroke is a major cerebrovascular disease that causes significant burdens for human health and life, including high morbidity, mortality, and disability.
- Trial name
- NCT03334968
- Where
- Turkey (Türkiye)
- Volunteers
- 74 people, healthy volunteers welcome
- Sponsor
- Bezmialem Vakif University
Primary Hyperoxaluria
Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria
This is a double-blind, placebo-controlled, dose escalation trial of DCR-PHXC in Healthy Volunteers (HVs) and patients with Primary Hyperoxaluria (PH).
- Trial name
- NCT03392896
- Testing
- DCR-PHXC
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Atopic Dermatitis
A Study, Comparing Ruxolitinib Topical Cream 1.5% (Taro Pharmaceuticals U.S.A, Inc.) to OPZELURA (Ruxolitinib) Cream for the Treatment of Mild-to-Moderate Atopic Dermatitis.
To demonstrate the therapeutic equivalence and safety of Ruxolitinib Topical Cream 1.5% (Taro Pharmaceuticals U.S.A, Inc.) and OPZELURA (Ruxolitinib) Cream in the treatment of mild-to-moderate atopic dermatitis
- Trial name
- NCT06673654
- Testing
- Ruxolitinib Topical Cream 1.5%, OPZELURA (Ruxolitinib) Cream
- Where
- United States
- Volunteers
- 476 people, healthy volunteers welcome
- Sponsor
- Sun Pharmaceutical Industries, Inc.
Barth Syndrome
Resistance Exercise in Barth Syndrome
Barth syndrome (BTHS) is a disorder that is characterized by heart failure, exercise intolerance and skeletal muscle weakness. Preliminary evidence demonstrates that endurance exercise training does not significantly improve…
- Trial name
- NCT01629459
- Testing
- Resistance exercise and protein supplementation
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Human Immunodeficiency Virus Infection, Sexually Transmitted Diseases
Men Together Making a Difference: Reducing HIV/STD Risk Behavior Among South African Men
Sub-Saharan Africa has about 10% of the world's population, but was home to more than 60% of all people living with HIV in 2003.
- Trial name
- NCT01490359
- Testing
- Men Making a Difference HIV/STD Risk Reduction Intervention, Health Promotion Control
- Volunteers
- 1,181 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Charcot-Marie-Tooth Disease Type 1A
Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
This is a 2-year follow-up study of a cohort of 35 CMT1A patients and 20 healthy volunteers. The main objective is identifying prognostic markers for CMT1A using multi-omics analysis.
- Trial name
- CMT-MODS (NCT07049588)
- Testing
- Quantitative neuromuscular MRI, Skin biopsy, Clinical scores
- Where
- France
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- Assistance Publique Hopitaux De Marseille
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
X Linked Hypohidrotic Ectodermal Dysplasia
Phenotypic Properties in Individuals Affected With XLHED
The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED.
- Trial name
- ECP-014 (NCT01871714)
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Down Syndrome (Trisomy 21), Neuropsychology
Neuropsychological Evaluation in Intellectual Disability (ENDI)
The goal of this observational study is to evaluate the acceptability ofpatients with trisomy 21 (T21) to perform the full battery of ENDI neurospychological tests and each of the subsets.
- Conditions
- Down Syndrome (Trisomy 21), Neuropsychology, Cognitive Aging, Alzheimer Disease
- Trial name
- ENDI (NCT07047963)
- Testing
- ENDI (Neuropsychological Evaluation in Intellectual Disability)
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France
Down Syndrome
Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome
Heterokaryotypic monozygotic twins discordant for Down syndrome (DS) are very rare, with an incidence estimated to be less than 1 over 7,000,000 pregnancy in the general population.
- Trial name
- Colibri (NCT05767216)
- Testing
- Biological sampling
- Where
- France
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Institut Jerome Lejeune
X-linked Hypohidrotic Ectodermal Dysplasia
Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a complex genetic disorder characterized by lack of sweat, sebaceous, submucous, Meibomian and mammary glands, sparse hair and eyebrows, and oligodontia.
- Trial name
- NCT01308333
- Where
- Germany
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- University Hospital Erlangen
Healthy Volunteers, Down Syndrome
Leucettinib-21 First-in-Human Phase 1 in Healthy Volunteers and Subjects With Down Syndrome and Alzheimer's Disease
Leucettinib-21 First-in-Human Phase 1 Study in 6 Parts: Single (Part 1 and 5) and Multiple (Part 3 and 6) Ascending Doses, and Food-Effect (Part 2) in Healthy Subjects, and Single Dose (Part 4) in People with Down Syndrome (DS)…
- Conditions
- Healthy Volunteers, Down Syndrome, Alzheimer's Disease
- Trial name
- LEUCETTA (NCT06206824)
- Testing
- Leucettinib-21
- Where
- France
- Volunteers
- 152 people, healthy volunteers welcome
- Sponsor
- Perha Pharmaceuticals
Holoprosencephaly
A Study of the Genetic Analysis of Brain Disorders
A study of the complex genetics of brain development will be undertaken with an emphasis on those genes that cause the most common structural brain anomaly in humans called holoprosencephaly (HPE).
- Trial name
- NCT00645645
- Where
- United States
- Volunteers
- 5,735 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Rare Fetal Genetic Diseases, Congenital Malformation
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
It is necessary to define reference DNA Methylation Episignatures from fetal DNA. The hypotheses are: It is possible to define reference DNA Methylation Episignatures from fetal DNA extracted from amniotic fluid or frozen tissues…
- Trial name
- FOETEPISIGN (NCT06475651)
- Testing
- Methylation analysis
- Where
- France
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris