Clinical trials: Rare Disease
Focal Segmental Glomerulosclerosis, Immunoglobulin A Nephropathy
Humanistic Burden of (FSGS) Focal Segmental Glomerulosclerosis and IgAN (Immunoglobulin A Nephropathy)
The aim of this observational study is to assess humanistic burden among adults and children/adolescents with FSGS and IgAN as well as the burden and impact for patient care-partners in six countries (United States [US], United…
- Trial name
- HONUS (NCT05200871)
- Where
- 6 sites in United States, Germany and 1 more
- Volunteers
- 487 people
- Sponsor
- Travere Therapeutics, Inc.
C3 Glomerulopathy (C3G), Immune Complex Membranoproliferative Glomerulonephritis (IC-MPGN)
Real-World Effectiveness and Safety of Pegcetacoplan in Patients With C3G or IC-MPG: A Multi-Country Study
The purpose of this study is to evaluate the effectiveness and safety of Pegcetacoplan in patients with C3G and primary IC-MPGN in the real-world setting.
- Trial name
- NCT07746895
- Testing
- Pegcetacoplan
- Where
- 101 sites in Australia, Austria and 12 more
- Volunteers
- 150 people
- Sponsor
- Swedish Orphan Biovitrum
Rare Diseases
A Study to Evaluate Emapalumab in Japanese Healthy Volunteers.
This is a randomized, placebo controlled and double-blinded study to evaluate the pharmacokinetics (PK), pharmacodynamics (PD) and safety of a single dose (1 mg/kg) of emapalumab in adult healthy Japanese subjects.
- Trial name
- NCT04765553
- Testing
- NI-0501, Saline
- Where
- Japan
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Swedish Orphan Biovitrum
Transient Insomnia
A Trial to Assess Consumer Self-Selection and Use of Gabapentin for Occasional Sleeplessness in an Over-the-Counter Environment
The purpose of this study is to assess consumers' behaviors related to gabapentin self- selection and use, relative to warnings and directions for use, as described in the proposed over-the-counter (OTC) product label.
- Trial name
- NCT00659100
- Testing
- Gabapentin
- Where
- 35 sites in United States
- Volunteers
- 1,254 people
- Sponsor
- Pfizer's Upjohn has merged with Mylan to form Viatris Inc.
Homozygous Familial Hypercholesterolemia (HoFH)
A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH)
This first-in-human study is intended to evaluate the safety and preliminary effectiveness of AAV (Adeno-associated virus)-based liver-directed gene therapy in the treatment of adults with Homozygous Familial Hypercholesterolemia…
- Trial name
- NCT02651675
- Testing
- AAV directed hLDLR gene therapy
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 9 people
- Sponsor
- REGENXBIO Inc.
Pemphigus Vulgaris
Efficacy and Safety of Ofatumumab in Treatment of Pemphigus Vulgaris
Pemphigus vulgaris (PV) is a rare, chronic, debilitating, and potentially life-threatening autoimmune disorder that is characterized by mucocutaneous blisters.
- Trial name
- NCT01920477
- Testing
- Ofatumumab
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 35 people
- Sponsor
- Novartis Pharmaceuticals
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.
Rare Unresectable or Metastatic BRAF V600E Mutation-positive Solid Tumors
Clinical Study To Further Evaluate The Efficacy Of Dabrafenib Plus Trametinib In Patients With Rare BRAF V600E Mutation-Positive Unresectable or Metastatic Solid Tumors
This study is a phase IV, pragmatic single-arm prospective, open label study in pediatric (1 years or older) and adult study participants with rare BRAF V600E mutation-positive unresectable or metastatic solid tumors for whom a…
- Trial name
- NCT05868629
- Testing
- Non-investigational
- Where
- 8 sites in United States
- Volunteers
- 40 people
- Sponsor
- Novartis Pharmaceuticals
Non-small Cell Lung Cancer
Study to Evaluate Sutetinib Maleate Capsule in Locally Advanced or Metastatic Non-small Cell Lung Cancer
This is a Phase 2b, multicenter, open-label study to evaluate the safety and efficacy of Sutetinib Maleate Capsule in Locally Advanced or Metastatic NSCLC (Non-resistant Uncommon EGFR Mutations Only, Including L861Q, G719X…
- Trial name
- NCT05168566
- Testing
- Sutetinib Maleate Capsule
- Where
- 31 sites in United States, Australia and 1 more
- Volunteers
- 128 people
- Sponsor
- Teligene US
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
Fragile X Syndrome
CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction
The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.
- Trial name
- FIH-CTH120 (NCT06480968)
- Testing
- CTH120
- Where
- Spain
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Sickle Cell Anemia
Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease
OBJECTIVES: I. Assess the efficacy of poloxamer 188 in reducing the duration of painful vaso-occlusive crisis in patients with sickle cell disease. II.
- Trial name
- NCT00004408
- Testing
- poloxamer 188
- Volunteers
- 300 people
- Sponsor
- Mast Therapeutics, Inc.
Pulmonary Hypertension
Phase III Randomized Study of UT-15 in Patients With Primary Pulmonary Hypertension
OBJECTIVES: I. Determine the safety and efficacy of UT-15 in patients with severe symptomatic primary pulmonary hypertension.
- Trial name
- NCT00004497
- Testing
- UT-15
- Where
- 7 sites in United States
- Sponsor
- United Therapeutics
Advanced Or Metastatic Merkel Cell Carcinoma
Placebo-Controlled Trial of IFx-Hu2.0 Followed By Pembrolizumab In Checkpoint Inhibitor Naïve Participants With Advanced Or Metastatic Merkel Cell Carcinoma
This Phase 2/3, multicenter, randomized, double-blind, placebo-controlled trial will evaluate the Objective Response Rate (ORR) of IFx-Hu2.0 as an adjunctive therapy to pembrolizumab in adult participants (≥18 years) with…
- Trial name
- NCT06947928
- Testing
- IFx-Hu2.0, Pembrolizumab
- Where
- 18 sites in United States
- Volunteers
- 118 people
- Sponsor
- TuHURA Biosciences, Inc.
Genetic Obesity, Obesity
Setmelanotide Phase 2 Treatment Trial in Participants With Rare Genetic Disorders of Obesity
The purpose of the study was to determine the effect of setmelanotide (RM-493) on weight, hunger assessments, and other factors in participants with rare genetic disorders of obesity.
- Conditions
- Genetic Obesity, Obesity, Obesity Due to Melanocortin 4 Receptor Deficiency
- Trial name
- NCT03013543
- Testing
- Setmelanotide
- Where
- 58 sites in United States, Canada and 7 more
- Volunteers
- 213 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Spinal Cord Injury, Quadriplegia
Electrical Activation of The Diaphragm for Ventilatory Assist
OBJECTIVES: The objectives of this study are to test the Diaphragm Pacing Stimulation (DPS) System for treating chronic ventilatory insufficiency in persons with respiratory muscle paralysis.
- Trial name
- NCT00010374
- Testing
- NeuRx DPS
- Where
- 5 sites in United States, Canada
- Volunteers
- 54 people
- Sponsor
- Synapse Biomedical
Anemia, Kidney Failure
Dynepo Infrequent Dosing Study
The purpose of this study is to demonstrate non-inferiority of efficacy between twice weekly and once weekly dose schedule of Dynepo in previously erythropoietin (EPO)-naive patients, as measured by haemoglobin at week 24 and…
- Trial name
- NCT00450333
- Testing
- Dynepo (Epoetin delta), Dynepo
- Where
- 53 sites in Austria, Belgium and 5 more
- Volunteers
- 407 people
- Sponsor
- Shire
Pompe Disease
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
The purpose of this study is to evaluate the safety, pharmacodynamics (PD), and exploratory clinical efficacy of S-606001 in adult participants with LOPD as an add-on to ERT.
- Trial name
- NCT07123155
- Testing
- S-606001
- Where
- 28 sites in United States, Belgium and 7 more
- Volunteers
- 45 people
- Sponsor
- Shionogi
Fabry Disease, Fabry Disease, Cardiac Variant
Long-Term Follow-up of Subjects Who Were Treated With ST-920
Long-term follow-up of subjects who received ST-920 in a previous trial (ST-920-201) and completed at least 52 weeks post-infusion follow-up in their primary protocol.
- Trial name
- NCT05039866
- Testing
- ST-920
- Where
- 13 sites in United States, Australia and 3 more
- Volunteers
- 32 people
- Sponsor
- Sangamo Therapeutics
HER2-positive Breast Cancer, HER2 Gene Mutation
Study of A166 in Patients With Relapsed/Refractory Cancers Expressing HER2 Antigen or Having Amplified HER2 Gene
Open-label, Phase I-II, first-in-human (FIH) study for A166 monotherapy in HER2-expressing or amplified patients who progressed on or did not respond to available standard therapies.
- Conditions
- HER2-positive Breast Cancer, HER2 Gene Mutation, HER-2 Gene Amplification, HER2 Positive Gastric Cancer
- Trial name
- NCT03602079
- Testing
- A166
- Where
- 10 sites in United States
- Volunteers
- 49 people
- Sponsor
- Klus Pharma Inc.