Clinical trials: Orphan Diseases
Amyotrophic Lateral Sclerosis
RAPA-501 Therapy of ALS Expanded Access Protocol
RAPA-501-ALS is an Intermediate-Size Expanded Access Trial of RAPA-501 autologous hybrid TREG/Th2 T stem cells in patients living with amyotrophic lateral sclerosis (pwALS).
- Trial name
- NCT06169176
- Testing
- RAPA-501 Autologous T stem cells
- Where
- 10 sites in United States
- Sponsor
- Rapa Therapeutics LLC
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.
B-cell Chronic Lymphocytic Leukemia, Small Lymphocytic Lymphoma
A Study of Cirmtuzumab and Ibrutinib in Patients With B-Cell Lymphoid Malignancies
This is Phase 1b/2 study to investigate the safety and effectiveness of the investigational drug, cirmtuzumab, when given in combination with ibrutinib in patients with B-cell lymphoid malignancies.
- Conditions
- B-cell Chronic Lymphocytic Leukemia, Small Lymphocytic Lymphoma, Mantle Cell Lymphoma, Marginal Zone Lymphoma
- Trial name
- NCT03088878
- Testing
- Cirmtuzumab (2-16 kg/mg) plus Ibrutinib, Cirmtuzumab (300mg) plus Ibrutinib, Cirmtuzumab (600 mg) plus ibrutinib
- Where
- 12 sites in United States
- Volunteers
- 95 people
- Sponsor
- Oncternal Therapeutics, Inc
Skin Fibrosis
Open Label Extension (OLE) for the Patients Treated in the ISD002-P144-07 Study
Transforming growth factor-beta 1 is consistently over expressed in most fibrotic diseases and displays a variety of profibrotic effects in fibroblasts(25, 26).
- Trial name
- NCT00781053
- Testing
- P144 cream
- Where
- 17 sites in Germany, Hungary and 4 more
- Volunteers
- 38 people
- Sponsor
- ISDIN
Familial Hypoalphalipoproteinemia
CER-001 Therapy as a Novel Approach to Treat Genetic Orphan Diseases
The purpose of this study is to assess the impact of 29 intravenous infusions of CER-001 vs. placebo, given at weekly (9 infusions) and biweekly (20 infusions) intervals on carotid vessel wall area as measured by 3TMRI, when…
- Trial name
- TANGO (NCT02697136)
- Testing
- CER-001
- Where
- 19 sites in United States, Belgium and 5 more
- Volunteers
- 30 people
- Sponsor
- Cerenis Therapeutics, SA
MECP2 Duplication Syndrome
A First-in-Human Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of a Novel CRISPR RNA-editing Therapy in Patients with Mecp2 Duplication Syndrome, a Rare Orphan Disease (HERO)
Methyl-CpG binding protein 2 (MECP2) is a dosage-sensitive, X-linked gene critical for central nervous system development and functional maintenance, which gain-of-function causes MECP2 duplication syndrome (MDS).
- Trial name
- HERO (NCT06615206)
- Testing
- HG204
- Where
- China
- Volunteers
- 6 people
- Sponsor
- HuidaGene Therapeutics Co., Ltd.
Skin Fibrosis
Efficacy and Safety Study of p144 to Treat Skin Fibrosis in Systemic Sclerosis
Transforming growth factor-beta 1 (TGF-β1) is consistently over expressed in most fibrotic diseases and displays a variety of profibrotic effects in fibroblasts.
- Trial name
- NCT00574613
- Testing
- P144
- Where
- 17 sites in Germany, Hungary and 4 more
- Volunteers
- 56 people
- Sponsor
- ISDIN
Polycythemia Vera
Study to Assess the Self-administration of AOP2014 Using a Pen, Developed for the Treatment of Polycythemia Vera Patients
Polycythemia Vera (PV) is a disease of bone marrow stem cells that manifests in a drastic increase of red blood cells and frequently also of white blood cells.
- Trial name
- PEN-PV (NCT02523638)
- Testing
- Pegylated-Proline-Interferon alpha-2b in a Pre-filled Pen
- Where
- 35 sites in Austria, Bulgaria and 6 more
- Volunteers
- 30 people
- Sponsor
- AOP Orphan Pharmaceuticals AG
Polycythemia Vera
AOP2014 vs. BAT in Patients With Polycythemia Vera Who Previously Participated in the PROUD-PV Study.
Polycythemia Vera (PV) is a disease of bone marrow stem cells that manifests in a drastic increase of red blood cells and frequently also of white blood cells.
- Trial name
- CONTI-PV (NCT02218047)
- Testing
- Pegylated-Proline-interferon alpha-2b, Best available therapy (BAT)
- Where
- 47 sites in Austria, Bulgaria and 10 more
- Volunteers
- 170 people
- Sponsor
- AOP Orphan Pharmaceuticals AG
Orphan Cholestatic Liver Diseases, Progressive Familial Intrahepatic Cholestasis
An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects
The primary objectives of the study are to assess the mass balance recovery after a single dose of carbon-14 [14C]-A4250 as a capsule and to provide plasma, urine and faecal samples for metabolite profiling and structural…
- Conditions
- Orphan Cholestatic Liver Diseases, Progressive Familial Intrahepatic Cholestasis, Alagille Syndrome, Primary Biliary Cirrhosis
- Trial name
- NCT03082937
- Testing
- 3 mg [14C]-A4250 capsule
- Where
- United Kingdom
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Albireo
Psoriasis
Study of Safety and Efficacy of Topical GSK2981278 Ointment in Plaque Psoriasis
GSK2981278 is a highly potent and selective inverse agonist of retinoic acid receptor-related orphan receptor gamma (ROR gamma) that is under development for topical treatment of plaque type psoriasis suitable for topical…
- Trial name
- NCT02548052
- Testing
- GSK2981278 0.03%, GSK2981278 0.1%, GSK2981278 0.8%
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- GlaxoSmithKline
Fragile X Syndrome (FXS), Fragile X Syndrome
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
- Trial name
- FXS-CTH120-01 (NCT07654114)
- Testing
- CTH120
- Where
- 2 sites in Spain
- Volunteers
- 30 people
- Sponsor
- Connecta Therapeutics, S.L.
Advanced Malignancies
Safety, Tolerability and Pharmacokinetics of an Anti-PD-1 Monoclonal Antibody in Subjects With Advanced Malignancies
The primary objective is to assess the safety and tolerability of Toripalimab in subjects with various advanced malignancies and to evaluate the recommended Phase 2 dose.
- Trial name
- NCT03474640
- Testing
- Part A, Part B
- Where
- 14 sites in United States
- Volunteers
- 184 people
- Sponsor
- TopAlliance Biosciences
Cystinosis
Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inherited disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT01000961
- Testing
- Cystagon® (Cysteamine Bitartrate), Cysteamine Bitartrate Delayed-release Capsules (RP103)
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 43 people
- Sponsor
- Amgen
Orphan Cholestatic Liver Diseases, Primary Biliary Cirrhosis
A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384
The primary objectives of the study are to evaluate the safety, tolerability and pharmacokinetics of A4250 after single or multiple oral doses in healthy subjects.
- Conditions
- Orphan Cholestatic Liver Diseases, Primary Biliary Cirrhosis, Progressive Familial Intrahepatic Cholestasis, Alagille Syndrome
- Trial name
- NCT02963077
- Testing
- A4250, CRC (A3384), Questran
- Volunteers
- 94 people, healthy volunteers welcome
- Sponsor
- Albireo
Homozygous Familial Hypercholesterolemia
Effect of CER-001 on Plaque Volume in Homozygous Familial Hypercholesterolemia (HoFH) Subjects
The available medications used to treat HoFH are targeted at reducing circulating levels of total and LDL-cholesterol. These measures can retard the progression of cardiovascular disease, however, they are unlikely to regress…
- Trial name
- MODE (NCT01412034)
- Testing
- CER-001
- Where
- 9 sites in United States, Canada and 3 more
- Volunteers
- 23 people
- Sponsor
- Cerenis Therapeutics, SA
Cystinosis
Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)
Cystinosis is an inherited disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate immediate release) which must be taken every…
- Trial name
- NCT01197378
- Testing
- Cysteamine Bitartrate Delayed-release Capsules
- Where
- 10 sites in United States, France and 1 more
- Volunteers
- 60 people
- Sponsor
- Amgen
Lymphoma, Mantle-Cell, Lymphoma
A Study of Zilovertamab and Ibrutinib in Patients With Relapsed or Refractory Mantle Cell Lymphoma
This is a Phase 3 study to investigate the safety and efficacy of the investigational drug, zilovertamab, when given in combination with ibrutinib in patients with relapsed/refractory (R/R) mantle cell lymphoma (MCL).
- Conditions
- Lymphoma, Mantle-Cell, Lymphoma, Lymphoproliferative Disorders, Lymphatic Diseases
- Trial name
- NCT05431179
- Testing
- Zilovertamab, Ibrutinib
- Sponsor
- Oncternal Therapeutics, Inc
Cystinosis
Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inheritable disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT00872729
- Testing
- Cystagon®, RP103
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Amgen
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.