Clinical trials: Rare Diseases
Red-Cell Aplasia, Pure
A Study to Observe the Number of Patients Who Develop Pure Red Cell Aplasia (PRCA, a Rare Form of Anemia) While Receiving Epoetin Alfa or Other Recombinant Erythropoietins
The purpose of this study is to record the number of participants with chronic renal disease who are receiving treatment with epoetin alfa or other recombinant erythropoietins who develop pure red cell aplasia (PRCA, a rare form…
- Trial name
- NCT00211029
- Volunteers
- 4,670 people
- Sponsor
- Johnson & Johnson Pharmaceutical Research & Development, L.L.C.
Ewing's Sarcoma, Ewing Family of Tumors
Pbi-shRNA™ EWS/FLI1 Type 1 LPX in Subjects With Advanced Ewing's Sarcoma
The purpose of this study is to determine the safety and the maximum tolerated dose of of pbi-shRNA™ EWS/FLI1 Type 1 lipoplex in patients with advanced Ewing's sarcoma.
- Conditions
- Ewing's Sarcoma, Ewing Family of Tumors, Ewing's Tumor Metastatic, Ewing's Sarcoma Metastatic
- Trial name
- NCT02736565
- Testing
- pbi-shRNA™ EWS/FLI1 Type 1 Lipoplex
- Where
- 2 sites in United States
- Volunteers
- 7 people
- Sponsor
- Gradalis, Inc.
Meconium Aspiration
Phase III Randomized Study of Lucinactant in Full Term Newborn Infants With Meconium Aspiration Syndrome
OBJECTIVES: Evaluate the safety and efficacy of lucinactant administered by bronchoalveolar lavage (BAL) in the treatment of meconium aspiration syndrome (MAS) in newborn infants.
- Trial name
- NCT00004500
- Testing
- Lucinactant, Standard Care
- Where
- United States
- Volunteers
- 69 people
- Sponsor
- Windtree Therapeutics
Duchene Muscular Dystrophy
A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy
This is a prospective observational study conducted to evaluate safety, tolerability, and functional outcomes of patients with DMD newly initiating oral givinostat or having started therapy within 6 months as part of routine…
- Trial name
- PROVIDUS (NCT07127978)
- Where
- 9 sites in United States
- Volunteers
- 300 people
- Sponsor
- ITF Therapeutics LLC
Iron Overload, Beta-Thalassemia
SP-420 in Subjects With Transfusion-dependent Beta-Thalassemia or Other Rare Anemias
The purpose of this study is to test the safety and tolerability of SP-420 and it's efficacy in terms of lowering iron in subjects with Beta-thalassemia or other rare anemias who need regular blood transfusions.
- Trial name
- NCT03801889
- Testing
- SP-420
- Where
- 4 sites in Canada, Lebanon and 2 more
- Sponsor
- Abfero Pharmaceuticals, Inc
Pustular Psoriasis (PP), Generalized Pustular Psoriasis (GPP)
Evaluating Legit.Health Plus Support for Improving Diagnosis of Generalized Pustular Psoriasis and Other Skin Conditions Among Primary Care Physicians and Dermatologists
This study aims to determine if an artificial intelligence (AI) medical device can help healthcare professionals more accurately diagnose rare and complex skin conditions.
- Conditions
- Pustular Psoriasis (PP), Generalized Pustular Psoriasis (GPP), Eczema Atopic Dermatitis, Acute Generalized Exanthematous Pustulosis
- Trial name
- LegitHealth BI (NCT07428915)
- Testing
- AI-based medical device for aided diagnosis in Dermatology
- Where
- Spain
- Volunteers
- 15 people
- Sponsor
- AI Labs Group S.L
Rare Diseases, Generalized Myasthenia Gravis (gMG)
Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in Russia
This is a multicenter, non-interventional, retrospective-prospective, single-arm observational study designed to describe real-world treatment approaches and clinical outcomes among adults with acetylcholine receptor (AChR)…
- Trial name
- NCT07247279
- Where
- 7 sites in Russia
- Volunteers
- 450 people
- Sponsor
- AstraZeneca
Molybdenum Cofactor Deficiency (MoCD), Rare Autosomal Recessive Disorder
Phase 1 Single Dose Study of ALXN1101 in Healthy Volunteers
Phase 1 single dose study of ALXN1101 in healthy volunteers.
- Conditions
- Molybdenum Cofactor Deficiency (MoCD), Rare Autosomal Recessive Disorder, Deficiency of Activity of Molybdenum-dependent Enzymes (Sulfite Oxidase [SOX], Xanthine Dehydrogenase, and Aldehyde Oxidase)
- Trial name
- NCT01894165
- Testing
- ALXN1101
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Origin Biosciences
Cytomegalovirus (CMV)
A Study of Cytomegalovirus (CMV) Infection After Kidney Transplant in Adults in the United Kingdom
This observational study intends to retrospectively gather information on cytomegalovirus (CMV) infection management in the United Kingdom (UK) over a period of 7 years (2017-2024).
- Trial name
- NCT06568055
- Testing
- No Intervention
- Where
- United Kingdom
- Volunteers
- 330 people
- Sponsor
- Takeda
Tumors With Aberrations in ALK, Anaplastic Large Cell Lymphoma
Ceritinib Rare Indications Study in ALK+ Tumors
This is Proof-of-Concept (POC) study to assess the preliminary antitumor activity and safety and tolerablity using ceritinib (LDK378) in the treatment of life threatening tumors that are characterized by ALK genetic alteration…
- Conditions
- Tumors With Aberrations in ALK, Anaplastic Large Cell Lymphoma, Inflammatory Myofibroblastic Tumor, Glioblastoma
- Trial name
- NCT02465528
- Testing
- Ceritinib (LDK378)
- Where
- 14 sites in Czechia, Denmark and 6 more
- Volunteers
- 22 people
- Sponsor
- Novartis Pharmaceuticals
Non-squamous, Non-Small Cell Lung Cancer
The Study Observes How Long Patients With Non-small Cell Lung Cancer (NSCLC) Benefit From Treatment With Epidermal Growth Factor Tyrosine Kinase Inhibitor (EGFR-TKI) When Given Either for Uncommon Mutations or for Common Mutations in the Sequence Afatinib Followed by Osimertinib
Non-interventional, multi-country, multi-centre cohort study based on existing data from medical records (paper or electronic) or electronic health records of patients with advanced NSCLC harbouring EGFR mutations and treated…
- Trial name
- UpSwinG (NCT04179890)
- Testing
- Afatinib (Gi(l)otrif®), Erlotinib (Tarceva®), Gefitinib (IRESSA®)
- Where
- United Kingdom
- Volunteers
- 462 people
- Sponsor
- Boehringer Ingelheim
Invasive Fungal Infections
Open-label Study of APX001 for Treatment of Patients With Invasive Mold Infections Caused by Aspergillus or Rare Molds
This is a Phase 2, multicenter study to evaluate APX001 for the treatment of invasive fungal infections caused by Aspergillus spp. or rare molds (eg, Scedosporium spp., Fusarium spp., and Mucorales fungi).
- Trial name
- AEGIS (NCT04240886)
- Testing
- fosmanogepix
- Where
- 15 sites in United States, Belgium and 2 more
- Volunteers
- 21 people
- Sponsor
- Basilea Pharmaceutica
Cancer
Efficacy and Safety of the Combination Therapy of Dabrafenib and Trametinib in Subjects With BRAF V600E- Mutated Rare Cancers
This was a Phase II, open-label, non-randomized, multi-center study of oral dabrafenib in combination with oral trametinib in subjects with rare cancers harboring the BRAF V600E mutation including anaplastic thyroid cancer (ATC)…
- Trial name
- NCT02034110
- Testing
- Dabrafenib, Trametinib
- Where
- 41 sites in United States, Austria and 12 more
- Volunteers
- 206 people
- Sponsor
- Novartis Pharmaceuticals
Aplastic Anemia
A Study of Avatrombopag in Adults With Aplastic Anemia Who Did Not Respond to, Cannot Receive, or Had Return of Disease After Standard Treatment
This research study is testing a medicine called avatrombopag in adults with aplastic anemia, a rare condition where the bone marrow does not produce enough blood cells.
- Trial name
- NCT07786922
- Testing
- Avatrombopag 20 mg Oral Tablet
- Volunteers
- 26 people
- Sponsor
- Swedish Orphan Biovitrum
Rare Diseases
NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants
Prospective, multi-site, study to evaluate the clinical utility of cWGS in a proband. One group will receive cWGS and a clinical report approximately 15 days after blood samples are received, while the other group will continue…
- Trial name
- NICU-Seq (NCT03290469)
- Testing
- clinical whole genome sequencing (cWGS)
- Where
- 5 sites in United States
- Volunteers
- 355 people
- Sponsor
- Illumina, Inc.
Ichthyosis
Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis
OBJECTIVES: I. Compare the safety and efficacy of monolaurin cream versus a placebo vehicle cream in suppressing the signs of nonbullous congenital ichthyosiform erythroderma. II.
- Trial name
- NCT00004690
- Testing
- monolaurin cream
- Volunteers
- 90 people
- Sponsor
- Cellegy Pharmaceuticals
Idiopathic Pulmonary Fibrosis
Digital Auscultation Test - IPF Data Collection
The aim of this study is the data collection for patients with IPF and symptom matched controls to create a database of lung auscultation sounds and basic patient characteristics.
- Trial name
- NCT03503188
- Testing
- Littmann ®
- Where
- 10 sites in Germany
- Volunteers
- 274 people
- Sponsor
- Boehringer Ingelheim
Sly Syndrome, MPS VII
A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)
The primary objective of the study is to evaluate the long-term safety of UX003 in subjects with MPS 7.
- Conditions
- Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
- Trial name
- NCT02432144
- Testing
- UX003
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Erectile Dysfunction
The Effects of a Nitrate Supplementation on Erectile Function
Twenty (20) individuals to be recruited from Ballantyne Medical Associates in Charlotte, NC, without any significant chronic medical history. These patients are general patients for primary care that meet inclusion criteria.
- Trial name
- NCT06213077
- Testing
- Nitric Oxide, Tadalafil
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- RHA Investments Ltd
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