Clinical trials: Rare Disorders
Colic
Study to Evaluate Efficacy and Safety of Oral Doses of Hyoscine Butylbromide for the Treatment of Occasional Abdominal Pain, Cramping, and Discomfort
Study to determine whether hyoscine butylbromide can provide adequate symptomatic relief of a single episode - defined as lasting not longer than 1 day - and multiple episodes of abdominal pain or discomfort associated with…
- Trial name
- NCT02242292
- Testing
- Hyoscine butylbromide
- Volunteers
- 527 people
- Sponsor
- Boehringer Ingelheim
Advanced or Metastatic NSCLC Harboring Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion (ex20ins) Mutations
A Study of Zipalertinib in Patients With Advanced Non-Small Cell Lung Cancer With Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertions or Other Uncommon Mutation.
The purpose of this study is to evaluate the safety, efficacy and pharmacokinetics (PK) of zipalertinib in participants with locally advanced or metastatic Non-Small Cell Lung Cancer (NSCLC) harboring EGFR ex20ins mutations and…
- Trial name
- REZILIENT2 (NCT05967689)
- Testing
- TAS6417, CYP Cocktail, Transporter Cocktail
- Where
- 80 sites in United States, Australia and 10 more
- Volunteers
- 220 people
- Sponsor
- Taiho Oncology, Inc.
Familial Chylomicronemia Syndrome (FCS)
CS-121 APOC3 Base Editing in FCS
This is an open-label, single-arm, dose-escalation Phase I clinical trial to evaluate the safety, tolerability, pharmacodynamics (PD), and pharmacokinetics (PK) of CS-121, an in vivo base editing therapy delivered by lipid…
- Trial name
- NCT07176923
- Testing
- CS-121
- Where
- China
- Volunteers
- 15 people
- Sponsor
- CorrectSequence Therapeutics Co., Ltd
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
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
Hypertension
Lacidipine in Medical Practice in Patients With Mild to Moderate Essential Hypertension
In order to confirm the proposed metabolic effect of lacidipine these follow-up study was to provide long-term data on its impact on liver function, glucose homoeostasis and lipid metabolism.
- Trial name
- NCT02177331
- Testing
- Lacidipine
- Volunteers
- 53 people
- Sponsor
- Boehringer Ingelheim
Anemia
A Safety and Tolerability Study of AG-519 in Healthy Subjects
The purpose of the study is to investigate a drug called AG-519, which is being developed for the treatment of a disease called pyruvate kinase deficiency (also known as PK deficiency) and other forms of anemia.
- Trial name
- NCT02630927
- Testing
- AG-519
- Where
- United Kingdom
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- Agios Pharmaceuticals, Inc.
Gaucher Disease
Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)
This is a three-phase study comprising both retrospective and prospective components, as follows: Phase I: Deployment of Rare Disease Algorithm: A diagnostic screening algorithm was developed using advanced analytical methods to…
- Trial name
- NCT05908656
- Testing
- Investigational procedure
- Where
- 3 sites in United States
- Volunteers
- 13 people
- Sponsor
- Sanofi
Pregnancy Related
Elafibranor Pregnancy Surveillance Program: A Study to Evaluate the Safety of Elafibranor During Pregnancy
The study will include participants who were exposed to at least one dose of elafibranor either within the three weeks before conception or at any time during pregnancy (based on estimated last menstrual period [LMP]).
- Trial name
- NCT07556913
- Testing
- Elafibranor
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Ipsen
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
Hereditary Tyrosinemia, Type I
A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients
This is a prospective, non-interventional, non-comparative, multicenter study to collect data on HT-1 patients in China treated with Nitisinone in a routine clinical setting. No tests or examinations are mandated in the study.
- Trial name
- NCT06227429
- Testing
- Nitisinone
- Where
- 4 sites in China
- Sponsor
- Swedish Orphan Biovitrum
Metabolic Disease, Fabry Disease
Getting Global Rare Disease Insights Through Technology Study
This project is a randomized controlled trial to use a mobile health journal, called Zamplo (formerly known as MyHealthJournal or ZoeInsights), to record patient reported outcomes (PROM) in patients with metabolic disorders.
- Conditions
- Metabolic Disease, Fabry Disease, Gaucher Disease, Pompe Disease
- Trial name
- GRIT (NCT04758130)
- Testing
- Zamplo Digital Health Platform
- Where
- Canada
- Volunteers
- 150 people
- Sponsor
- M.A.G.I.C. Clinic LTD
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
Part 1: Bladder, Biliary Tract, Cervical, Endometrial, Ovarian, Pancreatic Cancer, Rare Tumors, Any Tumor Type Excluding Breast, Gastric, Colorectal Cancer, Part 2: HER2 Expressing/Amplified Solid Tumors Excluding Breast, Gastric, Colorectal Cancer
A Phase 2 Study of T-DXd in Patients With Selected HER2 Expressing Tumors
This is an open-label, multi-center, multi-cohort, Phase 2 study to evaluate the efficacy and safety of trastuzumab deruxtecan (T-DXd) for the treatment of selected HER2-expressing tumors.
- Trial name
- DPT02 (NCT04482309)
- Testing
- Trastuzumab deruxtecan
- Where
- 89 sites in United States, Australia and 15 more
- Volunteers
- 477 people
- Sponsor
- AstraZeneca
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
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
Melanoma, Non Small Cell Lung Cancer
Dabrafenib and/or Trametinib Rollover Study
This study is to provide access for patients who are receiving treatment with dabrafenib and/or trametinib in a Novartis-sponsored Oncology Global Development, Global Medical Affairs or a former GSK-sponsored study who have…
- Conditions
- Melanoma, Non Small Cell Lung Cancer, Solid Tumor, Rare Cancers
- Trial name
- NCT03340506
- Testing
- dabrafenib, trametinib
- Where
- 38 sites in United States, Argentina and 13 more
- Volunteers
- 100 people
- Sponsor
- Novartis Pharmaceuticals
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.
Tyrosinemia, Type I, Tyrosinemia, Type II
Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of Zero minis, a range of protein substitute tablets for use in the dietary management of children with either TYROSINAEMIA…
- Conditions
- Tyrosinemia, Type I, Tyrosinemia, Type II, Tyrosinemia, Type III, Alkaptonuria
- Trial name
- ZeroMinisMR (NCT06298292)
- Testing
- Zero minis (range of protein substitutes in tablet form)
- Volunteers
- 15 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Leukemia, Hematologic Malignancy
Solving Riddles Through Sequencing
During the last decades hematologists have excelled at improving and refining the classification, diagnosis, and thus ultimately the therapeutic decision-making process for their patients.
- Conditions
- Leukemia, Hematologic Malignancy, Rare Diseases, Refractory Leukemia
- Trial name
- SIRIUS (NCT05046444)
- Testing
- Next Generation Sequencing
- Where
- Germany
- Volunteers
- 100 people
- Sponsor
- Munich Leukemia Laboratory