Clinical trials: Rare Diseases
Haemophilia
Defeat Rare Disease in Asia and Pacific (APAC) DRDA - Haemophilia
This study will help to better understand the course of disease in people with haemophilia (A or B [with or without inhibitors]) and the haemophilia care scenario in the selected countries and the experience so far in dealing…
- Trial name
- NCT07163260
- Testing
- No treatment given
- Where
- 4 sites in India, Malaysia and 2 more
- Volunteers
- 244 people
- Sponsor
- Novo Nordisk A/S
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
Fabry Disease
Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease
GROUND study is an Italian, multicenter retrospective longitudinal cohort study with a cross-sectional phase with the aim to quantify the severe clinical burden in terms of severe and fatal outcomes and extension of clinical…
- Trial name
- GROUND (NCT04916977)
- Testing
- FD patients
- Where
- 7 sites in Italy
- Volunteers
- 200 people
- Sponsor
- Chiesi Italia
Obesity Associated With Defects in Leptin-melanocortin Pathway
Open-Label Extension Study of Setmelanotide
This is an open-label extension study designed to evaluate the long-term safety and tolerability of continued setmelanotide treatment in male and female patients ≥2 years of age who have completed or transitioned from a previous…
- Trial name
- NCT06596135
- Testing
- Setmelanotide
- Where
- 13 sites in United States
- Volunteers
- 28 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
IgA Nephropathy, CKD Associated With Type 1 Diabetes
A Phase 2 Trial of the Safety and Efficacy of Bardoxolone Methyl in Patients With Rare Chronic Kidney Diseases - PHOENIX
This multi-center, open-label Phase 2 trial will study the safety, tolerability, and efficacy of bardoxolone methyl in qualified patients with the following rare chronic kidney diseases (CKD): CKD associated with type 1 diabetes…
- Conditions
- IgA Nephropathy, CKD Associated With Type 1 Diabetes, Focal Segmental Glomerulosclerosis, Autosomal Dominant Polycystic Kidney
- Trial name
- PHOENIX (NCT03366337)
- Testing
- Bardoxolone methyl capsules
- Where
- 30 sites in United States
- Volunteers
- 103 people
- Sponsor
- Biogen
Anemia, Hemosiderosis
Extension Study of Iron Chelation Therapy With Deferasirox in β-thalassemia and Rare Chronic Anemia Patients
A 1-year randomized Phase II core trial was conducted to investigate the efficacy of deferasirox in regularly transfused patients with β-thalassemia and other rare chronic anemia 2 years of age and older.
- Trial name
- NCT00303329
- Testing
- Deferasirox
- Where
- 28 sites in United States, Belgium and 5 more
- Volunteers
- 184 people
- Sponsor
- Novartis Pharmaceuticals
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
Primary Central Nervous System Lymphoma (PCNSL)
Real-World Evidence of Effectiveness and Safety of Tirabrutinib in Patients With Relapsed or Refractory Primary Central Nervous System Lymphoma in Taiwan: A Nationwide Study
The goal of this observational study is to describe the real-world effectiveness and safety of tirabrutinib among relapsed or refractory PCNSL patients in Taiwan.
- Trial name
- REVEAL (NCT06714370)
- Where
- 6 sites in Taiwan
- Volunteers
- 24 people
- Sponsor
- Ono Pharmaceutical Co., Ltd.
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
Non-Small-Cell Lung Cancer, Metastatic Non-Small-Cell Lung Cancer
Study to Evaluate Efficacy and Safety of Firmonertinib Compared With Investigator's Choice of EGFR Inhibitor as First-Line Treatment in Participants Who Have Locally Advanced or Metastatic NSCLC With EGFR P-Loop and Alpha C-Helix Compressing (PACC) Uncommon Mutations
Global, Phase 3, randomized, multicenter, open-label study evaluating the efficacy and safety of firmonertinib at a dose level of 240 mg QD compared to investigator's choice of osimertinib (80 mg QD) or afatinib (40 mg QD) in…
- Conditions
- Non-Small-Cell Lung Cancer, Metastatic Non-Small-Cell Lung Cancer, Advanced Non-Small-Cell Lung Cancer, EGFR P-Loop and Alpha C-Helix Compressing
- Trial name
- NCT07185997
- Testing
- Firmonertinib, EGFR-TKI inhibitor based on investigator's choice
- Where
- 139 sites in United States, Australia and 15 more
- Volunteers
- 480 people
- Sponsor
- ArriVent BioPharma, Inc.
Tay-Sachs Disease, Sandhoff Disease
A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2
Primary Objectives: Primary population (adult participants with late-onset GM2 gangliosidosis): To assess the efficacy and pharmacodynamics (PD) of daily oral dosing of venglustat when administered over a 104-week period…
- Trial name
- AMETHIST (NCT04221451)
- Testing
- venglustat GZ402671
- Where
- 23 sites in United States, Argentina and 11 more
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Primary Biliary Cholangitis (PBC)
A Study of Fatigue, Itching and Daily Activities in People With Primary Biliary Cholangitis Starting Elafibranor
The purpose of this study is to understand how tiredness changes in adults with Primary Biliary Cholangitis (PBC) after starting elafibranor in routine clinical practice.
- Trial name
- NCT07906639
- Testing
- Elafibranor
- Volunteers
- 50 people
- Sponsor
- Ipsen
Hemophilia B, Mucopolysaccharidosis I
Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX
Long-term follow-up of subjects who received SB-318, SB-913, or SB-FIX in a previous trial and completed at least 52 weeks post-infusion follow-up in their primary protocol.
- Conditions
- Hemophilia B, Mucopolysaccharidosis I, Mucopolysaccharidosis II
- Trial name
- LTFU (NCT04628871)
- Testing
- SB-318, SB-913, SB-FIX
- Where
- 5 sites in United States
- Volunteers
- 13 people
- Sponsor
- Sangamo Therapeutics
Beta-thalassemia Major, Hemosiderosis
Extension Study of the Efficacy and Safety of Deferasirox Treatment in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2-year Duration)
To allow patients treated with deferasirox in the core study to continue iron chelation therapy for 2 years or until the drug became locally commercially available.
- Conditions
- Beta-thalassemia Major, Hemosiderosis, Iron Overload, Rare Anemia
- Trial name
- ESCALATOR (NCT00171301)
- Testing
- Deferasirox
- Where
- 5 sites in Egypt, Lebanon and 3 more
- Volunteers
- 233 people
- Sponsor
- Novartis Pharmaceuticals
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
Rare Diseases
A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives
To collect, preserve, and distribute annotated leukopak biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and…
- Trial name
- NCT05794217
- Testing
- This is a non-interventional study
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences
Pompe Disease
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the long-term safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07750990
- Testing
- S-606001, ERT
- Volunteers
- 60 people
- Sponsor
- Shionogi
Homozygous Familial Hypercholesterolemia (HoFH)
A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501
This long-term observational study is designed to follow subjects who, during another Clinical Study, received gene therapy treatment used to treat their Homozygous Familial Hypercholesterolemia (HoFH) disease.
- Trial name
- NCT04080050
- Testing
- Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene Therapy
- Where
- 6 sites in United States, Canada and 1 more
- Volunteers
- 8 people
- Sponsor
- REGENXBIO Inc.
Epilepsy
Open-Label PoC Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies
To evaluate the efficacy of open-label ganaxolone as adjunctive therapy for uncontrolled seizures in female children with PCDH19 mutation and other rare genetic epilepsies in an open-label proof-of-concept study.
- Trial name
- NCT02358538
- Testing
- Ganaxolone
- Where
- 10 sites in United States, Italy
- Volunteers
- 30 people
- Sponsor
- Marinus Pharmaceuticals
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