Clinical trials: Rare Disorders, open to volunteers
Rare Diseases, Genetic Predisposition to Disease
Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
The GE-MED APPROACH project will enroll patients (n = appr. 12.000) with unclear molecular cause of the disease, suspected genetic cause of the disease without detailed molecular analysis like Whole Exome Sequencing (WES).
- Trial name
- GE-MED (NCT04760522)
- Testing
- WGS Diagnostic: Blood take for genetic diagnostic
- Where
- Germany
- Volunteers
- 12,000 people
- Sponsor
- University Hospital Tuebingen
Epilepsies, Epilepsies, Focal
Home Ultra-long Term EEG Monitoring for Rare Epilepsies and Developmental and Epileptic Encephalopathies
With this study the Investigator expects to develop a precise patient-centered model of care by means of home ultra-long-term EEG monitoring with a minimally invasive wearable EEG device (sqEEG).
- Conditions
- Epilepsies, Epilepsies, Focal, Epileptic Encephalopathy
- Trial name
- EMIRE (NCT06855901)
- Testing
- Ultra-longterm EEG monitoring at home by means of a scubscalp electrode implant.
- Where
- 4 sites in Italy
- Volunteers
- 30 people
- Sponsor
- Azienda Ospedaliero-Universitaria di Modena
Inherited Disease, Rare Diseases
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal…
- Conditions
- Inherited Disease, Rare Diseases, Metabolic Disease, Undiagnosed Disease
- Trial name
- NCT04880356
- Testing
- collection of data
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Cystinosis
European Cystinosis Cohort 2
This European observational cohort follows patients with cystinosis, a rare lysosomal storage disease caused by CTNS mutations leading to cystine accumulation and multisystem involvement.
- Trial name
- RaDiCo-ECYSCO2 (NCT07680751)
- Where
- France
- Volunteers
- 250 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Neurodevelopmental Disorder (Diagnosis)
Expanding NGS Data with Optical Genome Mapping (OGM)
Over 50% of pediatric neurological and neurodevelopmental disorders lack a molecular diagnosis after standard DNA sequencing and molecular karyotyping.
- Trial name
- OGM (NCT06851377)
- Testing
- Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS), Trascriptome analysis
- Where
- Italy
- Volunteers
- 60 people
- Sponsor
- IRCCS Eugenio Medea
Fabry Disease
Novel Diagnostic and Prognostic Predictors in Fabry Cardiomyopathy: Proof of Concept in a Rare Disease
In this work, we address the understanding of the signaling pathways involved in cardiac remodeling in human SCD through molecular imaging analysis with a fibrosis marker.
- Trial name
- FABRyCar (NCT07351136)
- Testing
- PET scan of 68Ga-FAPI
- Volunteers
- 20 people
- Sponsor
- Núcleo de Apoio à Investigação Clínica - FMUP
Undiagnosed Conditions, Rare Disorders
Gene Discovery Core, The Manton Center
The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions.
- Conditions
- Undiagnosed Conditions, Rare Disorders, Orphan Diseases
- Trial name
- NCT02743845
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Boston Children's Hospital
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
Myasthenia Gravis
Integrating Art Therapy and Adapted Physical Activity: Toward Improved Quality of Life in Patients With Myasthenia Gravis
Myasthenia Gravis (MG) is a rare neuromuscular disease characterized by fluctuating muscle weakness and excessive fatigability. Although medical treatments have improved, MG continues to significantly impact patients' physical…
- Trial name
- APART-MG (NCT07125105)
- Testing
- Adapted Physical Activity Only, Adapted Physical Activity + Art Therapy
- Where
- France
- Volunteers
- 102 people
- Sponsor
- Universite du Littoral Cote d'Opale
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
Creation of an Italian Network of Biobanks of Rare Diseases
ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria
Rare diseases (RDs) have been defined by the European Union (EU) as life-threatening or chronically debilitating conditions affecting less than 1 person in 2000.
- Trial name
- SATELLITES (NCT06782230)
- Where
- Italy
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Myeloproliferative Disease, Polycythemia Vera
ENERGIA: Personalized Exercise Program for Fatigue in Patients With Myeloproliferative Neoplasms and Chronic Myeloid Leukemia
This study evaluates whether a personalized, supervised exercise program can improve fatigue and physical function in patients with myeloproliferative neoplasms (MPN) and chronic myeloid leukemia (CML).
- Conditions
- Myeloproliferative Disease, Polycythemia Vera, Thrombocythemia Essential, Myelofibrosis, Primary
- Trial name
- ENERGIA (NCT07518940)
- Testing
- Participants will take part in a 12-week exercise program that includes aerobic and resistance training, tailored to their individual fitness level and clinical condition.
- Where
- Italy
- Volunteers
- 25 people
- Sponsor
- Carmen Fava
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.
Pulmonary Alveolar Proteinosis
A National Registry For Pulmonary Alveolar Proteinosis
The major goal of Part A of this study is to establish a National PAP Registry to help make reliable new research tests available to doctors to improve the diagnosis of PAP, increase awareness and knowledge of PAP, and give…
- Trial name
- NCT02461615
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Urologic Diseases, Male Infertility
Protocol N. 2014 - Observational Study on the Quality of Life of Outpatients
Prospective observational study on the quality of life of patients attending general urology, sexual medicine, reproductive medicine, functional urology, neuro-urology and uro-oncology clinics.The data relating to the clinical…
- Conditions
- Urologic Diseases, Male Infertility, Sexual Medicine
- Trial name
- NCT06193850
- Testing
- Observation during time
- Where
- Italy
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele