Clinical trials: Rare Disease
Haematological Malignancy, Malignant Neoplasm
DETERMINE Trial Treatment Arm 01: Alectinib in Adult, Paediatric and Teenage/Young Adult Patients With ALK Positive Cancers
This clinical trial is looking at a drug called alectinib. Alectinib is approved as standard of care treatment for adult patients with certain types of lung cancer.
- Conditions
- Haematological Malignancy, Malignant Neoplasm, Lymphoproliferative Disorders, Neoplasms by Histologic Type
- Trial name
- DETERMINE (NCT05770037)
- Testing
- Alectinib
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK
Spinal Muscular Atrophy
Development of a Multidisciplinary Network for Clinical and Laboratory Research for SMA
The goal of this observational study is to to establish profiles of clinical progression in patients affected by the different types of SMA (type I, II and III) treated with the currently approved drugs using a structured battery…
- Trial name
- NCT05866939
- Volunteers
- 400 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Phase III Randomized, Double-Blind, Placebo-Controlled Study of 3,4-Diaminopyridine for Demyelinating Polyneuropathy
OBJECTIVES: I. Assess the efficacy of 3,4-diaminopyridine in patients with stable chronic demyelinating polyneuropathy.
- Trial name
- NCT00004939
- Testing
- ,4-diaminopyridine
- Volunteers
- 34 people
- Sponsor
- National Center for Research Resources (NCRR)
Hemolytic-Uremic Syndrome, Membranoproliferative Glomerulonephritis
New Analytic Tools for aHUS and C3G Diagnosis
This protocol is part of a larger project, COMPRare (COMPlement-mediated Rare kidney diseases), which has been financed on behalf of the EJP RD (European Joint Programme on Rare Diseases) program of EU and is leaded by a…
- Conditions
- Hemolytic-Uremic Syndrome, Membranoproliferative Glomerulonephritis, Healthy
- Trial name
- COMPRare (NCT05985122)
- Testing
- C3NEF assay
- Where
- Italy
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Intellectual Disability, Rubinstein-Taybi Syndrome
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients.
- Conditions
- Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis, Congenital Heart Defect
- Trial name
- RID (NCT05696912)
- Testing
- Ex-vivo approach concerning 25 patients, In-vitro approach concerning 25 patients
- Where
- France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Bordeaux
Brain Tumors
SIMPLIFication of Care Pathways for Patients With Rare Brain Tumors Through Artificial Intelligence
This study focuses on rare brain tumors, which are heterogeneous entities with different morphological, biological, and clinical characteristics.
- Trial name
- SIMPLIF-AI (NCT06878469)
- Testing
- RehaCom
- Where
- 2 sites in Italy
- Volunteers
- 200 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Rare Diseases, Marfan Syndrome
Psychological Support in Adult Patients With Marfan Syndrome
The goal of this observational study is to identify key factors leading to psychotherapy or psychological support in adult subjects with Marfan syndrome (MSF).
- Conditions
- Rare Diseases, Marfan Syndrome, Psychology, Social
- Trial name
- MARFANPSY (NCT05712577)
- Testing
- Questionnaire
- Where
- Italy
- Volunteers
- 125 people
- Sponsor
- IRCCS Policlinico S. Donato
Aplastic Anemia, Paroxysmal Hemoglobinuria, Nocturnal
Study of High Dose Cyclophosphamide in Patients With Severe Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria
OBJECTIVES: I. Confirm the efficacy demonstrated in a pilot study using high dose cyclophosphamide in patients with severe aplastic anemia. II.
- Trial name
- NCT00004464
- Testing
- cyclophosphamide, filgrastim
- Where
- United States
- Volunteers
- 69 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Hyperandrogenism
Phase II Randomized Study of Leuprolide Vs Oral Contraceptive Therapy Vs Leuprolide and Oral Contraceptive Therapy for Ovarian Hyperandrogenism
OBJECTIVES: I. Evaluate the beneficial effects of leuprolide depot, oral contraceptive therapy, and leuprolide/oral contraceptive therapy in the management of patients with ovarian hyperandrogenism.
- Trial name
- NCT00004763
- Testing
- leuprolide, Ethinyl estradiol/norethindrone
- Volunteers
- 45 people
- Sponsor
- National Center for Research Resources (NCRR)
Rare Disorders
Channelling Algorithm Proficiency To Understand, Recognise and Elucidate Disease
Rare diseases affect over 3.5 million people in the UK. It can take years of multiple referrals, inconclusive tests or incorrect diagnoses, for patients to get a final diagnosis.
- Trial name
- CAPTURED (NCT07130071)
- Volunteers
- 500 people
- Sponsor
- Research in Real-Life Ltd
Breast Cancer, Non-small Cell Lung Cancer
Integrated Molecular Profiling in Advanced Cancers Trial
Substantial progress has been made in the treatment of cancer through the use of targeted therapies, but what works for one patient might not work for another patient.
- Conditions
- Breast Cancer, Non-small Cell Lung Cancer, Colorectal Cancer, Genitourinary Cancer
- Trial name
- IMPACT (NCT01505400)
- Where
- Canada
- Volunteers
- 3,026 people
- Sponsor
- University Health Network, Toronto
Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis
Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease
OBJECTIVES: I. Evaluate the effects of androgen suppression with leuprolide and androgen replacement with testosterone enanthate on muscle strength in men with Kennedy's disease or other motor neuron disease.
- Conditions
- Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis, Spinobulbar Muscular Atrophy
- Trial name
- NCT00004771
- Testing
- leuprolide, testosterone
- Volunteers
- 40 people
- Sponsor
- National Center for Research Resources (NCRR)
Genetic and Inflammatory Polyneuropathies
Clinical, Electrophysiological and Genetic Characteristics of Hereditary and Inflammatory Polyneuropathies in France
To describe the clinical, electrophysiological, and genetic characteristics of patients with genetic and inflammatory polyneuropathies in France.
- Trial name
- POLYFRA (NCT07851844)
- Where
- 26 sites in France
- Volunteers
- 1,000 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Rare Disorder, Disorder, Neurologic
Stakeholders of Rare Diseases Informing Values In Neuroethics
The purpose of this research study is to learn more about the perspectives of key stakeholders-patients, families, healthcare providers, and researchers-on the ethical challenges of small-scale, personalized treatment trials for…
- Trial name
- NCT07314736
- Where
- United States
- Volunteers
- 385 people
- Sponsor
- St. Jude Children's Research Hospital
Pervasive Child Development Disorders, Autism
Longitudinal and Biological Study of Childhood Disintegrative Disorder
OBJECTIVES: I. Compare the developmental course (language acquisition, diagnostic stability, predictors of outcome, and restricted interests and behaviors) of childhood disintegrative disorder versus autism and non-autistic…
- Trial name
- NCT00004458
- Where
- 2 sites in United States
- Volunteers
- 220 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Spinal Cord Injury
Riluzole in the Treatment of Spasticity in the Traumatic Chronic Spinal Cord Injury Condition
The study will be conducted in two steps: 1. Determination of the Minimal Effective Dose (MED) among the four doses of the panel 2. Estimation of the probability of response associated to the MED.
- Trial name
- RILUSCI (NCT02859792)
- Testing
- Riluzole, Blood Samples
- Where
- France
- Volunteers
- 90 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Hyperparathyroidism
A Randomized Study of Surgery vs No Surgery in Patients With Mild Asymptomatic Primary Hyperparathyroidism
OBJECTIVES: I. Assess the efficacy of surgery vs no surgery in patients with mild asymptomatic primary hyperparathyroidism. II. Assess the quality of life, morbidity, and mortality of these patients.
- Trial name
- NCT00004843
- Testing
- parathyroidectomy, Observation
- Volunteers
- 53 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Lung Cancer, Adjuvant
A Study to Assess Zipalertinib Versus Placebo in Participants With Early Stage NSCLC With Uncommon EGFR Mutations, Following Complete Tumor Resection
The purpose of this study is to compare the efficacy of zipalertinib versus placebo in participants with early stage resected non-small cell lung cancer (NSCLC) harboring uncommon epidermal growth factor receptor mutation…
- Conditions
- Lung Cancer, Adjuvant, Post-surgical, EGFR
- Trial name
- REZILIENT4 (NCT07128199)
- Testing
- TAS6417
- Where
- 253 sites in United States, Argentina and 22 more
- Volunteers
- 360 people
- Sponsor
- Taiho Oncology, Inc.
Rare Diseases, Pediatric Disorder
Marfan Syndrome and Quality of Life of Pediatric Patients
The goal of this observational study is to learn about the impact of Marfan syndrome (MFS) in paediatric affected subjects. the main questions it aims to answer are: The assessment of quality of life in MFS Italian patients; The…
- Trial name
- MarfanPed (NCT05748314)
- Testing
- Questionnaire
- Where
- Italy
- Volunteers
- 80 people
- Sponsor
- IRCCS Policlinico S. Donato