Clinical trials: Rare Diseases
Wilson Disease
Study of Tetrathiomolybdate in Patients With Wilson Disease
OBJECTIVES: Evaluate the safety and efficacy of ammonium tetrathiomolybdate alone and compared with trientine therapy as initial treatment in patients with Wilson disease presenting neurologically.
- Trial name
- NCT00004339
- Testing
- tetrathiomolybdate, trientine
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- National Center for Research Resources (NCRR)
Common Variable Immunodeficiency
Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency
OBJECTIVES: I. Determine whether polyethylene-glycol-conjugated interleukin 2 (PEG-IL-2) can reduce the number of infections in patients with common variable immunodeficiency. II.
- Trial name
- NCT00004695
- Testing
- PEG-interleukin-2
- Volunteers
- 48 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Genetic Rare Disease
Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in GRD
To evaluate the outcome of hematopoietic stem cell transplantation using targeted busulfan, fludarabine conditioning regimen in genetic rare disease
- Trial name
- NCT02034630
- Testing
- Busulfan
- Where
- South Korea
- Volunteers
- 5 people
- Sponsor
- Seoul National University Hospital
Systemic Lupus Erythematosus
Phase II Study of Long-Term Dehydroepiandrosterone for Systemic Lupus Erythematosus
OBJECTIVES: I. Evaluate the long-term safety and tolerance of a synthetic formulation of dehydroepiandrosterone, GL701, in patients with systemic lupus erythematosus who have completed a prior GL701 protocol.
- Trial name
- NCT00004665
- Testing
- dehydroepiandrosterone
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
X-linked Hypophosphatemia, Hypophosphatemic Rickets
Calcitriol Monotherapy for X-Linked Hypophosphatemia
Children and adults with XLH recruited will be treated with calcitriol alone (without phosphate supplementation) for one year, during which the calcitriol dose will be escalated during the first 3 months of therapy.
- Conditions
- X-linked Hypophosphatemia, Hypophosphatemic Rickets, Hypophosphatemic Rickets, X-Linked Dominant
- Trial name
- NCT03748966
- Testing
- Calcitriol
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Massachusetts General Hospital
Cardiovascular Diseases, Endocrinology
BEhavioral and Adherence Model for Improving Quality, Health Outcomes and Cost-Effectiveness of healthcaRe
Lack of adherence to treatment is a widespread issue worldwide, which leads to higher healthcare utilisation rates and even premature death.
- Conditions
- Cardiovascular Diseases, Endocrinology, Inmunology, Neurology
- Trial name
- BEAMER (NCT06856902)
- Testing
- B-COMPASS implementation
- Where
- 10 sites in Germany, Italy and 6 more
- Volunteers
- 6,190 people
- Sponsor
- Technical University of Madrid
Spinal Muscular Atrophy
A Real-World Medical Chart Review of Spinal Muscular Atrophy Patients Treated With Onasemnogene Abeparvovec in Saudi Arabia
The aim of this retrospective medical chart review is to describe the clinical outcomes, clinical characteristics, and demographics of patients with spinal muscular atrophy (SMA) type 1 treated with onasemnogene abeparvovec (OA)…
- Trial name
- SMA-REAL (NCT07737756)
- Volunteers
- 6 people
- Sponsor
- Novartis Pharmaceuticals
Rare Diseases
Personalized Therapy of Patients Suffering From Rare Genodermatoses
Rare skin diseases are generally defined as serious life-threatening, progressive chronic diseases of the skin that occur extremely rarely (i.e., 5 in 10,000 people are affected). More than 80% are hereditary.
- Trial name
- NCT05680974
- Testing
- If a targetable cytokine is increased in the lesional skin of a patient, this patient is treated with the respective antibody therapy (off-label use of approved drug).
- Where
- Austria
- Volunteers
- 25 people
- Sponsor
- Johannes Kepler University of Linz
Urologic Diseases, Adrenal Tumor
Rare Cystic Benign Adrenal Incidentalomas
Benign complex cystic and vascular adrenal tumors comprise a group of lesions characterized by significant rarity. But, their detection is increasing due to improved radiologic imaging techniques.
- Trial name
- NCT03739918
- Where
- Egypt
- Volunteers
- 291 people
- Sponsor
- Mansoura University
Hyperoxaluria, Cystinuria
Prospective Research Rare Kidney Stones (ProRKS)
The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase…
- Conditions
- Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome
- Trial name
- ProRKS (NCT02780297)
- Where
- 11 sites in United States, Canada and 2 more
- Volunteers
- 220 people
- Sponsor
- Mayo Clinic
Primary Hyperoxaluria, Dent Disease
Rare Kidney Stone Consortium Patient Registry
The purpose of this study is to collect medical information from a large number of patients in many areas of the world with primary hyperoxaluria (PH), Dent disease, Cystinuria and APRT deficiency.
- Conditions
- Primary Hyperoxaluria, Dent Disease, Cystinuria, APRT Deficiency
- Trial name
- RKSC (NCT00588562)
- Where
- 4 sites in United States, Iceland
- Volunteers
- 730 people
- Sponsor
- Mayo Clinic
Left Ventricular Apical Hypoplasia (LVAH), New Rare Condition
GENETIC BASIS of LEFT VENTRICULAR APICAL HYPOPLASIA
Brief summary Left ventricular apical hypoplasia (LVAH) is a rare cardiomyopathy characterized by a spherical, truncated LV with some degree of systolic dysfunction, an elongated, normally functioning right ventricle that wraps…
- Trial name
- NCT04339582
- Where
- Italy
- Volunteers
- 7 people
- Sponsor
- Monaldi Hospital
Central Nervous System Neoplasms, Glioblastoma
Phase I Study of Oral ONC206 in Recurrent and Rare Primary Central Nervous System Neoplasms
The primary objective of this Phase 1, open-label, dose-escalation, and exploratory study is to evaluate the safety and tolerability profile (establish the maximum-tolerated dose) and evaluate the occurrence of dose-limiting…
- Conditions
- Central Nervous System Neoplasms, Glioblastoma, Gliosarcoma, Adult, Anaplastic Oligodendroglioma
- Trial name
- NCT04541082
- Testing
- ONC206
- Where
- United States
- Volunteers
- 102 people
- Sponsor
- Jazz Pharmaceuticals
Fetal Malformation, Pregnancy Related
Realization of Sequencing of All Known Human Genes in Case of Detection of Cerebral, Renal or Ophthalmological Fetal Malformations During Pregnancy in Order to Make an Etiological Diagnosis and to Precise the Fetal Prognosis
Congenital malformations concern 3% of pregnancies; most of them can be seen during pregnancy. For some malformations, an invasive sample (trophoblast biopsy or amniocentesis) is proposed to search a chromosomal abnormality by…
- Conditions
- Fetal Malformation, Pregnancy Related, Rare Genetic Disease
- Trial name
- PRENATEX (NCT04406480)
- Testing
- CGH-array and exome sequencing
- Where
- 12 sites in France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Strasbourg, France
Vascular Diseases
Superior Mesenteric Artery Dissection
This study investigate CT images of patients with spontaneous isolated superior mesenteric artery dissection (SISMAD). The investigators also further analyze the CT morphological differences between different options, aiming to…
- Trial name
- NCT03669380
- Where
- China
- Volunteers
- 57 people
- Sponsor
- Tongji Hospital
Parkinson Disease
Study of Clozapine for the Treatment of Psychosis in Patients With Idiopathic Parkinson's Disease
OBJECTIVES: I. Determine the efficacy and tolerability of clozapine in ameliorating psychosis in patients with idiopathic Parkinson's disease (PD). II.
- Trial name
- NCT00004826
- Testing
- clozapine
- Volunteers
- 60 people
- Sponsor
- Memorial Hospital of Rhode Island
Toxoplasmosis
Pyrimethamine, Sulfadiazine, and Leucovorin in Treating Patients With Congenital Toxoplasmosis
RATIONALE: Congenital toxoplasmosis is an infection caused by the parasitic organism Toxoplasma gondii, and it may be passed from an infected mother to her unborn child.
- Trial name
- NCT00004317
- Testing
- Leucovorin calcium, Pyrimethamine, Spiramycin
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Paraganglioma/ Phaeochromocytoma, Melanoma and Other Malignant Neoplasms of Skin
An International Study on Pediatric Patients With Rare Tumors.
The PARTNER study is an international, prospective, observational study of paediatric patients with very rare tumours.
- Conditions
- Paraganglioma/ Phaeochromocytoma, Melanoma and Other Malignant Neoplasms of Skin, Gastrointestinal Stromal Tumor (GIST), Adrenocortical Tumor
- Trial name
- PARTNER (NCT07072143)
- Where
- Italy
- Volunteers
- 6,250 people
- Sponsor
- Azienda Ospedaliera di Padova
Head and Neck Cancer, Nasopharynx Cancer
The Head and Neck Registry of the European Reference Network on Rare Adult Solid Cancers
Cancer care for head and neck cancers is multidisciplinary and complex and knowledge on the rare ones is limited. There is a wide consensus that to support clinical research on rare cancers, clinical registries should be…
- Conditions
- Head and Neck Cancer, Nasopharynx Cancer, Nasal Cavity and Paranasal Sinus Cancer, Salivary Gland Cancer
- Trial name
- EURACAN (NCT05483374)
- Testing
- observation
- Where
- 10 sites in Czechia, Germany and 1 more
- Volunteers
- 13,600 people
- Sponsor
- Fondazione IRCCS Istituto Nazionale dei Tumori, Milano
Calcinosis
Phase II Study of Calcitonin for Tumoral Calcinosis
OBJECTIVES: I. Determine whether intermittent, long-term, subcutaneous administration of calcitonin increases phosphaturia, reduces hyperphosphatemia, and increases intact parathyroid hormone levels in patients with tumoral…
- Trial name
- NCT00004358
- Testing
- calcitonin
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- National Center for Research Resources (NCRR)