Clinical trials: Rare Diseases
Barth Syndrome
Clinical Trial in Patients With Barth Syndrome- 4TAZPower
Phase 3b/4, randomized, double-blind, parallel-group, placebo-controlled clinical trial to evaluate the efficacy, safety, and pharmacokinetics of a once daily SC injection of elamipretide in subjects with genetically confirmed…
- Trial name
- 4TAZPower (NCT07531251)
- Testing
- Elamipretide
- Where
- 3 sites in United States, Canada and 1 more
- Volunteers
- 48 people
- Sponsor
- Stealth BioTherapeutics Inc.
Huntington Disease
A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease
The main goal of this study is to evaluate the safety, tolerability, and preliminary efficacy of SPK-10001 in participants with Huntington's Disease.
- Trial name
- NCT06826612
- Testing
- SPK-10001
- Where
- 5 sites in United States
- Volunteers
- 53 people
- Sponsor
- Hoffmann-La Roche
Rare Genetic Disease
Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and/or neonatal hypotonia.
- Trial name
- ARNseqFibroSan (NCT07075107)
- Testing
- Blood collection, skin biopsy
- Where
- France
- Volunteers
- 62 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Malignancy, Malignant Neoplasm
DETERMINE Trial Treatment Arm 02: Atezolizumab in Adult, Paediatric and Teenage/Young Adult Patients With Cancers With High Tumour Mutational Burden (TMB) or Microsatellite Instability-high (MSI-high) or Proven Constitutional Mismatch Repair Deficiency (CMMRD) Disposition
This clinical trial is looking at a drug called atezolizumab. Atezolizumab is approved as standard of care treatment for adult patients with urothelial cancer, non-small cell lung cancer, extensive-stage small cell lung cancer…
- Conditions
- Malignancy, Malignant Neoplasm, Lymphoproliferative Disorders, Neoplasms by Histologic Type
- Trial name
- DETERMINE (NCT05770102)
- Testing
- Atezolizumab
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK
Rare Diseases, Genetic Disease
UW Undiagnosed Genetic Diseases Program
The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through…
- Conditions
- Rare Diseases, Genetic Disease, Undiagnosed Disease
- Trial name
- NCT04586075
- Testing
- Trio Whole Genome Sequencing and Participant-Specific Research
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- University of Wisconsin, Madison
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.
Langerhans Cell Histiocytosis, Erdheim-Chester Disease
The Efficacy and Safety of HLX208 in Adult Langerhans Cell Histiocytosis (LCH) and Erdheim-Chester Disease (ECD) With BRAF V600E Mutation
The purpose of this study was to assess safety, efficacy and PK in adult Langerhans Cell Histiocytosis (LCH) and Erdheim-Chester Disease (ECD) given HLX208 (BRAF V600E inhibitor).
- Conditions
- Langerhans Cell Histiocytosis, Erdheim-Chester Disease, LCH, ECD
- Trial name
- NCT05092815
- Testing
- HLX208
- Where
- China
- Volunteers
- 25 people
- Sponsor
- Shanghai Henlius Biotech
Friedreich Ataxia, Rare Diseases
Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia
Multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia.
- Trial name
- EARLY-FA (NCT06560346)
- Testing
- Geneticlly confirmed disease causing FXN mutatuion, Healthy Control
- Where
- 7 sites in United States, Australia and 3 more
- Volunteers
- healthy volunteers welcome
- Sponsor
- Friedreich's Ataxia Research Alliance
Porphyria
Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria
OBJECTIVES: I. Evaluate the efficacy and safety of heme arginate in the treatment of 20 patients with acute attacks of porphyria. II.
- Trial name
- NCT00004789
- Testing
- heme arginate, tin mesoporphyrin
- Volunteers
- 59 people
- Sponsor
- National Center for Research Resources (NCRR)
Niemann-Pick Disease Type C, GM2 Gangliosidosis
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
This is an open-label extension trial to evaluate the long-term safety and tolerability of nizubaglustat (AZ-3102) in participants with rare lysosomal disorders who have participated in a previous nizubaglustat trial and wish to…
- Conditions
- Niemann-Pick Disease Type C, GM2 Gangliosidosis, GM1 Gangliosidosis, Gaucher Disease Type 3
- Trial name
- HARBOR (NCT07885917)
- Testing
- AZ-3102
- Volunteers
- 218 people
- Sponsor
- Azafaros B.V.
Rare Diseases, Amyloidosis
Institutional Registry of Rare Diseases
The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).
- Conditions
- Rare Diseases, Amyloidosis, Sarcoidosis, Phacomatosis
- Trial name
- NCT06573723
- Where
- Argentina
- Volunteers
- 380 people
- Sponsor
- Hospital Italiano de Buenos Aires
Fibrous Dysplasia/McCune-Albright Syndrome
Assessment of Femoral Failure Load and Fracture Risk in Rare Bone Disorders Using MEKANOS Tool. Case Study of Fibrous Dysplasia of Bone/McCune Albright Syndrome
The issue of rare diseases has become a public health priority. In France, a national plan for rare diseases was published in 2004.
- Trial name
- MEKADYS (NCT07507942)
- Testing
- Application of MEKANOS tool to CT scans
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Hospices Civils de Lyon
Still Disease, Still's Disease, Adult-Onset
Acostill ( RaDiCo Cohort) (RaDiCo Acostill)
Adult Onset Still Disease (AOSD) and Systemic onset Juvenile Idiopathic Arthritis (SoJIA) are two rare multifactorial diseases associated with systemic inflammation.
- Conditions
- Still Disease, Still's Disease, Adult-Onset, Still Disease, Juvenile Onset
- Trial name
- Acostill (NCT05927454)
- Where
- France
- Volunteers
- 500 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Porphyria Cutanea Tarda
Study of the Pathogenesis of Porphyria Cutanea Tarda
OBJECTIVES: I. Determine the effect of standard treatments on various predisposing factors in patients with porphyria cutanea tarda (PCT). II.
- Trial name
- NCT00005103
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- National Center for Research Resources (NCRR)
Ataxia Telangiectasia
The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally
Rationale: Forced spirometry maneuvers are not routinely performed in patients with Ataxia Telangiectasia (A-T), even though they suffer from respiratory illnesses.
- Trial name
- NCT00951886
- Where
- Israel
- Volunteers
- 28 people
- Sponsor
- Sheba Medical Center
Epilepsy, Seizure Disorder
Epilepsy Learning Healthcare System (ELHS)
The Epilepsy Learning Health System (ELHS) is a quality improvement and research network to improve outcomes for people with epilepsy.
- Conditions
- Epilepsy, Seizure Disorder, Neurologic Disorder, Rare Diseases
- Trial name
- ELHS (NCT06265103)
- Testing
- Clinical care and quality improvement
- Where
- 13 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Epilepsy Foundation of America
Metabolic Disease, Obesity
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
Background: Researchers are interested in studying individuals who have known or suspected metabolic, inflammatory or genetic diseases that may put them at a high risk for heart diseases or diseases of their blood vessels.
- Conditions
- Metabolic Disease, Obesity, Li-Fraumeni Syndrome, Cardiomyopathy
- Trial name
- NCT01143454
- Testing
- NSR IDE-MRI: Research pulse sequences
- Where
- 3 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Epidermolysis Bullosa
Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa
OBJECTIVES: I. Determine the safety of isotretinoin in patients with recessive dystrophic epidermolysis bullosa.
- Trial name
- NCT00014729
- Testing
- isotretinoin
- Volunteers
- 20 people
- Sponsor
- University of North Carolina
Dysmorphology, Orphan Diseases
Characterization and Recognition of Genetic Diseases by Photography
There are around 8,000 rare diseases and new ones are described every month in the scientific literature. They affect a limited number of patients.
- Trial name
- AIDY (NCT06225141)
- Testing
- Clinical Data reuse
- Where
- France
- Volunteers
- 935 people
- Sponsor
- Imagine Institute
Leukemia
Biomarkers in DNA Samples From Patients With High-Risk Acute Lymphoblastic Leukemia
RATIONALE: Studying samples of blood or tumor tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01119586
- Testing
- DNA analysis, genetic linkage analysis, microarray analysis
- Volunteers
- 350 people
- Sponsor
- Children's Oncology Group