Clinical trials: Natural History
POMC Deficiency Obesity, PCSK1 Deficiency Obesity
An Observational,Prospective Natural History Study of Early-Onset Extreme Obesity Due to Bi-Allelic Loss-of-Function Mutations in the POMC, PCSK1 or LEPR Genes
This is an observational study. There are no protocol-defined visits, although patients are expected to have routine office visits approximately every 6 months.
- Conditions
- POMC Deficiency Obesity, PCSK1 Deficiency Obesity, LEPR Deficiency Obesity
- Trial name
- NHS (NCT03621007)
- Where
- 3 sites in Turkey (Türkiye)
- Volunteers
- 8 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Stroke
A Clinical Trial to Assess the Acute Safety and Functional Outcome and Recovery After STROKE: The FIRST Trial
Current literature has only limited information on the natural history of acute ischemic stroke from large vessel occlusion in a stroke cohort who presents within 8 hours from symptom onset, particularly on 90 day functional…
- Trial name
- FIRST (NCT01092819)
- Testing
- Current standard of care for acute ischemic stroke other than IV rtPA or other IA therapies
- Where
- 3 sites in United States, China
- Volunteers
- 150 people
- Sponsor
- Penumbra Inc.
Rod Cone Dystrophy
Natural History Study of Advanced RCD
ECSTASI is a Natural History Study, which will be monitoring how standard of care (SoC) affect advanced rod-cone dystrophy (RCD), a type of eye disease also known as retinitis pigmentosa.
- Trial name
- ECSTASI (NCT07854899)
- Testing
- Eye examinations, Questionnaire
- Where
- 3 sites in Belgium, France and 1 more
- Volunteers
- 100 people
- Sponsor
- SparingVision
Netherton Syndrome
Natural History of Netherton Syndrome
The goal of this non-interventional study (NIS) is to collect real-world data to describe the natural history of Netherton Syndrome (NS).
- Trial name
- NCT05902663
- Where
- 4 sites in United States, Italy
- Volunteers
- 4 people
- Sponsor
- Boehringer Ingelheim
Leigh Syndrome
A Study of the Natural Course of SURF1 Deficiency
The purpose of the study is to prospectively and systematically collect standardized clinical information, to describe important features of the disease course of SURF1 deficiency.
- Trial name
- NCT05277363
- Testing
- None (Observational study)
- Where
- United States
- Sponsor
- Taysha Gene Therapies, Inc.
Epithelioid Sarcoma
Epithelioid Sarcoma Natural History Study
This study is a multi-center, non-interventional retrospective medical records review. The study will involve identification of medical records of patients with confirmed locally advanced unresectable or metastatic ES, who…
- Trial name
- NCT03837678
- Where
- 5 sites in United States
- Volunteers
- 74 people
- Sponsor
- Epizyme, Inc.
Amyotrophic Lateral Sclerosis (ALS), Amyotrophic Lateral Sclerosis &Amp; Other Neuromuscular Disorders
Amyotrophic Lateral Sclerosis: A Multicenter Retrospective Observational Registry
This retrospective observational study will analyze de-identified clinical data from patients with amyotrophic lateral sclerosis (ALS) collected at multiple centers over 7 years.
- Trial name
- NCT07143656
- Testing
- Imaging and Clinical Reports
- Where
- Poland
- Volunteers
- 36 people
- Sponsor
- Biocells Medical
Sensorineural Hearing Loss, Bilateral
Otoferlin Gene-mediated Hearing Loss Natural History Study
This is a retrospective and prospective longitudinal study in participants with Otoferlin Gene-Mediated Hearing Loss.
- Trial name
- NCT05572073
- Testing
- Natural History Study
- Where
- 10 sites in United States, Australia and 5 more
- Volunteers
- 150 people
- Sponsor
- Akouos, Inc.
Dystrophic Epidermolysis Bullosa, DEB - Dystrophic Epidermolysis Bullosa
The Natural History of Wounds in Patients With Dystrophic Epidermolysis Bullosa (DEB)
This study is a non-interventional, observational study that will evaluate the natural history of wounds in patients with Dystrophic Epidermolysis Bullosa (DEB) for inclusion into the Krystal Biotech Phase III protocol of B-VEC…
- Trial name
- NCT04214002
- Where
- United States
- Sponsor
- Krystal Biotech, Inc.
Infantile Globoid Cell Leukodystrophy
The Natural History of Infantile Globoid Cell Leukodystrophy
The purpose of this natural history study is to understand more about the progression of infantile Krabbe disease, a very rare genetic disease. There is very little published longitudinal data with only anecdotal cases.
- Trial name
- NCT00983879
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Zymenex A/S
Dry Eye
A Natural History Study of Patients With Dry Eye
This is a multi-center, prospective, controlled, observational study of the natural history of patients with dry eye disease.
- Trial name
- NCT00833235
- Testing
- Artificial Tears
- Where
- 17 sites in United States
- Volunteers
- 284 people, healthy volunteers welcome
- Sponsor
- Allergan
Scorpion Sting Envenomation
Establishment of Natural History of Scorpion Envenomation
This retrospective study was conducted to collect data from approximately 100 patients from 6 months to 18 years of age who were stung by a scorpion but were not treated with antivenom.
- Trial name
- NCT00696683
- Testing
- None, this is an observational study
- Where
- United States
- Volunteers
- 97 people
- Sponsor
- Instituto Bioclon S.A. de C.V.
Recurrent Pericarditis
REgiStry Of the NAtural History of recurreNt periCarditis in pEdiatric and Adult Patients
The registry will focus on furthering the understanding of the natural history of recurrent pericarditis (RP), as well as document RP-related clinical, health-related quality of life (HRQoL), and economic burden and will assist…
- Trial name
- RESONANCE (NCT04687358)
- Where
- 29 sites in United States
- Volunteers
- 500 people
- Sponsor
- Kiniksa Pharmaceuticals International, plc
Leber's Hereditary Optic Neuropathy (LHON)
Study to Assess the Efficacy and Safety of Raxone in LHON Patients
LEROS is an open-label interventional Phase IV study, designed to further assess the efficacy and safety of Raxone® in the long-term treatment of LHON patients.
- Trial name
- LEROS (NCT02774005)
- Testing
- Idebenone
- Where
- 29 sites in United States, Austria and 8 more
- Volunteers
- 199 people
- Sponsor
- Santhera Pharmaceuticals
Hypophosphatasia (HPP)
A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
This study aims to characterize the natural history of patients with severe perinatal or infantile onset HPP.
- Trial name
- NCT01419028
- Where
- 12 sites in United States, Australia and 5 more
- Volunteers
- 48 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Hepatitis C, HIV
NATURAL HISTORY-Hepatitis C Virus/ Human Immunodeficiency Virus Coinfection
The purpose of this study was to describe the time course and extent of hemoglobin (Hb) changes and the erythropoietic response to PEG-IFN/RBV (Pegylated Interferon and Ribavirin)-induced anemia In HCV(hepatitis C virus)/HIV…
- Conditions
- Hepatitis C, HIV, Anemia
- Trial name
- NCT00315432
- Testing
- Pegylated Interferon and Ribavirin
- Volunteers
- 91 people
- Sponsor
- Ortho Biotech Products, L.P.
Retinitis Pigmentosa (RP)
Retrospective Natural History Study of Retinitis Pigmentosa
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.
- Trial name
- PHENOROD1 (NCT03975543)
- Where
- France
- Volunteers
- 113 people
- Sponsor
- SparingVision
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
Clinical Characteristics, Natural History, Health Care Measures, and Genetic Screening in Patients With ALS
Patients with sporadic ALS (sALS), which refers to those without a family history of ALS, are typically not subjected to genetic investigations as part of their standard care. Therefore, their mutation status is often unknown.
- Trial name
- ID-ALS (NCT05852405)
- Where
- Germany
- Volunteers
- 2,000 people
- Sponsor
- Ambulanzpartner Soziotechnologie APST GmbH
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study
This is an observational, multicentre, international study over a 2-year follow-up period. The aim of this study is to understand how XLHED affects the lives of young male patients and their families over time.
- Trial name
- EdeReaLife (NCT07096206)
- Where
- 2 sites in France, Germany
- Volunteers
- 27 people
- Sponsor
- Pierre Fabre Medicament
Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD)
Natural History Study of Children With Metachromatic Leukodystrophy
The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).
- Conditions
- Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD), Nervous System Diseases, Brain Diseases
- Trial name
- NCT01963650
- Where
- 14 sites in United States, Argentina and 8 more
- Volunteers
- 1 people
- Sponsor
- Shire