Clinical trials: Natural History
Gamma-sarcoglycanopathy
Natural History Study in Patients With LGMDR5/2c
Prospective, longitudinal, interventional, multicenter natural history study to better understand the LGMDR5/2c disease physiopathology. The duration of participation for each patient will be up to 24 months.
- Trial name
- NCT06210672
- Where
- 3 sites in France, Tunisia
- Sponsor
- Atamyo Therapeutics
Phosphomannomutase 2 Deficiency
Natural History Study Protocol in PMM2-CDG (CDG-Ia)
Clinical and Basic Investigations into Phosphomannomutase deficiency (PMM2-CDG) This is a natural history (observational) protocol designed to collect clinical and biological information in patients with PMM2-CDG (CDG-Ia).
- Trial name
- NCT03173300
- Where
- 11 sites in United States, Belgium and 7 more
- Volunteers
- 139 people
- Sponsor
- Glycomine, Inc.
Cardiovascular Disease (CVD), Heart Failure
Study of the Progression of Chronic Cardiovascular Conditions
This study will collect physiologic data in patients with cardiovascular conditions and observe the natural history of those conditions for research purposes.
- Conditions
- Cardiovascular Disease (CVD), Heart Failure, Aortic Stenosis, Aortic Stenosis Disease
- Trial name
- OCORO (NCT07420907)
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- Prolaio
GM1 Gangliosidosis, GM2 Gangliosidosis
Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2).
- Conditions
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease
- Trial name
- RETRIEVE (NCT04470713)
- Where
- 17 sites in United States, Belgium and 8 more
- Volunteers
- 226 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.
Achondroplasia
Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia.
This is a registry study in children with achondroplasia, age 0-10 years, to be conducted at multiple clinical centers in several countries.
- Trial name
- NCT03794609
- Where
- 57 sites in United States, Australia and 12 more
- Volunteers
- 315 people
- Sponsor
- Pfizer
XLHED
A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED
The proposed natural history study will enroll male patients with a diagnosis of XLHED, female carriers of XLHED and healthy volunteers.
- Trial name
- NCT03912792
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Dermelix Biotherapeutics, LLC.
Amyotrophic Lateral Sclerosis Associated With a SOD1 Gene Mutation
Study to Learn If Tofersen (BIIB067) Can Delay ALS Symptoms and About Its Safety in Adults With a SOD1 Gene Mutation Who Have Not Yet Developed ALS Symptoms
In this study, researchers will learn more about the effects of a drug called tofersen, also known as BIIB067 and QALSODY®, in adults with amyotrophic lateral sclerosis (ALS) who have a superoxide dismutase 1 (SOD1) gene…
- Trial name
- ATLAS (NCT04856982)
- Testing
- Tofersen
- Where
- 32 sites in United States, Australia and 12 more
- Volunteers
- 158 people
- Sponsor
- Biogen
Fetal and Neonatal Alloimmune Thrombocytopenia
Study to Assess the Occurrence of HPA-1a Alloimmunization in Women With Higher Risk for Fetal and Neonatal Alloimmune Thrombocytopenia
A prospective, non-interventional, natural history study to assess the occurrence of higher FNAIT risk across a broad population of different racial and ethnic characteristics and the occurrence of HPA-1a alloimmunization in…
- Trial name
- NCT05345561
- Testing
- Clinical data collection
- Where
- 28 sites in United States, Canada and 5 more
- Volunteers
- 14,390 people, healthy volunteers welcome
- Sponsor
- Rallybio
Dystrophic Epidermolysis Bullosa
Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa
The objective of this study is to characterize the extent and severity of disease in subjects with DEB and the progression of disease over a timeframe relevant to interventional studies.
- Trial name
- NCT01768026
- Where
- United States
- Sponsor
- Lotus Tissue Repair, Inc.
Retinitis Pigmentosa, Eye Diseases, Hereditary
Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
The purpose of this study is to characterize the natural history through temporal systemic evaluation of subjects identified with PRPF31 mutation-associated retinal dystrophy, also called retinitis pigmentosa type 11, or RP11.
- Conditions
- Retinitis Pigmentosa, Eye Diseases, Hereditary, Retinal Dystrophies, Retinal Dystrophy Rod
- Trial name
- NCT05573984
- Where
- 7 sites in United States, Australia
- Volunteers
- 50 people
- Sponsor
- PYC Therapeutics
Duchenne Muscular Dystrophy
A Prospective Natural History Study of Progression of Subjects With Duchenne Muscular Dystrophy.
To characterize the natural history and progression of Duchenne Muscular Dystrophy (DMD) to help inform the design of future studies, to capture biomarkers of safety and disease progression and to provide comparative data for the…
- Trial name
- NCT01753804
- Testing
- Observational study
- Where
- 16 sites in United States, Argentina and 8 more
- Volunteers
- 269 people
- Sponsor
- BioMarin Pharmaceutical
AMN, AMN Gene Mutation
Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
The course of AMN-related disabilities over time is poorly or incompletely understood due to a limited number of patients and lack of treatments.
- Conditions
- AMN, AMN Gene Mutation, X-ALD
- Trial name
- CYGNET (NCT05008874)
- Testing
- Natural History Observation
- Where
- 6 sites in United States, Germany and 1 more
- Volunteers
- 65 people
- Sponsor
- SwanBio Therapeutics, Inc.
Duchenne Muscular Dystrophy (DMD)
A Low Interventional Study to Monitor Activity Using Wearable Sensors in Duchenne Muscular Dystrophy
The purpose of this low interventional study is to collect data on everyday movement in boys with Duchenne muscular dystrophy (DMD) using wearable activity sensors.
- Trial name
- NCT04254172
- Testing
- Activity Monitor
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Pfizer
Dilated Cardiomyopathy
Observational Study of Natural History of BAG3 Gene Mutation-Associated Dilated Cardiomyopathy in Chinese Adults
This is a multicentre, prospective cohort study designed to elucidate the natural history of dilated cardiomyopathy (DCM) associated with specific gene mutations in Chinese patients.
- Trial name
- NCT07646600
- Testing
- Observational, None intervention
- Where
- 3 sites in China
- Volunteers
- 10 people
- Sponsor
- AstraZeneca
Age-Related Macular Degeneration, Geographic Atrophy
The Natural History of Geographic Atrophy Progression (GAP) Study
The objective of the 18-month trial is to evaluate the natural history of geographic atrophy by assessing the rate of progression of the geographic atrophic lesion over time.
- Trial name
- NCT00599846
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Alcon Research
Congenital Myasthenic Syndrome
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7…
- Trial name
- NCT06078553
- Where
- 33 sites in United States, Austria and 10 more
- Volunteers
- 100 people
- Sponsor
- argenx
Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency
A Natural History Study of Aspartylglucosaminuria
Aspartylglucosaminuria (AGU) is a rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance and, ultimately, premature…
- Conditions
- Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency, Lysosomal Storage Diseases
- Trial name
- AGU (NCT03853876)
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Neurogene Inc.
Foreign-Body Reaction, Granulomatous Disease
Prospective Stage-Stratified Histopathologic Study and Proposed Disease-Evolution Model of Gluteal Permanent Synthetic Filler Complications
This prospective biospecimen cohort will collect and analyze tissue from adults undergoing clinically indicated surgery for gluteal permanent synthetic filler disease.
- Conditions
- Foreign-Body Reaction, Granulomatous Disease, Soft Tissue Necrosis Lower Limb, Gluteal Permanent Synthetic Filler Disease
- Trial name
- NCT07808970
- Testing
- Standardized Tissue Sampling During Clinically Indicated Surgery, Blinded Histopathologic Scoring
- Where
- Colombia
- Volunteers
- 200 people
- Sponsor
- Research Inc
Ceroid Lipofuscinosis, Neuronal 5
A Natural History Study of Neuronal Ceroid Lipofuscinosis Type 5 (CLN5)
CLN5 is a form of Batten Disease, a neurodegenerative disorder in children causing psychomotor regression, seizures, blindness, loss of ambulation and premature death, and has no available treatments.
- Trial name
- NCT03822650
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- Neurogene Inc.
Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
A Retrospective, Natural History Study in Children With CLN2
This is a multi center, retrospective, chart review study to document the evolution of ocular disease progression in pediatric patients with CLN2.
- Trial name
- NCT04480476
- Sponsor
- REGENXBIO Inc.