Clinical trials: SMA - Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA), Neuromuscular Disease
Ultrasonographic Muscle Assessment and Functional Scales in Spinal Muscular Atrophy
This study aims to investigate the relationship between ultrasonographic muscle thickness measurement and echogenicity assessment with functional scales in children with spinal muscular atrophy (SMA).
- Trial name
- NCT06599606
- Testing
- Ultrasonographic Assessment
- Where
- Turkey (Türkiye)
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
Spinal Muscular Atrophy, Merosin Deficient Congenital Muscular Dystrophy
Fat and Glucose Metabolism in Fed and Fasted State in Patients With Low Skeletal Muscle Mass
In a study from 2003 the investigators showed that adult patients with very low skeletal muscle mass (spinal muscular atrophy (SMA) type II, Duchenne muscular dystrophy, congenital muscular dystrophy) are prone to develop…
- Trial name
- NCT03970135
- Testing
- Fasting
- Where
- Denmark
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Spinal Muscular Atrophy
Identification of a Biomarker Associated With Cis-duplication of the SMN1 Gene
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder characterized by loss of motor neurons in the anterior horn of the spinal cord and leading to muscle atrophy.
- Trial name
- BADGES (NCT02550691)
- Testing
- blood sampling
- Where
- 2 sites in France
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- University Hospital, Rouen
Androgen Receptor Abnormal, Endometrial Disorder
The Effect of Androgen Receptor Polymorphism on Endometrial Cancer
Endometrial tissue is a hormonal-dependent tissue in both pre- and postmenopausal period. The endometrial cells are expressing receptors for all sex hormones, mainly for estrogen, progesterone and androgens.
- Trial name
- AREC (NCT05157373)
- Testing
- Endometrial sampling and Peripheral blood collection, FSFI Scale
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Nicosia
Spinal Muscular Atrophy
Neonatal Spinal Muscular Atrophy (SMA) Screening
Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA.
- Trial name
- SMA (NCT03217578)
- Testing
- SMA Newborn Screening
- Where
- Taiwan
- Volunteers
- 250,000 people, healthy volunteers welcome
- Sponsor
- Kaohsiung Medical University Chung-Ho Memorial Hospital
Spinal Muscular Atrophy
Quantitative Analysis of SMN1 and SMN2 Gene Based on DHPLC System
In this project, we will establish the efficient and accurate gene dose determination system by combining the heterodulex analysis and gene dose analysis on DHPLC platform based on various quantitative and multiplex PCR…
- Trial name
- NCT00155168
- Where
- Taiwan
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Spinal Muscular Atrophy
Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women
Spinal muscular atrophy (SMA) prenatal carrier screening is recommended by American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG).
- Trial name
- NCT04859179
- Where
- Thailand
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Mahidol University
Androgenetic Alopecia
Association of Polymorphisms in the Androgen Receptor Gene and Finasteride Response in Women With Androgenetic Alopecia
Previous studies of finasteride treatment in women with hair loss have failed to show positive results, yet, some women have responded anecdotally.
- Trial name
- NCT01052870
- Testing
- Finasteride
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- HairDx, LLC
Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis
Digital Assessment of Speech and Fine Motor Control in ALS
This is a single-session, case-control study that incorporates digital tools for assessing speech and motor function in motor neuron disease.
- Conditions
- Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis, Progressive Muscular Atrophy
- Trial name
- NCT06315673
- Testing
- Digital Speech and Handwriting Assessment
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Milton S. Hershey Medical Center
Amyotrophic Lateral Sclerosis, Frontotemporal Dementia
TRIAL READY (Clinical Trial Readiness)
This study, being conducted under the auspice of the CReATe Consortium, will enroll patients with ALS and related disorders as well as healthy controls, with the goal of facilitating clinical validation of leading…
- Conditions
- Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, ALS-Frontotemporal Dementia, Primary Lateral Sclerosis
- Trial name
- NCT03912987
- Where
- 3 sites in United States
- Volunteers
- 610 people, healthy volunteers welcome
- Sponsor
- University of Miami
Spinal Muscular Atrophy
Newborn Screening for Spinal Muscular Atrophy (SMA) - a Proof of Principle Study Using Anonymised Blood Spots.
Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases.
- Trial name
- NCT05237544
- Where
- United Kingdom
- Volunteers
- 5,065 people, healthy volunteers welcome
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Libido, Receptors, Androgen
Genetic Polymorphism of the Androgen Receptor-Gene and Sexual Function in Middle Aged Women
It is known that with increasing age sexual desire is declining in women. Decreasing levels of androgens are believed to have an influence, but cannot explain the loss of libido completely.
- Conditions
- Libido, Receptors, Androgen, Polymorphism, Genetic, Androgen Effect
- Trial name
- CAG-Libido (NCT01977313)
- Where
- Switzerland
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Amyotrophic Lateral Sclerosis, Progressive Muscular Atrophy
Study of ALS Reversals 2: Genetic Analyses
The purpose of this study is to try to understand why reversals of amyotrophic lateral sclerosis (ALS) and primary muscular atrophy (PMA) take place.
- Trial name
- StAR2 (NCT03464903)
- Where
- United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Duke University
Muscle Tone Poor, Spinal Muscular Atrophy
Myotonometer Intra- and Inter Examiner Reliability on Spinal Muscular Atrophy
The primary aim of the study was to measure the intra-rater and inter-rater reliability of MyotonPRO in measuring postural muscle tone and mechanical properties in individuals with spinal muscular atrophy (SMA).
- Trial name
- NCT05521217
- Testing
- MyotonPRO
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Istanbul Medipol University Hospital
Motor Neuron Disease, Amyotrophic Lateral Sclerosis, Motor Neuron Disease Progressive Spinal Muscle Atrophy
Non-invasive Spinal, Cortical, and Sensorimotor Biomarkers in Motor Neurone Disease
Substantial variability exists in the onset, and rate of degeneration across individuals with Motor Neurone Disease (MND) or Amyotrophic Lateral Sclerosis (ALS).
- Conditions
- Motor Neuron Disease, Amyotrophic Lateral Sclerosis, Motor Neuron Disease Progressive Spinal Muscle Atrophy, Primary Lateral Sclerosis, Multiple Sclerosis
- Trial name
- NCT06320444
- Testing
- 232 Electrode Electrophysiology (EEG-ECG-EMG-EXG)
- Where
- Ireland
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University of Dublin, Trinity College
Neurodegenerative Disorders
Development of IPS from Donated Somatic Cells of Patients with Neurological Diseases
Human fibroblasts and possibly other human somatic cells may be reprogrammed into induced pluripotent stem (iPS) cells by the forced expression of transcription factors (1-5).
- Trial name
- NCT00874783
- Where
- Israel
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Spinal Muscular Atrophy (SMA)
Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development
Spinal muscular atrophy (SMA) is the leading genetic cause of death of infants. Strong preclinical evidence suggests that effective therapy must be delivered as early as possible to prevent progression of the disease.
- Trial name
- NCT01736553
- Where
- 15 sites in United States
- Volunteers
- 53 people, healthy volunteers welcome
- Sponsor
- Ohio State University
Spinal Muscular Atrophy
A Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Risdiplam (RO7034067) Given by Mouth in Healthy Volunteers
The objective of this study is to assess the safety and tolerability of Risdiplam (RO7034067) in healthy people. The study will assess what the body does to Risdiplam (RO7034067) and what Risdiplam (RO7034067) does to the body.
- Trial name
- NCT02633709
- Testing
- Itraconazole, Risdiplam
- Where
- Netherlands
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- Hoffmann-La Roche
SMA II, Cerebral Palsy
Paracetamol Study in Patients With Low Muscle Mass
To investigate the safety and toxicity related to paracetamol treatment in children and adults with respectively SMA and CP.
- Trial name
- NCT03648658
- Testing
- Paracetamol 120Mg/5mL Oral Suspension
- Where
- Denmark
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Mette Cathrine Oerngreen
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International