An observational study in Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease and Muscular Dystrophy, sponsored by Nemours Children's Clinic. Completed at 3 sites in United States. Open to participants aged 1 Month and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-12-19.
Sponsored by Nemours Children's Clinic · Observational
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Among 121 studies in Muscular Atrophy, Spinal with a site in United States — 21 open to participants now, 39 under way, 7 of them phase 3. Muscular Atrophy, Spinal · United States.
Among the 121 studies in Muscular Atrophy, Spinal with a site in United States, this one is the 14th largest by enrollment of the 43 observational ones that give a count, is one of 8 that started in 2015, is one of 43 observational ones, and was the 37th registered.
282 studies on the registry are indexed under Muscular Atrophy, Spinal; 73 are open to participants now.
Browse Muscular Atrophy, Spinal studies →21 of the 121 studies in Muscular Atrophy, Spinal with a site in United States are open now. Recruiting first, the newest first:
Johns Hopkins University · Sites in United States
Ages 18–80
St. Jude Children's Research Hospital · Sites in United States
Biogen · Sites in United States
Ages 0 days–7 mo
Biogen · Sites in United States, China
Ages 15–60
Novartis Pharmaceuticals · Sites in United States
Ages 2–100
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 58 Muscular Atrophy, Spinal studies recruiting now, 28 (48%) set no upper age limit and 27 (47%) stop at 75 or younger; 46 take children under 18; 11 take healthy volunteers.
This study: 1 Month and older · all sexes · healthy volunteers too.
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121 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 18 · Phase 2 27 · Phase 3 20 · Phase 4 6
First in 1986; this study’s year is marked. 8 started in 2015.
By drug class, each counting the studies that test any of its medicines:
This study's enrollment of 230 is above the median of 139 across 114 observational studies indexed under Muscular Atrophy, Spinal.
Median enrollment 33 across the 76 interventional studies, 75 across the 43 observational. Of the 76 that completed or were terminated, 33 (43%) have results posted.
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61 of 121 have an industry lead sponsor. The 10 most frequent:
Nemours Children's Clinic is the lead sponsor of 130 studies on the registry; 26 are open to participants now.
Of its 9 completed or terminated interventional studies of FDA-regulated products, 6 (67%) have results posted.
Nemours Children's Clinic has 3 studies filed under Muscular Atrophy, Spinal — fewer than ten, so there is no comparison to draw.
7 of the studies in Muscular Atrophy, Spinal with a site in United States that are under way reach primary completion within a year, 1 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT05067790Phase 3BiogenA Study to Learn About the Effect of Higher Doses of Nusinersen (BIIB058) Given as Injections to Participants With Spinal Muscular Atrophy (SMA) Who Were Previously Treated With Risdiplam (ASCEND) | 2027-09-24 |
| NCT03655223RTI InternationalEarly Check: Expanded Screening in Newborns | 2026-11-30 |
| NCT07223320Teachers College, Columbia UniversityHABIT-ILE + FST in Children With SMA | 2026-12-31 |
| NCT07400198Jacqueline MontesGait and Bone Health in SMA | 2027-06-30 |
| NCT06532474St. Jude Children's Research HospitalExploring the Physiologic, Pharmacodynamic, and Clinical Responses of Skeletal Muscle in Patients With Spinal Muscular Atrophy Treated With SMN-Directed Therapies | 2027-09 |
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Among the 121 studies in Muscular Atrophy, Spinal with a site in United States, from their registry updates:
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The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder and their family members. The samples to be collected will be obtained using minimally invasive (whole blood) means. The research team will then extract high quality genomic DNA or RNA from these samples and use it to identify and confirm novel gene mutations and to identify genes which regulate the severity of motor neuron/neuromuscular diseases.
Diseases affecting the motor unit--which is composed of the motor neuron, its myelin sheath and its innervated muscle fibers--are a diverse, heterogeneous group having heterogeneous clinical presentations and genetic causes. Many of these disorders have a inherited component. In some cases, the genetics underlying a given neuromuscular/motor neuron disease, like spinal muscular atrophy (SMA) or Duchenne muscular dystrophy, are well characterized. There are, however, disorders whose genetic basis has yet to be determined or genetically characterized diseases which harbor novel mutations. The purpose of this genetic registry is to catalogue early-onset motor neuron and neuromuscular disorders and to determine their genetic bases. With samples obtained from this registry, the investigators will be able to provide a genetic diagnosis for a specific neuromuscular/motor neuron disease which will lead to better care for those patients affected by these diseases.
Many of these disorders have a wide spectrum of phenotypic variability. For example, the severity of SMA is quite variable even though it is caused by the loss of a single gene, i.e. survival motor neuron 1 (SMN1). The number of copies of the duplicated gene survival motor neuron 2 (SMN2) dictates phenotypic severity in SMA. In this study, the research team will also identify potential modifiers of phenotypic severity for specific disorders like SMA and Charcot-Marie-Tooth (CMT) disease. With the identification of novel modifier genes, the investigators will be able to more accurately predict disease outcomes and the investigators will also have novel targets for the development of therapeutic agents for these diseases.
This study will enroll children diagnosed with a motor neuron or neuromuscular disease as well as their parents and/or siblings as well as adults with childhood-onset motor neuron or neuromuscular diseases.
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Exclusion Criteria:
Each participant will have blood drawn for genetic analysis and for establishment of a lymphoblastoid cell line.
Other: sample collection
collection of blood
genetic diagnosis
The genetic basis for the subject's condition will be verified/determined by Sanger sequencing of DNA sample
Time frame: up to 2 years
SMN1 copy number
The number of copies of the SMN1 gene will be determined using array digital polymerase chain reaction (PCR).
Time frame: up to 2 years
SMN2 copy number
The number of copies of the SMN2 gene will be determined using array digital PCR.
Time frame: up to 2 years
target gene mRNA levels
The relative levels of the disease gene-specific messenger ribonucleic acid (mRNA) will be measured using quantitative PCR.
Time frame: up to 2 years
target gene protein levels
The relative amounts of the disease-gene-specific protein will be measured using immunoblot.
Time frame: up to 2 years
Plan to share: Undecided — De-identified information will be shared once the data are published.
Ran from Jun 2015 to primary completion in Dec 2024, 114 months.
Of 58 observational studies under Muscular Atrophy, Spinal, half reached primary completion within 88 months of starting (the median), counting those still running; a quarter within 36. This study's 114 months is above that.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Dec 2024. You cannot join it, but the record below documents what was studied.
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