Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy (SMA) is a genetic disorder that causes progressive muscle weakness and loss due to the degeneration of motor neurons in the spinal cord. Early diagnosis and treatment can significantly improve quality of life and prolong survival, especially for the severe forms.

  • Cause: Caused by mutations in the SMN1 gene, leading to a deficiency of the survival motor neuron (SMN) protein, which is essential for motor neuron function. It is inherited in an autosomal recessive pattern.

  • Features: Symptoms include muscle weakness, poor muscle tone, difficulty moving, and respiratory problems. Severity depends on the type:

    • Type 1 (Werdnig-Hoffmann): The most severe form, appears before 6 months of age, leading to early respiratory failure.

    • Type 2: Onset between 6-18 months, with progressive weakness, but individuals may live into adulthood.

    • Type 3 (Kugelberg-Welander): Onset in later childhood, milder form with slower progression.

    • Type 4: Adult-onset, with mild symptoms.

  • Diagnosis: Confirmed by genetic testing for SMN1 gene mutations.

  • Treatment: Includes gene therapy (e.g., Zolgensma), antisense oligonucleotide therapy (e.g., Spinraza), and supportive care (e.g., physical therapy, respiratory support).

Active Trials

  • TITLE: A Phase 2 Double-Blinded, Randomized, Placebo-Controlled Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics, and Immunogenicity of Intravenous Administration of ARGX-119 in Pediatric Participants Aged 5 to Less Than 18 Years With Spinal Muscular Atrophy

    SPONSOR: Argenx BV

    INDICATION: Spinal Muscular Atrophy

    PROTOCOL: ARGX-119-24-SMA-2001

    PHASE: 2

    DESCRIPTION: A Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics, and Immunogenicity of Intravenous Administration of ARGX-119 in Pediatric Participants Aged 5 to Less Than 18 Years With Spinal Muscular Atrophy (Sparkle)

    STATUS: ACTIVE

    RECRUITING PATIENTS: YES

    RDR LOCATION: North Carolina, Florida

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  • TITLE: A Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Ambulatory and Non- Ambulatory Participants with Spinal Muscular Atrophy with Open-Label Extension.

    SPONSOR: Biohaven Pharmaceuticals, Inc.

    INDICATION: Spinal Muscular Atrophy

    PROTOCOL: BHV2000-301

    PHASE: 3

    DESCRIPTION: BHV2000-301 is a Phase 3, multicenter, randomized, double-blind, placebo-controlled, 2 arm study designed to assess the efficacy and safety of taldefgrobep alfa in study participants with SMA who are stable on standard of care therapy including risdiplam, and/or nusinersen, and/or who have a history of treatment with onasemnogene abeparvovec-xioi.

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

  • TITLE: Long-Term Follow-Up Study of Risdiplam in Participants With Spinal Muscular Atrophy (SMA)

    SPONSOR: Genentech, Inc.

    INDICATION: Spinal Muscular Atrophy

    PROTOCOL: ML43702

    PHASE: 4

    DESCRIPTION: A multi-center, longitudinal, prospective, non-comparative study to investigate the long-term safety and effectiveness of risdiplam, prescribed based on clinician judgment as per the Evrysdi® U.S. Package Insert (USPI) in adult and pediatric participants with spinal muscular atrophy (SMA). In this study, participants will be followed for up to 5 years from enrollment or until withdrawal of consent, loss to follow-up, or death.

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

  • TITLE: A Phase 2, randomised, double-blind, placebo-controlled, 2-way crossover study to evaluate the efficacy, safety, and tolerability of NMD670 in ambulatory adults with Type 3 spinal muscular atrophy.

    SPONSOR: NMD Pharma

    INDICATION: Type 3 Spinal Muscular Atrophy

    PROTOCOL: NMD670-02-0001

    PHASE: 2

    DESCRIPTION: The purpose of this study is to measure clinical efficacy on muscle strength and function, safety, and tolerability of NMD670 compared with placebo in ambulatory participants with Type 3 SMA.

    STATUS: Active

    RECRUITING PATIENTS: Yes

    RDR LOCATION: North Carolina

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Past Trials

  • TITLE: A Study to Evaluate Higher Dose (HD) Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Previously Treated With Risdiplam (ASCEND)

    SPONSOR: Biogen

    INDICATION: Spinal Muscular Atrophy

    PROTOCOL: ASCEND 232SM303

    PHASE: 3b

    DESCRIPTION: The primary objective of this study is to evaluate motor function following treatment with HD nusinersen in participants with spinal muscular atrophy (SMA) previously treated with risdiplam.

    The secondary objective of this study is to evaluate the safety and tolerability of HD nusinersen in participants with SMA previously treated with risdiplam.

    STATUS: Inactive

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia